Mutations in ABCC8

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Met    1 Ala details homologous mutations 1 1 1 N N ?
ELa p.Leu    3 Pro details homologous mutations 1 1 1 N N ?
ELa p.Ala    4 Val details homologous mutations 1 1 1 N N ?
ELa p.Cys    6 Ser details homologous mutations 1 1 1 D D ?
ELa p.Asn   10 Gln details homologous mutations 3 69 94 N D ?
ELa p.His   11 Ala details homologous mutations 1 2 2 N N ?
ELa p.His   11 Phe details homologous mutations 1 8 11 N N ?
ELa p.Ser   12 Asp details homologous mutations 12 12 14 N N ?
ELa p.Ser   12 * details homologous mutations 1 2 2 - - ?
ELa p.Asp   18 Ala details homologous mutations 1 2 2 N N ?
ELa p.Asp   18 Gly details homologous mutations 1 1 1 N N ?
ELa p.Gly   20 Ser details homologous mutations 1 1 1 N N ?
ELa p.Val   21 Asp details homologous mutations 3 10 12 D D ?
ELa p.Asn   23 His details homologous mutations 1 12 13 N N ?
ELa p.Asn   23 Lys details homologous mutations 1 1 1 D N ?
ELa p.Asn   24 Lys details homologous mutations 5 21 25 D D ?
ELa p.Cys   26 Ser details homologous mutations 3 9 10 D D ?
ELa p.Cys   26 Ala details homologous mutations 1 2 2 D D ?
ELa p.Phe   27 Ser details homologous mutations 9 124 149 D D ?
ELa p.Ala   30 Met details homologous mutations 1 1 1 D N ?
ELa p.Ala   30 Val details homologous mutations 1 20 25 N N ?
ELa p.Leu   31 Met details homologous mutations 1 2 2 N N ?
ELa p.Val   34 Leu details homologous mutations 1 21 24 N N ?
ELa p.Pro   35 Ser details homologous mutations 2 25 26 N D ?
ELa p.His   36 Arg details homologous mutations 1 1 1 N D ?
TMD0,THa p.Pro   45 Leu details homologous mutations 5 12 12 N N ?
TMD0,THa p.Phe   48 Lys details homologous mutations 1 30 35 D D ?
TMD0,THa p.Phe   48 Arg details homologous mutations 1 3 3 D D ?
TMD0,THa p.Ile   49 Phe details homologous mutations 1 2 3 N N ?
TMD0,THa p.Ile   49 Ser details homologous mutations 1 2 2 N D ?
TMD0,THa p.Ile   49 Gly details homologous mutations 1 5 7 N D ?
TMD0,THa p.Gly   50 Phe details homologous mutations 1 1 1 N N ?
TMD0,THa p.Gln   54 * details homologous mutations 3 16 17 - - ?
TMD0,CLa p.Ile   60 Gly details homologous mutations 1 35 46 D D ?
TMD0,CLa p.Pro   69 Arg details homologous mutations 1 1 1 D D ?
TMD0,CLa p.Pro   69 Leu details homologous mutations 1 9 9 N D ?
TMD0,CLa p.Gly   70 Glu details homologous mutations 2 12 17 D D ?
TMD0,CLa p.Gly   70 Ala details homologous mutations 1 1 1 D D ?
TMD0,CLa p.Gly   70 Arg details homologous mutations 1 1 1 D D ?
TMD0,CLa p.Asn   72 Ser details homologous mutations 5 32 39 N N ?
TMD0,CLa p.Asn   72 Ala details homologous mutations 1 1 1 N D ?
TMD0,CLa p.Arg   74 Trp details homologous mutations 10 135 153 D D ?
TMD0,CLa p.Arg   74 * details homologous mutations 1 23 26 - - ?
TMD0,CLa p.Arg   74 Lys details homologous mutations 1 12 15 N N ?
TMD0,CLa p.Arg   74 Asp details homologous mutations 1 4 5 D D ?
TMD0,CLa p.Arg   74 Ala details homologous mutations 1 1 1 N D ?
TMD0,CLa p.Arg   74 Tyr details homologous mutations 1 1 1 D D ?
TMD0,CLa p.Arg   74 Glu details homologous mutations 1 1 1 N D ?
TMD0,CLa p.Arg   74 Gln details homologous mutations 3 6 6 N D ?
TMD0,THb p.Val   84 Ile details homologous mutations 1 10 10 N N ?
TMD0,THb p.Val   86 Ala details homologous mutations 7 31 35 N N D
TMD0,THb p.Val   86 Gly details homologous mutations 4 7 7 N D ?
TMD0,THb p.Val   86 Arg details homologous mutations 1 2 2 D D ?
TMD0,THb p.Glu   88 Ala details homologous mutations 2 5 5 N N ?
TMD0,THb p.Glu   88 Lys details homologous mutations 1 1 1 D N ?
TMD0,THb p.Ile   89 Thr details homologous mutations 1 1 1 N D ?
TMD0,THb p.Ala   90 Val details homologous mutations 3 10 11 N N ?
