Mutations in ABCA4

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Met    1 Thr details homologous mutations 1 3 3 N D ?
CL0 p.Met    1 Val details homologous mutations 3 6 8 N D
CL0 p.Leu   11 Pro details homologous mutations 7 20 24 D D
CL0 p.Trp   15 * details homologous mutations 1 1 1 - -
CL0 p.Arg   18 Trp details homologous mutations 10 15 16 D D D
CL0 p.Gln   21 * details homologous mutations 1 1 2 - - ?
CL0 p.Arg   24 Cys details homologous mutations 1 5 5 D D
CL0 p.Arg   24 His details homologous mutations 5 11 11 D D
CL0 p.Arg   24 Trp details homologous mutations 1 1 1 D D ?
TMD1,TH1 p.Val   26 Met details homologous mutations 1 3 3 N N ?
TMD1,TH1 p.Trp   31 Arg details homologous mutations 2 3 3 D D ?
TMD1,TH1 p.Trp   41 * details homologous mutations 1 2 2 - -
TMD1,TH1 p.Trp   41 * details homologous mutations 1 1 1 - -
TMD1,EL1 p.His   52 Gln details homologous mutations 1 3 3 D D ?
TMD1,EL1 p.Cys   54 Tyr details homologous mutations 30 63 76 D D
TMD1,EL1 p.Cys   54 Gly details homologous mutations 1 5 9 D D ?
TMD1,EL1 p.Cys   54 Thr details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.His   55 Pro details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.His   55 Arg details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Asn   58 Lys details homologous mutations 2 4 6 D D
TMD1,EL1 p.Ala   60 Val details homologous mutations 6 9 9 D D
TMD1,EL1 p.Ala   60 Thr details homologous mutations 2 5 5 D D
TMD1,EL1 p.Ala   60 Glu details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Pro   62 Ser details homologous mutations 2 7 7 N D ?
TMD1,EL1 p.Gly   65 Glu details homologous mutations 7 11 11 D D D
TMD1,EL1 p.Pro   68 Arg details homologous mutations 3 4 6 D D
TMD1,EL1 p.Pro   68 Leu details homologous mutations 7 11 18 D D
TMD1,EL1 p.Gly   72 Arg details homologous mutations 2 2 2 D D
TMD1,EL1 p.Cys   75 Gly details homologous mutations 6 11 11 D D
TMD1,EL1 p.Pro   87 Asn details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Glu   89 * details homologous mutations 1 3 3 - - ?
TMD1,EL1 p.Asn   96 Lys details homologous mutations 4 11 16 N D ?
TMD1,EL1 p.Asn   96 His details homologous mutations 4 6 11 D D
TMD1,EL1 p.Asn   96 Asp details homologous mutations 13 22 36 D D
TMD1,EL1 p.Ser  100 Ala details homologous mutations 1 5 24 N N ?
TMD1,EL1 p.Ser  100 Pro details homologous mutations 5 15 16 D D
TMD1,EL1 p.Ser  100 Cys details homologous mutations 1 3 3 N D ?
TMD1,EL1 p.Tyr  106 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Tyr  106 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Arg  107 * details homologous mutations 1 2 2 - - ?
TMD1,EL1 p.Met  114 Ile details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Pro  143 Leu details homologous mutations 2 3 3 N D
TMD1,EL1 p.Arg  149 Trp details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Arg  152 * details homologous mutations 9 30 50 - -
TMD1,EL1 p.Arg  152 Gln details homologous mutations 15 29 33 D N
TMD1,EL1 p.Arg  152 * details homologous mutations 1 2 2 - -
TMD1,EL1 p.Ile  156 Val details homologous mutations 10 25 32 D N
TMD1,EL1 p.Glu  160 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Glu  161 Lys details homologous mutations 2 6 6 N N
TMD1,EL1 p.Gly  172 Ser details homologous mutations 3 3 4 N N
TMD1,EL1 p.Arg  187 His details homologous mutations 1 15 23 N N ?
TMD1,EL1 p.Arg  187 Cys details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Gln  190 His details homologous mutations 1 2 3 D D
TMD1,EL1 p.Ala  192 Thr details homologous mutations 3 5 6 D N
TMD1,EL1 p.Asp  197 Asn details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Leu  198 Pro details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Ala  204 Thr details homologous mutations 1 1 2 N N ?
TMD1,EL1 p.Ser  206 Arg details homologous mutations 3 7 9 D N
TMD1,EL1 p.Arg  212 Cys details homologous mutations 34 71 100 D D D
TMD1,EL1 p.Arg  212 His details homologous mutations 17 32 33 D N N
TMD1,EL1 p.Arg  219 Thr details homologous mutations 6 7 8 N N
TMD1,EL1 p.Arg  219 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Arg  219 * details homologous mutations 1 4 5 - - ?
TMD1,EL1 p.Arg  220 Cys details homologous mutations 3 5 6 D N
TMD1,EL1 p.Gly  221 Arg details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Lys  223 Gln details homologous mutations 3 6 6 N N ?
TMD1,EL1 p.Cys  230 Ser details homologous mutations 3 6 6 D D ?
TMD1,EL1 p.Gln  234 * details homologous mutations 2 4 4 - - ?
TMD1,EL1 p.Thr  236 * details homologous mutations 1 4 4 - - ?
TMD1,EL1 p.Glu  241 Asp details homologous mutations 1 4 4 N N ?
TMD1,EL1 p.Leu  244 Pro details homologous mutations 3 8 8 D D
TMD1,EL1 p.Tyr  245 * details homologous mutations 3 6 7 - - ?
TMD1,EL1 p.Tyr  245 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Asn  247 Ile details homologous mutations 1 1 1 D D
TMD1,EL1 p.Asn  247 Ser details homologous mutations 2 3 3 D N
TMD1,EL1 p.Asn  247 Thr details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Asp  249 Gly details homologous mutations 2 6 6 D D
TMD1,EL1 p.Arg  255 Cys details homologous mutations 1 2 2 D D D
TMD1,EL1 p.Leu  257 Arg details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Gln  285 * details homologous mutations 1 2 2 - - ?
TMD1,EL1 p.Arg  290 Gln details homologous mutations 1 2 2 D N ?
TMD1,EL1 p.Arg  290 Trp details homologous mutations 5 10 11 D D ?
