Mutations in ABCD1

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Met    1 Val details homologous mutations 2 3 3 N N ?
CL0 p.Asn   13 Thr details homologous mutations 3 13 13 N N ?
CL0 p.Arg   17 His details homologous mutations 1 4 4 N N ?
CL0 p.Arg   17 Trp details homologous mutations 1 2 2 D D ?
TMD1,TH1 p.Ala   19 Ser details homologous mutations 1 16 17 N N ?
TMD1,TH1 p.Tyr   33 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Gln   47 * details homologous mutations 1 1 1 - - ?
TMD1,EL1 p.Ala   57 Val details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Ala   61 Val details homologous mutations 2 6 6 N N ?
TMD1,EL1 p.Ala   61 Gly details homologous mutations 2 4 4 N N ?
TMD1,EL1 p.Phe   71 Ser details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.Phe   71 Val details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.Arg   74 Trp details homologous mutations 3 4 7 D D ?
TMD1,EL1 p.Arg   74 Cys details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Arg   74 Gly details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.Leu   78 Phe details homologous mutations 2 5 8 D D ?
TMD1,EL1 p.Leu   81 Val details homologous mutations 1 1 2 N N ?
TMD1,EL1 p.Pro   84 Ser details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Pro   84 Ala details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.Cys   88 Trp details homologous mutations 1 4 4 D D ?
TMD1,EL1 p.Glu   90 Lys details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Ala   95 Asp details homologous mutations 1 1 1 D N ?
TMD1,TH2 p.Ser   98 Leu details homologous mutations 6 15 18 D D ?
TMD1,TH2 p.Ser   98 Trp details homologous mutations 1 5 5 D D ?
TMD1,TH2 p.Ser   98 * details homologous mutations 1 1 1 - - ?
TMD1,TH2 p.Ala   99 Asp details homologous mutations 1 1 1 D D ?
TMD1,TH2 p.Val  102 Glu details homologous mutations 1 2 2 D D ?
TMD1,TH2 p.Ser  103 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH2 p.Arg  104 His details homologous mutations 5 13 13 D D ?
TMD1,TH2 p.Arg  104 Cys details homologous mutations 9 41 53 D D ?
TMD1,TH2 p.Arg  104 Pro details homologous mutations 1 7 7 D D ?
TMD1,TH2 p.Arg  104 Lys details homologous mutations 1 1 1 D D ?
TMD1,TH2 p.Thr  105 Ile details homologous mutations 2 2 2 D D ?
TMD1,TH2 p.Leu  107 Pro details homologous mutations 1 1 2 D D ?
TMD1,TH2 p.Ser  108 Trp details homologous mutations 4 9 10 D D ?
TMD1,TH2 p.Ser  108 * details homologous mutations 2 7 7 - - ?
TMD1,TH2 p.Ser  108 Leu details homologous mutations 4 11 16 D D ?
TMD1,TH2 p.Arg  113 Pro details homologous mutations 2 6 10 D N ?
TMD1,TH2 p.Arg  113 Cys details homologous mutations 1 1 1 D N ?
TMD1,CL1 p.Leu  114 Pro details homologous mutations 1 3 4 D D ?
TMD1,CL1 p.Gly  116 Arg details homologous mutations 4 31 43 D D D
TMD1,CL1 p.Arg  120 Pro details homologous mutations 1 4 4 D D ?
TMD1,CL1 p.Val  123 Ile details homologous mutations 1 9 12 D N ?
TMD1,CL1 p.Gln  133 * details homologous mutations 1 1 1 - - ?
TMD1,TH3 p.Trp  137 * details homologous mutations 3 3 4 - - ?
TMD1,TH3 p.Ala  141 Thr details homologous mutations 6 11 11 D D D
TMD1,TH3 p.Pro  143 Ser details homologous mutations 3 8 9 D D ?
TMD1,TH3 p.Pro  143 Leu details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Pro  143 His details homologous mutations 1 1 3 D D ?