TMD0,THb p.Gly   92 Asp details homologous mutations 1 1 1 D D ?
TMD0,THb p.Ile   93 Leu details homologous mutations 1 2 2 N N ?
TMD0,THb p.Asp   96 Asn details homologous mutations 1 2 2 N N ?
TMD0,THb p.Asp   96 Ala details homologous mutations 1 4 4 N D ?
TMD0,THb p.Asp   96 Glu details homologous mutations 1 5 5 N N ?
TMD0,ELb p.Thr   99 Cys details homologous mutations 1 2 2 N D ?
TMD0,ELb p.Glu  100 Lys details homologous mutations 1 9 10 N N ?
TMD0,ELb p.Glu  100 * details homologous mutations 1 6 6 - - ?
TMD0,THc p.His  105 Pro details homologous mutations 1 3 3 D D ?
TMD0,THc p.Gly  111 Arg details homologous mutations 6 24 24 D N ?
TMD0,THc p.Ala  113 Val details homologous mutations 2 3 4 D N ?
TMD0,THc p.Ala  116 Pro details homologous mutations 23 384 478 N D ?
TMD0,THc p.Val  118 Ile details homologous mutations 1 1 1 N N ?
TMD0,THc p.Val  118 Cys details homologous mutations 1 3 3 N N ?
TMD0,THc p.Ser  120 Ala details homologous mutations 1 1 1 N N ?
TMD0,CLb p.His  125 Gln details homologous mutations 3 18 18 D D ?
TMD0,CLb p.Glu  128 Lys details homologous mutations 11 249 320 D D ?
TMD0,CLb p.Glu  128 Trp details homologous mutations 2 22 25 D D ?
TMD0,CLb p.Glu  128 * details homologous mutations 1 19 22 - - ?
TMD0,CLb p.Glu  128 Cys details homologous mutations 2 3 3 D D ?
TMD0,CLb p.Glu  128 Arg details homologous mutations 1 1 1 D D ?
TMD0,CLb p.Glu  128 Asp details homologous mutations 1 1 1 D N ?
TMD0,CLb p.Phe  132 Leu details homologous mutations 21 196 257 N N D
TMD0,CLb p.Phe  132 Val details homologous mutations 5 24 25 N N D
TMD0,CLb p.Leu  135 Pro details homologous mutations 3 9 9 D D D
TMD0,CLb p.Leu  135 Val details homologous mutations 1 2 2 N N ?
TMD0,THd p.Leu  136 Ala details homologous mutations 1 1 1 N N ?
TMD0,THd p.Trp  143 * details homologous mutations 1 1 1 - - ?
TMD0,THd p.Thr  144 Ile details homologous mutations 1 1 1 N N ?
TMD0,THd p.Ala  146 Val details homologous mutations 1 7 7 N N ?
TMD0,THd p.Ile  152 Leu details homologous mutations 6 10 11 N N ?
TMD0,ELc p.His  160 Ala details homologous mutations 1 2 2 N N ?
TMD0,ELc p.Ala  161 Cys details homologous mutations 2 3 3 N N ?
TMD0,ELc p.Ile  162 Cys details homologous mutations 1 1 1 N N ?
TMD0,ELc p.Ser  165 Leu details homologous mutations 1 3 5 N D ?
TMD0,ELc p.Arg  168 Cys details homologous mutations 2 5 6 N D ?
TMD0,ELc p.Phe  169 Val details homologous mutations 1 1 1 N D ?
TMD0,ELc p.Cys  170 Ala details homologous mutations 1 2 2 N D ?
TMD0,ELc p.Cys  170 * details homologous mutations 1 1 1 - - ?
TMD0,THe p.Val  176 Met details homologous mutations 1 1 1 D N ?
TMD0,THe p.Tyr  179 Phe details homologous mutations 2 5 5 D N ?
TMD0,THe p.Tyr  179 Trp details homologous mutations 1 8 8 D D ?
TMD0,THe p.Tyr  179 Ala details homologous mutations 1 3 3 D D ?
TMD0,THe p.Tyr  179 Cys details homologous mutations 2 3 3 D D ?
TMD0,THe p.Tyr  179 * details homologous mutations 1 1 1 - - ?
TMD0,THe p.Gly  180 Arg details homologous mutations 1 1 1 D D ?
TMD0,THe p.Leu  183 Ala details homologous mutations 1 1 1 N N ?
TMD0,THe p.Leu  183 Pro details homologous mutations 1 1 1 N D ?
TMD0,THe p.Val  187 Asp details homologous mutations 32 407 487 D D ?
TMD0,THe p.Val  187 Pro details homologous mutations 1 1 1 D D ?
TMD0,THe p.Asn  188 Ser details homologous mutations 11 33 35 N N ?
TMD0,THe p.Arg  191 Gln details homologous mutations 1 1 1 N N ?
CL0 p.Arg  193 Gln details homologous mutations 1 2 2 N N ?
CL0 p.Tyr  195 Glu details homologous mutations 1 5 6 D D ?