TMD1,EL1 p.Pro  291 Leu details homologous mutations 3 3 3 N D
TMD1,EL1 p.Thr  300 Asn details homologous mutations 3 4 4 D N
TMD1,EL1 p.Pro  309 Arg details homologous mutations 2 3 6 D D
TMD1,EL1 p.Glu  310 Gln details homologous mutations 1 1 1 N N
TMD1,EL1 p.Glu  328 Val details homologous mutations 1 1 1 D D
TMD1,EL1 p.Gly  330 Asp details homologous mutations 1 1 1 D D
TMD1,EL1 p.Arg  333 Trp details homologous mutations 1 2 2 D D
TMD1,EL1 p.Ser  336 Cys details homologous mutations 3 4 4 D D
TMD1,EL1 p.Trp  339 Gly details homologous mutations 2 6 6 D D
TMD1,EL1 p.Tyr  340 Asp details homologous mutations 2 8 8 D D D
TMD1,EL1 p.Glu  341 Gly details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Lys  346 Thr details homologous mutations 6 8 8 D D
TMD1,EL1 p.Tyr  362 * details homologous mutations 7 16 18 - -
TMD1,EL1 p.Asn  380 Lys details homologous mutations 3 6 6 D D
TMD1,EL1 p.Pro  402 Ala details homologous mutations 2 3 3 N D ?
TMD1,EL1 p.Ala  407 Val details homologous mutations 1 2 2 N N
TMD1,EL1 p.Arg  408 * details homologous mutations 2 5 5 - - D
TMD1,EL1 p.Arg  408 * details homologous mutations 3 6 8 - - D
TMD1,EL1 p.Asn  415 Lys details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Thr  417 Ala details homologous mutations 1 5 24 N D ?
TMD1,EL1 p.Phe  418 Ser details homologous mutations 3 3 3 D D
TMD1,EL1 p.His  423 Arg details homologous mutations 20 67 77 N N N
TMD1,EL1 p.Val  424 Ala details homologous mutations 1 2 2 N N ?
TMD1,EL1 p.Lys  429 Arg details homologous mutations 2 3 4 N N ?
TMD1,EL1 p.Ser  445 Arg details homologous mutations 2 3 3 D D
TMD1,EL1 p.Thr  446 Ala details homologous mutations 1 3 22 N N ?
TMD1,EL1 p.Met  448 Lys details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Glu  471 Lys details homologous mutations 16 29 33 D N
TMD1,EL1 p.Ile  478 Thr details homologous mutations 1 4 4 N D ?
TMD1,EL1 p.Asp  498 Asn details homologous mutations 1 1 1 D N
TMD1,EL1 p.Thr  506 Ala details homologous mutations 1 5 24 N N ?
TMD1,EL1 p.Asp  507 Tyr details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Leu  510 Arg details homologous mutations 2 12 28 D D ?
TMD1,EL1 p.Arg  511 His details homologous mutations 2 5 5 D N ?
TMD1,EL1 p.Arg  511 Cys details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Asp  523 Glu details homologous mutations 1 2 2 D D
TMD1,EL1 p.Phe  525 Cys details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Glu  526 Ala details homologous mutations 2 2 3 D D ?
TMD1,EL1 p.Asn  529 Ser details homologous mutations 1 3 3 N N ?
TMD1,EL1 p.Arg  537 Cys details homologous mutations 3 4 13 D D
TMD1,EL1 p.Ala  538 Asp details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Ala  538 Val details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Leu  541 Pro details homologous mutations 75 313 518 D D
TMD1,EL1 p.Ala  549 Pro details homologous mutations 1 2 4 D D
TMD1,EL1 p.Gly  550 Arg details homologous mutations 4 9 11 D D
TMD1,EL1 p.Val  552 Ile details homologous mutations 5 26 27 N N
TMD1,EL1 p.Val  567 Met details homologous mutations 1 1 2 D N
TMD1,EL1 p.Arg  572 * details homologous mutations 2 3 4 - - ?
TMD1,EL1 p.Arg  572 Gln details homologous mutations 7 16 21 D D D
TMD1,EL1 p.Arg  572 Pro details homologous mutations 2 7 8 D D
TMD1,EL1 p.Asp  576 His details homologous mutations 3 5 6 N D ?
TMD1,EL1 p.Asn  582 Ser details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Lys  583 Asn details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Asp  586 Gly details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Arg  587 Lys details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Pro  597 Ser details homologous mutations 1 5 5 N D
TMD1,EL1 p.Asp  600 Glu details homologous mutations 3 3 5 N D ?
TMD1,EL1 p.Asp  600 Tyr details homologous mutations 1 1 2 D D
TMD1,EL1 p.Arg  602 Trp details homologous mutations 27 110 136 D D
TMD1,EL1 p.Arg  602 Gln details homologous mutations 7 14 18 D D
TMD1,EL1 p.Arg  602 Thr details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Ile  604 Ser details homologous mutations 1 5 6 D D
TMD1,EL1 p.Trp  605 Ser details homologous mutations 1 9 9 D D ?
TMD1,EL1 p.Gly  606 Ala details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.Gly  606 Asp details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Gly  607 Arg details homologous mutations 7 26 31 D D
TMD1,EL1 p.Gly  607 Trp details homologous mutations 1 2 2 D D
TMD1,EL1 p.Phe  608 Leu details homologous mutations 2 13 13 D D
TMD1,EL1 p.Phe  608 Ile details homologous mutations 7 14 16 D D ?
TMD1,EL1 p.Val  615 Ala details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Glu  616 Lys details homologous mutations 1 1 2 N D ?
TMD1,EL1 p.Gly  618 Arg details homologous mutations 1 2 4 D D ?
TMD1,EL1 p.Gly  618 Glu details homologous mutations 2 7 7 D D
TMD1,EL1 p.Gln  623 Arg details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Glu  627 Ala details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Gln  635 Lys details homologous mutations 2 3 4 D D
TMD1,EL1 p.Gln  635 * details homologous mutations 1 1 1 - -
TMD1,EL1 p.Gln  636 His details homologous mutations 5 10 11 D D
TMD1,EL1 p.Gln  636 * details homologous mutations 2 4 5 - - ?
TMD1,EL1 p.Gln  636 * details homologous mutations 1 3 3 - - ?