TMD1,TH3 p.Pro  143 Ala details homologous mutations 1 1 3 D D ?
TMD1,TH3 p.Asn  148 Ser details homologous mutations 6 14 15 D D D
TMD1,TH3 p.Asn  148 Tyr details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Asn  148 Asp details homologous mutations 2 5 5 D D ?
TMD1,TH3 p.Ser  149 Asn details homologous mutations 5 6 7 D D ?
TMD1,TH3 p.Arg  152 Cys details homologous mutations 6 19 19 D D ?
TMD1,TH3 p.Arg  152 Leu details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Arg  152 Ser details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Arg  152 Pro details homologous mutations 2 2 2 D D ?
TMD1,EL2 p.Leu  154 Pro details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Leu  158 Pro details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Leu  160 Pro details homologous mutations 2 12 12 D D ?
TMD1,EL2 p.Ser  161 Pro details homologous mutations 1 1 1 D N ?
TMD1,EL2 p.Arg  163 Pro details homologous mutations 2 5 5 D D ?
TMD1,EL2 p.Arg  163 His details homologous mutations 2 3 3 D D ?
TMD1,EL2 p.Arg  163 Leu details homologous mutations 1 6 6 D D ?
TMD1,EL2 p.Tyr  174 Cys details homologous mutations 10 42 50 D D D
TMD1,EL2 p.Tyr  174 Ser details homologous mutations 4 17 20 D D D
TMD1,EL2 p.Tyr  174 Asp details homologous mutations 2 5 5 D D D
TMD1,EL2 p.Tyr  174 His details homologous mutations 1 1 1 D D D
TMD1,EL2 p.Gln  177 * details homologous mutations 3 3 5 - - ?
TMD1,EL2 p.Gln  178 Arg details homologous mutations 1 4 4 D D ?
TMD1,EL2 p.Gln  178 Glu details homologous mutations 2 4 4 D N ?
TMD1,EL2 p.Gln  178 * details homologous mutations 1 2 2 - - ?
TMD1,EL2 p.Tyr  181 Cys details homologous mutations 3 8 8 D D ?
TMD1,EL2 p.Arg  182 Pro details homologous mutations 3 4 4 D D ?
TMD1,EL2 p.Asp  194 His details homologous mutations 4 46 52 D D ?
TMD1,EL2 p.Gln  195 * details homologous mutations 1 1 1 - - ?
TMD1,EL2 p.Thr  198 Lys details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Thr  198 Met details homologous mutations 1 2 2 D D ?
TMD1,EL2 p.Glu  199 Lys details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Asp  200 Val details homologous mutations 1 2 2 D D ?
TMD1,EL2 p.Asp  200 Asn details homologous mutations 2 2 3 D D ?
TMD1,EL2 p.His  210 Gln details homologous mutations 1 2 2 D D ?
TMD1,EL2 p.Tyr  212 * details homologous mutations 1 1 1 - - ?
TMD1,EL2 p.Ser  213 Cys details homologous mutations 2 6 6 D D ?
TMD1,EL2 p.Asn  214 Asp details homologous mutations 2 2 3 D N ?
TMD1,EL2 p.Lys  217 Glu details homologous mutations 5 16 18 D D ?
TMD1,EL2 p.Pro  218 Thr details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Pro  218 Ser details homologous mutations 1 1 3 D D ?
TMD1,EL2 p.Leu  220 Pro details homologous mutations 6 8 12 D D ?
TMD1,EL2 p.Asp  221 Gly details homologous mutations 1 8 9 D D ?
TMD1,EL2 p.Val  222 Leu details homologous mutations 1 1 3 N N ?
TMD1,EL2 p.Ala  223 Asp details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Val  224 Glu details homologous mutations 1 1 1 D D ?
TMD1,EL2 p.Leu  229 Pro details homologous mutations 2 7 8 D D ?
TMD1,EL2 p.Arg  236 His details homologous mutations 1 3 3 D D
TMD1,TH4 p.Trp  242 * details homologous mutations 2 3 3 - - ?