TMD1,EL1 p.Tyr  639 * details homologous mutations 3 6 6 - -
TMD1,EL1 p.Cys  641 Ser details homologous mutations 3 5 5 N D
TMD1,EL1 p.Phe  642 Ile details homologous mutations 2 4 6 N D ?
TMD1,EL1 p.Phe  642 Leu details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Val  643 Gly details homologous mutations 6 10 11 D D
TMD1,EL1 p.Val  643 Met details homologous mutations 5 8 10 D N N
TMD1,EL1 p.Asp  645 Asn details homologous mutations 5 12 14 D D
TMD1,EL1 p.Arg  653 Cys details homologous mutations 11 17 19 D D
TMD1,TH2 p.Phe  655 Cys details homologous mutations 5 11 12 N D ?
TMD1,TH2 p.Met  659 Ile details homologous mutations 1 1 1 N D ?
TMD1,TH2 p.Trp  663 * details homologous mutations 7 21 26 - -
TMD1,CL1 p.Val  675 Ile details homologous mutations 1 1 1 N N ?
TMD1,CL1 p.Lys  678 Asn details homologous mutations 1 1 1 N D ?
TMD1,CL1 p.Arg  681 * details homologous mutations 9 21 26 - -
TMD1,CL1 p.Arg  681 * details homologous mutations 2 3 3 - -
TMD1,CL1 p.Leu  686 Ser details homologous mutations 1 2 2 D D
TMD1,CL1 p.Gly  690 Asp details homologous mutations 1 2 2 D D ?
TMD1,CL1 p.Gly  690 Val details homologous mutations 2 2 3 D D ?
TMD1,TH3 p.Trp  697 * details homologous mutations 2 3 3 - -
TMD1,TH3 p.Cys  698 Tyr details homologous mutations 1 1 2 D N ?
TMD1,TH3 p.Trp  700 * details homologous mutations 4 6 6 - -
TMD1,TH3 p.Thr  716 Met details homologous mutations 1 2 2 D N
TMD1,EL2 p.Leu  725 Ile details homologous mutations 1 1 2 N N ?
TMD1,TH4 p.Cys  748 Tyr details homologous mutations 2 7 7 D D ?
TMD1,CL2 p.Ala  762 Glu details homologous mutations 3 4 4 D D ?
TMD1,TH5 p.Cys  764 Tyr details homologous mutations 3 9 10 D D
TMD1,TH5 p.Ser  765 Arg details homologous mutations 2 9 10 D D
TMD1,TH5 p.Ser  765 Asn details homologous mutations 1 2 2 D N
TMD1,TH5 p.Gly  766 Asp details homologous mutations 1 1 2 D D ?
TMD1,TH5 p.Gly  766 Val details homologous mutations 1 2 2 D D ?
TMD1,TH5 p.Val  767 Asp details homologous mutations 17 51 62 D D
TMD1,EL3 p.Trp  782 * details homologous mutations 1 2 2 - - ?
TMD1,EL3 p.Ser  795 Arg details homologous mutations 2 4 5 N D ?
TMD1,EL3 p.Leu  797 Pro details homologous mutations 1 2 4 D D
TMD1,EL3 p.Ala  801 Thr details homologous mutations 2 2 3 N D ?
TMD1,EL3 p.Tyr  808 * details homologous mutations 1 12 12 - - ?
TMD1,EL3 p.Tyr  808 * details homologous mutations 1 1 1 - - ?
TMD1,EL3 p.Gly  818 Glu details homologous mutations 7 18 25 D D
TMD1,EL3 p.Trp  821 Arg details homologous mutations 16 26 37 D D
TMD1,EL3 p.Ile  824 Thr details homologous mutations 2 8 10 D D ?
TMD1,TH6 p.Leu  837 Pro details homologous mutations 1 2 2 D D ?
TMD1,TH6 p.Met  840 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH6 p.Asp  846 His details homologous mutations 3 5 5 D D
TMD1,TH6 p.Ala  848 Asp details homologous mutations 2 3 3 N D ?
TMD1,TH6 p.Val  849 Ala details homologous mutations 5 7 9 D N
TMD1,TH6 p.Tyr  850 Lys details homologous mutations 1 3 3 D D ?
TMD1,TH6 p.Tyr  850 Cys details homologous mutations 1 3 3 D D ?
TMD1,TH6 p.Gly  851 Asp details homologous mutations 5 15 18 D D
TMD1,TH6 p.Ala  854 Thr details homologous mutations 5 7 7 N N
TMD1,TH6 p.Trp  855 * details homologous mutations 4 17 19 - - D
TMD1,TH6 p.Trp  855 * details homologous mutations 1 2 2 - - D
TMD1,TH6 p.Tyr  856 * details homologous mutations 1 2 2 - - ?
CL3 p.Pro  862 Leu details homologous mutations 1 3 3 D D
CL3 p.Gly  863 Ala details homologous mutations 83 322 505 D D D
CL3 p.Pro  868 Ala details homologous mutations 1 2 2 N D ?
CL3 p.Phe  873 Ile details homologous mutations 1 2 2 N D ?
CL3 p.Phe  873 Leu details homologous mutations 1 2 2 D D
CL3 p.Gln  876 Pro details homologous mutations 1 1 1 N D ?
CL3 p.Gly  885 Glu details homologous mutations 1 1 1 D N ?
CL3 p.Lys  896 Glu details homologous mutations 1 4 4 N N ?
CL3 p.Thr  897 Ile details homologous mutations 6 12 16 D N
CL3 p.Thr  901 Ala details homologous mutations 13 33 34 D N
CL3 p.Thr  901 Arg details homologous mutations 1 2 2 N N ?
CL3 p.His  914 Ala details homologous mutations 1 1 1 D N ?
CL3,NBD1 p.Val  931 Met details homologous mutations 10 31 33 D N D
CL3,NBD1 p.Val  935 Ala details homologous mutations 5 7 10 D N
CL3,NBD1 p.Phe  938 Ser details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Pro  940 Arg details homologous mutations 5 99 113 N N ?
CL3,NBD1 p.Arg  943 Gln details homologous mutations 34 207 247 D N
CL3,NBD1 p.Arg  943 Trp details homologous mutations 4 6 9 D D
CL3,NBD1 p.Arg  943 Glu details homologous mutations 1 2 2 D N ?
CL3,NBD1 p.Tyr  954 Ser details homologous mutations 1 7 9 D D ?
CL3,NBD1 p.Tyr  954 Asp details homologous mutations 1 2 2 D D
CL3,NBD1 p.Glu  955 Gly details homologous mutations 1 3 4 D D ?
CL3,NBD1 p.Thr  959 Ile details homologous mutations 4 14 15 D D
CL3,NBD1 p.Thr  959 Ala details homologous mutations 1 3 3 N D ?
CL3,NBD1,WA1 p.Gly  963 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1,WA1 p.Asn  965 Ser details homologous mutations 35 75 115 D D ?
CL3,NBD1,WA1 p.Asn  965 Lys details homologous mutations 1 2 2 N D ?
CL3,NBD1,WA1 p.Asn  965 Met details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Asn  965 Tyr details homologous mutations 2 3 3 D D ?
CL3,NBD1,WA1 p.Gly  966 Asp details homologous mutations 1 2 4 D D ?
CL3,NBD1,WA1 p.Lys  969 Met details homologous mutations 6 24 40 D D ?
CL3,NBD1,WA1 p.Lys  969 Arg details homologous mutations 1 1 1 N D ?
CL3,NBD1,WA1 p.Lys  969 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1,WA1 p.Thr  970 Pro details homologous mutations 1 1 3 D D ?
CL3,NBD1,WA1 p.Thr  970 Ala details homologous mutations 1 4 4 N D ?
CL3,NBD1 p.Thr  971 Asn details homologous mutations 4 12 12 D D
CL3,NBD1 p.Thr  972 Asn details homologous mutations 8 18 18 D D
CL3,NBD1 p.Ser  974 Pro details homologous mutations 2 3 3 D D
CL3,NBD1 p.Thr  977 Pro details homologous mutations 1 1 2 N D ?
CL3,NBD1 p.Gly  978 Asp details homologous mutations 2 3 3 D D
CL3,NBD1 p.Pro  981 Leu details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Pro  982 Leu details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Thr  983 Ala details homologous mutations 2 3 3 N D ?
CL3,NBD1 p.Val  989 Ala details homologous mutations 13 20 27 D D
CL3,NBD1 p.Gly  991 Arg details homologous mutations 9 13 14 D D
CL3,NBD1 p.Gly  991 * details homologous mutations 2 7 7 - -
CL3,NBD1 p.Gly  991 Val details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Gln 1003 * details homologous mutations 1 1 1 - - ?
CL3,NBD1 p.Gln 1003 * details homologous mutations 3 3 3 - - ?
CL3,NBD1 p.Leu 1014 Arg details homologous mutations 3 5 5 D D
CL3,NBD1 p.Phe 1015 Glu details homologous mutations 1 1 3 D D ?
CL3,NBD1 p.Thr 1019 Met details homologous mutations 15 16 25 D D ?
CL3,NBD1 p.Thr 1019 Ala details homologous mutations 1 2 2 D D
CL3,NBD1 p.Glu 1022 Lys details homologous mutations 6 9 10 D D
CL3,NBD1 p.Phe 1026 Leu details homologous mutations 1 1 2 N D ?
CL3,NBD1 p.Ala 1028 Val details homologous mutations 2 3 3 D D D
CL3,NBD1 p.Gln 1029 * details homologous mutations 1 1 1 - -
CL3,NBD1 p.Lys 1031 Glu details homologous mutations 1 2 2 D D
CL3,NBD1 p.Glu 1036 Lys details homologous mutations 2 2 2 N N D
CL3,NBD1 p.Ala 1038 Val details homologous mutations 85 354 593 N N D
CL3,NBD1 p.Leu 1046 Trp details homologous mutations 1 1 2 D D ?
CL3,NBD1 p.Gly 1050 Asp details homologous mutations 1 2 2 N D
CL3,NBD1 p.Gly 1050 Ser details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Arg 1055 Trp details homologous mutations 2 5 6 D D
CL3,NBD1,SIG1 p.Ser 1063 Pro details homologous mutations 2 3 4 D D
CL3,NBD1,SIG1 p.Arg 1068 Ser details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Lys 1069 Glu details homologous mutations 1 1 1 N D ?
CL3,NBD1,SIG1 p.Ser 1071 Val details homologous mutations 1 2 2 N D ?
CL3,NBD1,SIG1 p.Ser 1071 Leu details homologous mutations 1 4 4 D D
CL3,NBD1,SIG1 p.Val 1072 Ala details homologous mutations 2 3 3 D D ?
CL3,NBD1 p.Gly 1078 Glu details homologous mutations 2 2 3 N D ?
CL3,NBD1 p.Glu 1087 Asp details homologous mutations 4 8 9 D D
CL3,NBD1 p.Glu 1087 Lys details homologous mutations 17 25 28 D D
CL3,NBD1 p.Glu 1087 * details homologous mutations 2 4 6 - - ?
CL3,NBD1 p.Thr 1089 Ile details homologous mutations 1 2 2 N D ?
CL3,NBD1 p.Asp 1093 Glu details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg 1097 Cys details homologous mutations 2 8 10 D D ?
CL3,NBD1 p.Arg 1097 Ser details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg 1097 * details homologous mutations 1 2 2 - -
CL3,NBD1 p.Arg 1098 Cys details homologous mutations 9 15 17 D D ?
CL3,NBD1 p.Ser 1099 * details homologous mutations 1 1 2 - - ?
CL3,NBD1 p.Ser 1099 Pro details homologous mutations 2 3 3 D D
CL3,NBD1 p.Ile 1100 Asn details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Trp 1101 * details homologous mutations 1 2 2 - -
CL3,NBD1 p.Asp 1102 Val details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg 1108 Cys details homologous mutations 42 127 158 D D D
CL3,NBD1 p.Arg 1108 His details homologous mutations 9 10 11 D D
CL3,NBD1 p.Arg 1108 Leu details homologous mutations 1 2 2 D D
CL3,NBD1 p.Arg 1108 Trp details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Thr 1112 Asn details homologous mutations 2 2 2 D D
CL3,NBD1 p.Thr 1117 Ile details homologous mutations 4 5 5 D D ?