TMD1,TH4 p.Ala  245 Asp details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Gly  248 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Thr  254 Pro details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Thr  254 Met details homologous mutations 3 3 3 D D ?
TMD1,CL2 p.Arg  259 Trp details homologous mutations 3 13 14 D D ?
TMD1,CL2 p.Pro  263 Leu details homologous mutations 1 3 3 D D ?
TMD1,CL2 p.Gly  266 Arg details homologous mutations 12 30 45 D D D
TMD1,CL2 p.Gly  266 Gln details homologous mutations 1 1 1 D D D
TMD1,CL2 p.Gly  266 Ala details homologous mutations 1 1 1 D D D
TMD1,CL2 p.Glu  271 Lys details homologous mutations 2 4 5 D D ?
TMD1,CL2 p.Arg  274 Trp details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Lys  276 Glu details homologous mutations 3 5 5 D D ?
TMD1,CL2 p.Gly  277 Arg details homologous mutations 3 11 11 D D ?
TMD1,CL2 p.Gly  277 Trp details homologous mutations 2 3 3 D D ?
TMD1,CL2 p.Leu  279 Val details homologous mutations 2 3 3 D D ?
TMD1,CL2 p.Leu  279 Pro details homologous mutations 1 2 3 D D ?
TMD1,CL2 p.Arg  280 Cys details homologous mutations 1 1 1 D D D
TMD1,CL2 p.Arg  280 Leu details homologous mutations 1 3 3 D D D
TMD1,CL2 p.Tyr  281 His details homologous mutations 1 1 1 N N ?
TMD1,CL2 p.His  283 Arg details homologous mutations 2 8 8 D D ?
TMD1,CL2 p.His  283 Asp details homologous mutations 2 3 3 D D ?
TMD1,CL2 p.His  283 Tyr details homologous mutations 1 2 2 D D ?
TMD1,CL2 p.Arg  285 Pro details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Ser  290 * details homologous mutations 1 1 1 - - ?
TMD1,CL2 p.Ser  290 Trp details homologous mutations 2 3 3 D D ?
TMD1,CL2 p.Glu  291 Lys details homologous mutations 2 5 5 D D D
TMD1,CL2 p.Glu  291 Asp details homologous mutations 2 3 3 D D D
TMD1,CL2 p.Glu  291 Leu details homologous mutations 1 2 2 D D D
TMD1,CL2 p.Glu  291 Ala details homologous mutations 1 1 1 D D D
TMD1,CL2 p.Ala  294 Thr details homologous mutations 2 4 4 D D ?
TMD1,CL2 p.Ala  294 Val details homologous mutations 1 2 2 D D ?
TMD1,CL2 p.Tyr  296 Cys details homologous mutations 7 9 13 D D D
TMD1,CL2 p.Gly  298 Asp details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Gly  298 Arg details homologous mutations 1 4 4 D D ?
TMD1,CL2 p.Glu  302 Lys details homologous mutations 1 8 8 D D ?
TMD1,CL2 p.Gln  307 * details homologous mutations 2 2 4 - - ?
TMD1,CL2 p.Leu  313 Pro details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Ala  314 Pro details homologous mutations 1 3 3 N D ?
TMD1,CL2 p.Ser  315 * details homologous mutations 1 1 1 - - ?
TMD1,CL2 p.Leu  322 Pro details homologous mutations 3 8 9 D N ?
TMD1,CL2 p.Leu  325 Pro details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Trp  326 Ala details homologous mutations 1 2 2 D D ?
TMD1,CL2 p.Lys  336 Met details homologous mutations 1 1 1 D D ?
TMD1,TH5 p.Trp  339 Cys details homologous mutations 1 6 6 D D ?
TMD1,TH5 p.Ala  341 Asp details homologous mutations 1 11 11 D D ?
TMD1,TH5 p.Ser  342 Pro details homologous mutations 3 20 28 D D ?
TMD1,TH5 p.Gly  343 Asp details homologous mutations 2 2 2 D D ?