CL3,NBD1 p.His 1118 Tyr details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Glu 1122 Lys details homologous mutations 11 22 25 D D D
CL3,NBD1 p.Glu 1122 Asp details homologous mutations 1 5 6 D D
CL3,NBD1 p.Asp 1124 Tyr details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Gly 1127 Glu details homologous mutations 1 12 12 D D ?
CL3,NBD1 p.Gly 1127 Lys details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Arg 1129 Leu details homologous mutations 28 105 135 D D
CL3,NBD1 p.Arg 1129 His details homologous mutations 3 8 9 D D ?
CL3,NBD1 p.Arg 1129 Cys details homologous mutations 7 62 67 D D ?
CL3,NBD1 p.Ile 1133 Thr details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Leu 1138 Pro details homologous mutations 2 2 3 D D ?
CL3,NBD1 p.Lys 1148 Thr details homologous mutations 1 3 3 D D ?
CL3,NBD1 p.Cys 1150 Tyr details homologous mutations 1 1 1 D N ?
CL3 p.Arg 1161 Ser details homologous mutations 3 4 5 D D ?
CL3 p.Cys 1177 * details homologous mutations 1 1 4 - -
CL3 p.Ser 1185 Ala details homologous mutations 1 11 11 D N ?
CL3 p.Leu 1195 Arg details homologous mutations 1 1 1 D N ?
CL3 p.Leu 1201 Arg details homologous mutations 18 43 53 D N
CL3 p.Gly 1203 Glu details homologous mutations 1 1 1 N D ?
CL3 p.Gly 1203 Asp details homologous mutations 1 2 2 D D ?
CL3 p.Asp 1204 Asn details homologous mutations 1 4 4 N N
CL3 p.Met 1209 Thr details homologous mutations 1 1 1 N N N
CL3 p.Ala 1219 Pro details homologous mutations 1 2 2 N D ?
CL3 p.Leu 1246 Val details homologous mutations 1 6 6 N N ?
CL3 p.Leu 1250 Pro details homologous mutations 1 2 2 D D
CL3 p.Glu 1252 * details homologous mutations 1 1 1 - -
CL3 p.Glu 1252 * details homologous mutations 1 1 1 - -
CL3 p.Thr 1253 Met details homologous mutations 6 23 27 N N
CL3 p.Thr 1253 Leu details homologous mutations 1 3 3 N D ?
CL3 p.Glu 1270 * details homologous mutations 1 1 1 - -
CL3 p.Glu 1271 Gly details homologous mutations 1 1 1 N D ?
CL3 p.Glu 1271 Asp details homologous mutations 1 1 1 N D ?
CL3 p.Arg 1300 * details homologous mutations 6 11 11 - -
CL3 p.Arg 1300 Gln details homologous mutations 11 33 50 D N
CL3 p.Arg 1300 * details homologous mutations 4 5 5 - -
CL3 p.Thr 1313 Ala details homologous mutations 1 11 11 N N ?
CL3 p.Pro 1314 Thr details homologous mutations 2 3 3 N N
CL3 p.Ser 1317 Ala details homologous mutations 1 9 9 N N ?
CL3 p.Gln 1332 * details homologous mutations 2 2 3 - -
CL3 p.Leu 1352 Ala details homologous mutations 1 1 1 D N ?
CL3 p.Ala 1357 Thr details homologous mutations 1 6 6 N D ?
CL3 p.Ala 1357 Glu details homologous mutations 1 2 2 N D ?
CL3 p.Ala 1357 Val details homologous mutations 1 1 1 N D ?
CL3 p.Leu 1358 Ala details homologous mutations 1 1 1 D D ?
CL3 p.Arg 1368 Cys details homologous mutations 2 8 19 D D ?
TMD2,TH7 p.Pro 1380 Leu details homologous mutations 44 142 239 D D D
TMD2,TH7 p.Pro 1380 Phe details homologous mutations 1 1 1 D D ?
TMD2,TH7 p.Leu 1388 Pro details homologous mutations 1 2 4 D D
TMD2,TH7 p.Leu 1390 Pro details homologous mutations 2 3 4 D D
TMD2,EL4 p.Val 1393 Ile details homologous mutations 1 2 2 N N ?
TMD2,EL4 p.Pro 1395 Leu details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Glu 1399 Lys details homologous mutations 6 10 18 D N D
TMD2,EL4 p.Glu 1399 * details homologous mutations 1 1 1 - - D
TMD2,EL4 p.His 1406 Tyr details homologous mutations 4 8 8 D N
TMD2,EL4 p.His 1406 Arg details homologous mutations 1 1 1 D N ?
TMD2,EL4 p.Trp 1408 Arg details homologous mutations 16 69 91 D D
TMD2,EL4 p.Trp 1408 Leu details homologous mutations 3 24 26 D D
TMD2,EL4 p.Trp 1408 * details homologous mutations 1 1 1 - - ?
TMD2,EL4 p.Trp 1408 Cys details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Gln 1412 * details homologous mutations 7 13 21 - -
TMD2,EL4 p.Gln 1412 * details homologous mutations 8 13 14 - -
TMD2,EL4 p.Thr 1415 Pro details homologous mutations 1 4 4 D D ?
TMD2,EL4 p.Phe 1416 Leu details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Met 1419 Thr details homologous mutations 2 4 5 N N ?
TMD2,EL4 p.Thr 1428 Met details homologous mutations 12 21 21 D N N
TMD2,EL4 p.Val 1429 Ala details homologous mutations 1 1 1 N N
TMD2,EL4 p.Leu 1430 Pro details homologous mutations 1 2 3 D D ?
TMD2,EL4 p.Val 1433 Ile details homologous mutations 14 30 34 D N
TMD2,EL4 p.Asn 1436 Ile details homologous mutations 1 1 2 D D ?
TMD2,EL4 p.Gly 1439 Asp details homologous mutations 1 4 4 D D
TMD2,EL4 p.Phe 1440 Ser details homologous mutations 7 16 26 D D
TMD2,EL4 p.Phe 1440 Val details homologous mutations 3 5 6 D N
TMD2,EL4 p.Gly 1441 Asp details homologous mutations 2 2 2 D D ?
TMD2,EL4 p.Asn 1442 Lys details homologous mutations 3 4 5 N N ?
TMD2,EL4 p.Arg 1443 His details homologous mutations 9 45 50 D D
TMD2,EL4 p.Arg 1443 Gln details homologous mutations 1 2 2 D N ?