TMD1,TH5 p.Gly  343 Ser details homologous mutations 1 3 3 D D ?
TMD1,TH5 p.Gly  343 Val details homologous mutations 4 14 14 D D ?
TMD1,EL3 p.Ser  358 * details homologous mutations 1 2 2 - - ?
TMD1,EL3 p.Glu  376 Gln details homologous mutations 1 7 7 N N ?
TMD1,EL3 p.Ser  379 Arg details homologous mutations 1 1 1 D D ?
TMD1,EL3 p.Arg  389 His details homologous mutations 15 32 36 D D D
TMD1,EL3 p.Arg  389 Gly details homologous mutations 2 2 2 D D D
TMD1,EL3 p.Arg  389 Cys details homologous mutations 2 2 7 D D D
TMD1,EL3 p.Leu  391 Pro details homologous mutations 2 6 8 D D ?
TMD1,EL3 p.Ala  396 Thr details homologous mutations 1 2 2 D D ?
TMD1,EL3 p.Arg  401 Gln details homologous mutations 15 53 57 D D D
TMD1,EL3 p.Arg  401 Trp details homologous mutations 5 7 8 D D D
TMD1,EL3 p.Arg  401 Gly details homologous mutations 1 3 3 D D D
TMD1,EL3 p.Ser  404 * details homologous mutations 1 1 1 - - ?
TMD1,EL3 p.Lys  407 * details homologous mutations 1 1 1 - - ?
TMD1,TH6 p.Arg  418 Trp details homologous mutations 4 7 11 D D D
TMD1,TH6 p.His  420 Pro details homologous mutations 1 11 11 D D ?
CL3 p.Gln  430 * details homologous mutations 1 1 1 - - D
CL3 p.Lys  435 Met details homologous mutations 1 1 1 N N ?
CL3 p.Arg  452 Glu details homologous mutations 1 1 1 N N ?
CL3 p.Glu  458 Ala details homologous mutations 1 1 1 N N ?
CL3 p.Arg  464 * details homologous mutations 5 9 10 - - D
CL3,NBD1 p.Ile  474 Thr details homologous mutations 1 1 1 D N ?
CL3,NBD1 p.Cys  476 * details homologous mutations 1 2 2 - - ?
CL3,NBD1 p.Glu  477 * details homologous mutations 1 3 3 - - D
CL3,NBD1 p.Pro  480 Thr details homologous mutations 1 1 3 D D ?
CL3,NBD1 p.Ile  481 Phe details homologous mutations 1 3 3 D D ?
CL3,NBD1 p.Pro  484 Arg details homologous mutations 6 16 16 D D D
CL3,NBD1 p.Glu  487 Lys details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Met  501 Leu details homologous mutations 1 2 2 N D ?
CL3,NBD1 p.Leu  503 Pro details homologous mutations 1 3 3 D D ?
CL3,NBD1,WA1 p.Gly  507 Asp details homologous mutations 1 4 6 D D ?
CL3,NBD1,WA1 p.Gly  507 Val details homologous mutations 1 1 2 D D ?
CL3,NBD1,WA1 p.Pro  508 Leu details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Asn  509 Ile details homologous mutations 1 2 2 D D ?
CL3,NBD1,WA1 p.Gly  510 Asp details homologous mutations 1 4 4 D D ?
CL3,NBD1,WA1 p.Gly  510 Ser details homologous mutations 2 3 3 D D ?
CL3,NBD1,WA1 p.Cys  511 * details homologous mutations 1 1 1 - - ?
CL3,NBD1,WA1 p.Gly  512 Cys details homologous mutations 1 4 4 D D ?
CL3,NBD1,WA1 p.Gly  512 Ser details homologous mutations 22 56 57 D D ?
CL3,NBD1,WA1 p.Gly  512 Asp details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Lys  513 Gln details homologous mutations 1 14 14 D D ?
CL3,NBD1,WA1 p.Lys  513 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Ser  514 Asn details homologous mutations 1 13 15 D D ?