TMD2,EL4 p.Cys 1444 Ala details homologous mutations 1 1 1 N D ?
TMD2,EL4 p.Gly 1448 Arg details homologous mutations 1 1 2 N N ?
TMD2,EL4 p.Trp 1449 * details homologous mutations 1 2 2 - -
TMD2,EL4 p.Cys 1455 Arg details homologous mutations 2 4 4 D D ?
TMD2,EL4 p.Trp 1461 * details homologous mutations 1 1 2 - - ?
TMD2,EL4 p.Thr 1471 Ala details homologous mutations 1 3 12 N N ?
TMD2,EL4 p.Leu 1473 Met details homologous mutations 1 1 2 N N ?
TMD2,EL4 p.Trp 1479 * details homologous mutations 1 1 4 - -
TMD2,EL4 p.Pro 1484 Ser details homologous mutations 1 1 6 N D ?
TMD2,EL4 p.Pro 1486 Leu details homologous mutations 14 19 27 D D
TMD2,EL4 p.Cys 1488 Arg details homologous mutations 20 59 65 D D
TMD2,EL4 p.Cys 1488 Tyr details homologous mutations 3 8 10 D D
TMD2,EL4 p.Cys 1488 Phe details homologous mutations 1 2 2 D D
TMD2,EL4 p.Arg 1489 Ser details homologous mutations 1 2 2 D N ?
TMD2,EL4 p.Cys 1490 Tyr details homologous mutations 31 114 175 D D D
TMD2,EL4 p.Cys 1502 * details homologous mutations 2 4 4 - -
TMD2,EL4 p.Cys 1502 Arg details homologous mutations 1 12 12 D D ?
TMD2,EL4 p.Gly 1507 Arg details homologous mutations 1 2 2 D D ?
TMD2,EL4 p.Gly 1508 Cys details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Pro 1512 His details homologous mutations 1 1 2 N D ?
TMD2,EL4 p.Pro 1512 Arg details homologous mutations 1 2 2 N D
TMD2,EL4 p.Gln 1513 Pro details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Gln 1513 Arg details homologous mutations 3 5 5 D N
TMD2,EL4 p.Arg 1517 Ser details homologous mutations 5 6 6 N N
TMD2,EL4 p.Ser 1518 Arg details homologous mutations 1 2 2 N D ?
TMD2,EL4 p.Thr 1519 Arg details homologous mutations 1 2 2 N N ?
TMD2,EL4 p.Leu 1525 Pro details homologous mutations 1 2 2 D D
TMD2,EL4 p.Thr 1526 Met details homologous mutations 15 31 44 D D D
TMD2,EL4 p.Ser 1531 Ala details homologous mutations 1 3 12 N D ?
TMD2,EL4 p.Asp 1532 Glu details homologous mutations 1 2 2 N D D
TMD2,EL4 p.Asp 1532 Asn details homologous mutations 7 18 19 D D D
TMD2,EL4 p.Thr 1537 Met details homologous mutations 2 15 16 D D
TMD2,EL4 p.Leu 1541 Pro details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Ser 1545 Asn details homologous mutations 1 2 3 N N ?
TMD2,EL4 p.Lys 1547 * details homologous mutations 4 5 5 - - ?
TMD2,EL4 p.Trp 1551 * details homologous mutations 1 6 6 - - ?
TMD2,EL4 p.Trp 1551 * details homologous mutations 1 2 2 - - ?
TMD2,EL4 p.Glu 1554 Gly details homologous mutations 1 3 3 D D ?
TMD2,EL4 p.Arg 1556 Thr details homologous mutations 1 5 7 D D ?
TMD2,EL4 p.Tyr 1557 Cys details homologous mutations 2 4 5 D D ?
TMD2,EL4 p.Ile 1562 Thr details homologous mutations 13 25 27 D D
TMD2,EL4 p.Thr 1572 Met details homologous mutations 4 7 7 N N ?
TMD2,EL4 p.Glu 1574 * details homologous mutations 1 1 1 - - ?
TMD2,EL4 p.Gly 1578 Arg details homologous mutations 5 6 6 N N
TMD2,EL4 p.Leu 1580 Ser details homologous mutations 3 6 7 D N ?
TMD2,EL4 p.Leu 1580 * details homologous mutations 1 1 1 - - ?
TMD2,EL4 p.Leu 1583 Pro details homologous mutations 1 5 6 D D
TMD2,EL4 p.Ser 1590 Ala details homologous mutations 1 3 12 N N ?
TMD2,EL4 p.Ala 1598 Asp details homologous mutations 14 22 36 D N
TMD2,EL4 p.Ala 1598 Gly details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Asp 1613 Asn details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Ile 1615 Val details homologous mutations 1 1 1 N N ?
TMD2,EL4 p.Val 1617 Met details homologous mutations 1 1 2 N N ?
TMD2,EL4 p.Gly 1623 Ser details homologous mutations 1 4 5 D D
TMD2,EL4 p.Trp 1624 Gly details homologous mutations 1 1 2 D D ?
TMD2,EL4 p.Leu 1631 Pro details homologous mutations 1 1 1 D D
TMD2,EL4 p.Ala 1637 Thr details homologous mutations 2 6 6 D D
TMD2,EL4 p.Arg 1640 Trp details homologous mutations 22 82 109 D D
TMD2,EL4 p.Arg 1640 Gln details homologous mutations 12 25 32 D D
TMD2,EL4 p.Ser 1642 Arg details homologous mutations 6 18 21 N N
TMD2,EL4 p.Tyr 1652 Asp details homologous mutations 2 3 3 D D
TMD2,EL4 p.Tyr 1652 * details homologous mutations 1 2 2 - -
TMD2,EL4 p.Leu 1661 * details homologous mutations 1 2 2 - - ?
TMD2,EL4 p.Thr 1664 Ala details homologous mutations 1 3 12 N D ?
TMD2,EL4 p.Thr 1676 Pro details homologous mutations 1 1 2 N D ?
TMD2,TH8 p.Val 1686 Met details homologous mutations 1 1 1 N D
TMD2,TH8 p.Ser 1689 Pro details homologous mutations 5 8 9 D N
TMD2,TH8 p.Val 1693 Ile details homologous mutations 4 7 7 D N
TMD2,TH8 p.Ala 1695 Asp details homologous mutations 1 2 2 N D ?
TMD2,TH8 p.Ser 1696 Asn details homologous mutations 6 10 11 D D
TMD2,TH8 p.Ser 1696 Arg details homologous mutations 1 2 2 N D ?
TMD2,CL4 p.Gln 1703 Lys details homologous mutations 1 1 1 D N ?
TMD2,CL4 p.Arg 1705 Gln details homologous mutations 6 14 15 N D ?
TMD2,CL4 p.Arg 1705 Trp details homologous mutations 3 4 4 D D ?
TMD2,CL4 p.Arg 1705 Leu details homologous mutations 2 3 4 D D
TMD2,CL4 p.Gln 1713 Arg details homologous mutations 1 1 1 N D ?
TMD2,TH9 p.Tyr 1723 * details homologous mutations 1 3 3 - - ?
TMD2,TH9 p.Trp 1724 Cys details homologous mutations 2 9 10 D D ?
TMD2,TH9 p.Thr 1726 Asn details homologous mutations 1 1 1 N N ?
TMD2,TH9 p.Leu 1729 Pro details homologous mutations 3 5 5 D D
TMD2,TH9 p.Met 1733 Thr details homologous mutations 1 1 1 D N ?
TMD2,TH9 p.Ser 1736 Pro details homologous mutations 3 4 5 D N
TMD2,TH9 p.Val 1743 Ile details homologous mutations 1 2 2 N N ?
TMD2,EL5 p.Gly 1748 Arg details homologous mutations 3 5 6 D D
TMD2,EL5 p.Gln 1750 * details homologous mutations 4 8 15 - -
TMD2,EL5 p.Tyr 1754 Asp details homologous mutations 1 1 1 D D ?
TMD2,TH10 p.Ala 1762 Asp details homologous mutations 1 1 1 D D D
TMD2,TH10 p.Leu 1763 Pro details homologous mutations 2 3 3 D D
TMD2,TH10 p.Tyr 1770 Asp details homologous mutations 1 1 1 D D ?
TMD2,TH10 p.Ala 1773 Val details homologous mutations 12 31 38 N D ?
TMD2,TH10 p.Ile 1775 Asn details homologous mutations 1 7 9 D N ?
TMD2,TH10 p.Pro 1776 Leu details homologous mutations 1 2 4 D D ?
TMD2,TH10 p.Tyr 1779 His details homologous mutations 1 7 9 N D ?
TMD2,TH11 p.Ala 1794 Asp details homologous mutations 2 4 4 D D
TMD2,TH11 p.Asn 1799 Asp details homologous mutations 7 9 9 D D
TMD2,TH11 p.Asn 1805 Asp details homologous mutations 5 10 13 D D
TMD2,EL6 p.Arg 1820 Pro details homologous mutations 1 2 2 D N
TMD2,EL6 p.His 1838 Asp details homologous mutations 3 9 11 D D
TMD2,EL6 p.His 1838 Tyr details homologous mutations 3 5 5 D D
TMD2,EL6 p.Phe 1839 Ser details homologous mutations 1 2 2 D D ?
TMD2,EL6 p.Arg 1843 Trp details homologous mutations 1 2 2 D D
TMD2,EL6 p.Ile 1846 Thr details homologous mutations 8 11 14 D D
TMD2,EL6 p.Tyr 1858 Asp details homologous mutations 1 3 3 D D ?
TMD2,EL6 p.Arg 1860 Trp details homologous mutations 1 2 2 D D ?
TMD2,EL6 p.Asn 1868 Ile details homologous mutations 25 109 121 D D N
TMD2,TH12 p.Ala 1881 Val details homologous mutations 1 3 3 N D ?
TMD2,TH12 p.Met 1882 Val details homologous mutations 1 4 5 D D
TMD2,TH12 p.Met 1882 Ile details homologous mutations 5 6 7 N D ?
TMD2,TH12 p.Met 1882 Thr details homologous mutations 1 2 2 N D ?
TMD2,TH12 p.Val 1884 Glu details homologous mutations 1 2 2 D D
TMD2,TH12 p.Glu 1885 Lys details homologous mutations 2 3 5 D N
TMD2,TH12 p.Gly 1886 Glu details homologous mutations 3 6 6 D D
TMD2,TH12 p.Leu 1894 Ile details homologous mutations 1 1 1 N N ?
TMD2,TH12 p.Val 1896 Asp details homologous mutations 2 3 4 D D
CL6 p.Arg 1898 His details homologous mutations 18 47 60 D N
CL6 p.Phe 1900 Leu details homologous mutations 1 1 2 N D ?
CL6 p.Val 1921 Met details homologous mutations 1 3 3 D D
CL6 p.Arg 1925 Gly details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Leu 1940 Pro details homologous mutations 6 15 20 D D D
CL6,NBD2 p.Glu 1942 Gln details homologous mutations 1 5 5 N N ?
CL6,NBD2 p.Pro 1948 Leu details homologous mutations 15 37 38 D N N
CL6,NBD2 p.Pro 1948 Ile details homologous mutations 1 2 2 D N ?
CL6,NBD2 p.Gly 1961 Glu details homologous mutations 123 780 1430 D D D
CL6,NBD2 p.Gly 1961 Arg details homologous mutations 1 2 3 D D ?
CL6,NBD2 p.Val 1962 Asp details homologous mutations 1 1 2 D D ?
CL6,NBD2 p.Leu 1970 Phe details homologous mutations 18 38 39 D D
CL6,NBD2 p.Leu 1971 Arg details homologous mutations 4 24 24 D D D
CL6,NBD2,WA2 p.Gly 1972 Arg details homologous mutations 1 2 2 D D
CL6,NBD2,WA2 p.Val 1973 * details homologous mutations 2 3 8 - - ?
CL6,NBD2,WA2 p.Gly 1975 Asp details homologous mutations 2 3 5 D D ?
CL6,NBD2,WA2 p.Gly 1975 Arg details homologous mutations 4 7 7 D D
CL6,NBD2,WA2 p.Gly 1977 Ser details homologous mutations 16 33 41 D D
CL6,NBD2,WA2 p.Lys 1978 Met details homologous mutations 6 26 44 D D ?
CL6,NBD2,WA2 p.Lys 1978 Ala details homologous mutations 1 4 4 D D ?
CL6,NBD2,WA2 p.Thr 1979 Ala details homologous mutations 1 6 8 N D ?