CL3,NBD1,WA1 p.Ser  514 Ile details homologous mutations 1 1 1 D D ?
CL3,NBD1,WA1 p.Ser  514 Arg details homologous mutations 2 4 4 D D ?
CL3,NBD1,WA1 p.Ser  514 His details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Ser  515 Phe details homologous mutations 4 17 20 D D D
CL3,NBD1 p.Ser  515 Tyr details homologous mutations 1 6 6 D D ?
CL3,NBD1 p.Leu  516 Pro details homologous mutations 1 4 4 D D ?
CL3,NBD1 p.Arg  518 Trp details homologous mutations 8 29 33 D D D
CL3,NBD1 p.Arg  518 Gln details homologous mutations 15 37 46 D D D
CL3,NBD1 p.Arg  518 Gly details homologous mutations 1 2 2 D D D
CL3,NBD1 p.Gly  522 Trp details homologous mutations 2 6 6 D D ?
CL3,NBD1 p.Leu  523 Phe details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Trp  524 * details homologous mutations 1 2 2 - - ?
CL3,NBD1 p.Tyr  527 * details homologous mutations 1 1 1 - - ?
CL3,NBD1 p.Lys  533 Glu details homologous mutations 1 2 4 D D ?
CL3,NBD1 p.Pro  534 Leu details homologous mutations 1 4 6 D D ?
CL3,NBD1 p.Pro  534 Arg details homologous mutations 2 5 5 D D ?
CL3,NBD1 p.Phe  540 Ser details homologous mutations 3 4 5 D D ?
CL3,NBD1 p.Phe  540 Cys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Pro  543 Leu details homologous mutations 6 13 18 D D ?
CL3,NBD1 p.Gln  544 Arg details homologous mutations 6 31 43 D D ?
CL3,NBD1 p.Arg  545 Trp details homologous mutations 1 3 4 D D ?
CL3,NBD1 p.Tyr  547 Cys details homologous mutations 1 11 11 D D ?
CL3,NBD1 p.Arg  554 His details homologous mutations 12 26 31 D D D
CL3,NBD1 p.Gln  556 Arg details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Ile  558 Thr details homologous mutations 1 8 8 D D ?
CL3,NBD1 p.Tyr  559 His details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Tyr  559 Cys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Pro  560 Leu details homologous mutations 15 53 67 D D D
CL3,NBD1 p.Pro  560 Ser details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Asp  561 Val details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Met  566 Lys details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Gln  567 * details homologous mutations 1 2 2 - - ?
CL3,NBD1 p.Ser  572 * details homologous mutations 1 2 2 - - ?
CL3,NBD1 p.Gln  574 * details homologous mutations 1 3 4 - - ?
CL3,NBD1 p.Leu  576 Pro details homologous mutations 2 5 5 D D ?
CL3,NBD1 p.Leu  585 Pro details homologous mutations 1 4 6 D D ?
CL3,NBD1 p.Ile  588 His details homologous mutations 1 3 3 D D ?
CL3,NBD1 p.Arg  591 Pro details homologous mutations 2 2 2 D D D
CL3,NBD1 p.Arg  591 Gln details homologous mutations 10 30 31 D D D
CL3,NBD1 p.Arg  591 Trp details homologous mutations 4 13 15 D D D
CL3,NBD1 p.Trp  595 * details homologous mutations 3 4 6 - - ?
CL3,NBD1 p.Trp  601 * details homologous mutations 1 1 2 - - D
CL3,NBD1 p.Lys  602 * details homologous mutations 1 3 3 - - ?
CL3,NBD1,SIG1 p.Leu  605 Gln details homologous mutations 1 4 4 D D ?
CL3,NBD1,SIG1 p.Ser  606 Pro details homologous mutations 6 42 57 D D ?
CL3,NBD1,SIG1 p.Ser  606 Leu details homologous mutations 19 85 105 D D D
CL3,NBD1,SIG1 p.Ser  606 His details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Gly  607 Asp details homologous mutations 1 3 3 D D ?
CL3,NBD1,SIG1 p.Gly  608 Asp details homologous mutations 1 1 1 D D ?
CL3,NBD1,SIG1 p.Gly  608 Ser details homologous mutations 2 2 2 D D ?
CL3,NBD1,SIG1 p.Glu  609 Lys details homologous mutations 8 19 21 D D D
CL3,NBD1,SIG1 p.Glu  609 Gly details homologous mutations 3 10 10 D D D
CL3,NBD1,SIG1 p.Ala  616 Asp details homologous mutations 2 3 3 D D ?
CL3,NBD1,SIG1 p.Ala  616 Thr details homologous mutations 2 9 14 D D ?
CL3,NBD1,SIG1 p.Ala  616 Val details homologous mutations 2 2 2 D D ?
CL3,NBD1,SIG1 p.Arg  617 Cys details homologous mutations 9 16 18 D D D
CL3,NBD1,SIG1 p.Arg  617 His details homologous mutations 21 71 85 D D D
CL3,NBD1,SIG1 p.Arg  617 Leu details homologous mutations 2 3 3 D D D
CL3,NBD1,SIG1 p.Arg  617 Ser details homologous mutations 1 11 12 D D D
CL3,NBD1,SIG1 p.Arg  617 Gly details homologous mutations 5 14 20 D D D
CL3,NBD1 p.Tyr  620 His details homologous mutations 1 15 20 D D ?
CL3,NBD1 p.Pro  623 Leu details homologous mutations 1 3 3 D D ?
CL3,NBD1,WB1 p.Ala  626 Thr details homologous mutations 10 18 23 D D ?
CL3,NBD1,WB1 p.Ala  626 Asp details homologous mutations 1 1 1 D D ?
CL3,NBD1,WB1 p.Leu  628 Glu details homologous mutations 1 3 3 D D ?
CL3,NBD1,WB1 p.Asp  629 His details homologous mutations 2 3 3 D D ?
CL3,NBD1 p.Glu  630 Gly details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Glu  630 Lys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Cys  631 Tyr details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Thr  632 Ile details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Thr  632 Pro details homologous mutations 3 3 3 D D ?
CL3,NBD1 p.Ser  633 Arg details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Ser  633 Ile details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Val  635 Met details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Glu  640 Lys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gln  645 * details homologous mutations 1 2 2 - - ?
CL3,NBD1 p.Leu  654 Pro details homologous mutations 4 7 8 D D ?
CL3,NBD1 p.Leu  655 Pro details homologous mutations 1 3 4 D D ?
CL3,NBD1 p.Ser  656 Phe details homologous mutations 1 2 4 D D ?
CL3,NBD1 p.Thr  658 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  660 Trp details homologous mutations 18 44 51 D D ?
CL3,NBD1 p.Arg  660 Gln details homologous mutations 2 15 16 D D ?
CL3,NBD1 p.Arg  660 Pro details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Leu  663 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Trp  664 * details homologous mutations 1 1 1 - - ?
CL3,NBD1 p.Tyr  666 Ser details homologous mutations 1 1 2 D D ?
CL3,NBD1 p.His  667 Asp details homologous mutations 6 52 72 D D ?
CL3,NBD1 p.His  667 Asn details homologous mutations 2 3 4 D D ?
CL3,NBD1 p.His  667 Leu details homologous mutations 1 5 6 D D ?
CL3,NBD1 p.Thr  668 Ile details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.His  669 Tyr details homologous mutations 1 1 2 N D ?
CL3,NBD1 p.His  669 Arg details homologous mutations 3 15 17 N D ?
CL3,NBD1 p.Gln  672 * details homologous mutations 2 4 4 - - ?
CL3,NBD1 p.Phe  673 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Gly  677 Asp details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Trp  679 Arg details homologous mutations 1 7 7 D D ?
CL3,NBD1 p.Leu  684 Pro details homologous mutations 1 6 6 D D ?
CL3,NBD1 p.Thr  693 Met details homologous mutations 2 7 7 D N ?