CL6,NBD2 p.Leu 2027 Phe details homologous mutations 46 167 237 D D D
CL6,NBD2 p.Arg 2030 * details homologous mutations 4 10 17 - - D
CL6,NBD2 p.Arg 2030 Gln details homologous mutations 31 80 100 D D D
CL6,NBD2 p.Arg 2030 * details homologous mutations 4 7 7 - - D
CL6,NBD2 p.His 2032 Arg details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Leu 2033 Arg details homologous mutations 1 4 4 D D ?
CL6,NBD2 p.Leu 2035 Pro details homologous mutations 2 5 5 D D
CL6,NBD2 p.Arg 2038 Trp details homologous mutations 12 49 50 D D
CL6,NBD2 p.Arg 2040 * details homologous mutations 2 4 4 - -
CL6,NBD2 p.Arg 2040 * details homologous mutations 1 1 1 - -
CL6,NBD2 p.Ile 2047 Asn details homologous mutations 1 3 3 D D ?
CL6,NBD2 p.Val 2050 Leu details homologous mutations 25 68 80 D N
CL6,NBD2 p.Lys 2056 * details homologous mutations 1 2 2 - -
CL6,NBD2 p.Leu 2058 Arg details homologous mutations 1 2 3 D D ?
CL6,NBD2 p.Gly 2059 Ala details homologous mutations 2 2 3 N D ?
CL6,NBD2 p.Leu 2060 Arg details homologous mutations 3 19 21 D D
CL6,NBD2 p.Thr 2070 Arg details homologous mutations 1 2 2 N D ?
CL6,NBD2,SIG2 p.Tyr 2071 Phe details homologous mutations 1 2 2 D D ?
CL6,NBD2,SIG2 p.Ser 2072 Asn details homologous mutations 1 1 1 N D ?
CL6,NBD2,SIG2 p.Gly 2074 Val details homologous mutations 2 7 7 D D ?
CL6,NBD2,SIG2 p.Arg 2077 Trp details homologous mutations 27 45 47 D D
CL6,NBD2,SIG2 p.Arg 2077 Gly details homologous mutations 1 1 1 D D
CL6,NBD2,WB2 p.Asp 2095 Val details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Glu 2096 Lys details homologous mutations 7 10 12 D D
CL6,NBD2 p.Asp 2102 Glu details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Arg 2106 Cys details homologous mutations 12 16 16 D D
CL6,NBD2 p.Arg 2106 Pro details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 2107 His details homologous mutations 30 68 92 D D
CL6,NBD2 p.Arg 2107 Lys details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Arg 2107 Cys details homologous mutations 1 3 4 D D ?
CL6,NBD2 p.Arg 2107 Pro details homologous mutations 1 12 12 D D
CL6,NBD2 p.Trp 2110 * details homologous mutations 1 2 2 - -
CL6,NBD2 p.Ile 2113 * details homologous mutations 1 1 1 - - ?
CL6,NBD2 p.Ile 2113 Met details homologous mutations 2 3 6 N N
CL6,NBD2 p.Arg 2118 Glu details homologous mutations 1 1 1 D N ?
CL6,NBD2 p.Glu 2119 Lys details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.His 2128 Arg details homologous mutations 6 11 11 D D
CL6,NBD2 p.Ser 2129 Gly details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Met 2130 Lys details homologous mutations 2 3 3 D D ?
CL6,NBD2 p.Glu 2131 Lys details homologous mutations 5 9 10 D D
CL6,NBD2 p.Glu 2132 Lys details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Cys 2137 Tyr details homologous mutations 2 14 19 D D ?
CL6,NBD2 p.Arg 2139 Trp details homologous mutations 6 11 12 D D
CL6,NBD2 p.Leu 2140 Gln details homologous mutations 2 3 8 N D ?
CL6,NBD2 p.Ile 2142 Val details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Gly 2146 Asp details homologous mutations 2 22 22 D D
CL6,NBD2 p.Arg 2149 * details homologous mutations 4 9 14 - - D
CL6,NBD2 p.Arg 2149 Leu details homologous mutations 4 6 6 D D
CL6,NBD2 p.Arg 2149 * details homologous mutations 2 3 3 - - D
CL6,NBD2 p.Cys 2150 Trp details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Cys 2150 Arg details homologous mutations 7 10 13 D D
CL6,NBD2 p.Cys 2150 Tyr details homologous mutations 25 37 43 D D
CL6,NBD2 p.Lys 2160 Glu details homologous mutations 1 14 16 D D ?
CL6,NBD2 p.Lys 2160 Arg details homologous mutations 1 1 1 N N
CL6,NBD2 p.Ile 2166 Met details homologous mutations 2 4 4 N N
CL6 p.Lys 2172 Arg details homologous mutations 2 3 6 N N ?
CL6 p.Lys 2175 Ala details homologous mutations 1 22 24 N N ?
CL6 p.Asp 2177 Asn details homologous mutations 37 178 221 D N
CL6 p.Pro 2180 Leu details homologous mutations 1 12 12 N D ?
CL6 p.Phe 2188 Ser details homologous mutations 2 5 6 D D
CL6 p.Tyr 2203 * details homologous mutations 2 16 22 - -
CL6 p.Ala 2216 Val details homologous mutations 1 1 1 N D ?
CL6 p.Phe 2219 Ala details homologous mutations 1 4 5 D D ?
CL6 p.Gln 2220 * details homologous mutations 1 2 2 - -
CL6 p.Gln 2220 * details homologous mutations 1 2 2 - -
CL6 p.Leu 2221 Pro details homologous mutations 1 1 1 D N ?
CL6 p.Leu 2229 Pro details homologous mutations 2 4 4 D D
CL6 p.Ser 2235 Pro details homologous mutations 1 1 1 N D ?
CL6 p.Thr 2237 Pro details homologous mutations 1 1 1 D D ?
CL6 p.Thr 2240 Ala details homologous mutations 2 2 3 N D ?
CL6 p.Leu 2241 Val details homologous mutations 4 7 7 D D
CL6 p.Val 2244 Ile details homologous mutations 1 2 2 N N ?
CL6 p.Ser 2255 Ile details homologous mutations 21 76 104 N N N
CL6 p.Arg 2263 Leu details homologous mutations 1 2 2 D D