CL0 p.Tyr  195 * details homologous mutations 1 1 1 - - ?
CL0 p.Lys  199 Glu details homologous mutations 1 2 2 N N ?
CL0 p.Thr  200 Ala details homologous mutations 1 1 1 N N ?
CL0 p.Pro  201 Ser details homologous mutations 1 3 3 N D ?
CL0 p.Arg  202 Glu details homologous mutations 1 2 2 N N ?
CL0 p.Glu  203 Ala details homologous mutations 1 1 1 N N ?
CL0 p.Glu  203 Lys details homologous mutations 2 61 72 N N ?
CL0 p.Glu  203 Cys details homologous mutations 2 24 26 N D ?
CL0 p.Lys  205 Glu details homologous mutations 1 4 5 N N ?
CL0 p.Pro  206 Leu details homologous mutations 1 2 2 N D ?
CL0 p.Pro  207 Ser details homologous mutations 4 18 19 N D ?
CL0 p.Glu  208 Lys details homologous mutations 8 68 75 N N ?
CL0 p.Asp  209 Glu details homologous mutations 7 22 24 N N D
CL0 p.Asp  209 Asn details homologous mutations 1 2 2 N D ?
CL0 p.Leu  210 Trp details homologous mutations 3 5 5 N D ?
CL0 p.Leu  210 Tyr details homologous mutations 1 3 3 N D ?
CL0 p.Gln  211 Lys details homologous mutations 5 8 9 N N D
CL0 p.Asp  212 Ile details homologous mutations 5 22 22 N D ?
CL0 p.Asp  212 Asn details homologous mutations 3 12 12 N N ?
CL0 p.Leu  213 Arg details homologous mutations 9 52 53 N N ?
CL0 p.Leu  213 Pro details homologous mutations 1 4 7 N N ?
CL0 p.Gly  214 Arg details homologous mutations 1 11 15 N D ?
CL0 p.Val  215 Ile details homologous mutations 2 3 3 N N ?
CL0,L0 p.Phe  217 Leu details homologous mutations 1 1 1 N D ?
CL0,L0 p.Phe  221 Ala details homologous mutations 1 4 4 N D ?
CL0,L0 p.Val  222 Met details homologous mutations 1 9 14 D N ?
CL0,L0 p.Leu  225 Pro details homologous mutations 10 107 165 D N D
CL0,L0 p.Gly  228 Asp details homologous mutations 2 6 6 N N ?
CL0,L0 p.Thr  229 Ile details homologous mutations 6 27 35 N D ?
CL0,L0 p.Tyr  230 Ala details homologous mutations 6 75 105 D D ?
CL0,L0 p.Trp  231 Ala details homologous mutations 1 1 1 D D ?
CL0,L0 p.Trp  231 Arg details homologous mutations 1 8 8 D D ?
CL0,L0 p.Trp  232 Ala details homologous mutations 2 15 17 D D ?
CL0,L0 p.Trp  232 Gly details homologous mutations 1 3 3 D D ?
CL0,L0 p.Met  233 Thr details homologous mutations 1 1 1 D D ?
CL0,L0 p.Met  233 Arg details homologous mutations 1 3 3 D D ?
CL0,L0 p.Lys  242 Glu details homologous mutations 1 5 5 D D ?
CL0,L0 p.Lys  242 Gln details homologous mutations 1 1 1 D D ?
CL0,L0 p.Arg  248 Trp details homologous mutations 2 2 3 D D ?
CL0,L0 p.Arg  248 Cys details homologous mutations 2 3 7 N D ?
CL0,L0 p.Arg  248 * details homologous mutations 2 5 6 - - ?
CL0,L0 p.Arg  248 Gln details homologous mutations 1 5 6 N N ?
CL0,L0 p.Gly  251 Asp details homologous mutations 1 1 1 N D ?
CL0,L0 p.Gly  251 Val details homologous mutations 1 1 1 N D ?
CL0,L0 p.Pro  254 Leu details homologous mutations 1 2 2 N D ?
CL0,L0 p.Ala  259 Glu details homologous mutations 1 1 1 D D ?
CL0,L0 p.Ala  259 Cys details homologous mutations 1 1 1 N N ?
CL0,L0 p.Tyr  263 Asp details homologous mutations 4 9 9 D D ?
CL0,L0 p.Leu  266 Met details homologous mutations 2 4 4 N N ?
CL0,L0 p.Cys  267 * details homologous mutations 1 6 6 - - ?
CL0,L0 p.Glu  268 Lys details homologous mutations 1 1 1 N N ?
CL0,L0 p.Ala  269 Asp details homologous mutations 3 18 20 N D ?
CL0 p.Gln  279 Glu details homologous mutations 1 1 1 N N ?
CL0 p.Gly  280 Leu details homologous mutations 1 1 1 N N ?
CL0 p.Ala  284 Lys details homologous mutations 1 1 1 N N ?
CL0 p.Arg  285 Gln details homologous mutations 1 2 2 N N ?
CL0 p.Ala  286 Gly details homologous mutations 1 5 7 N N ?
CL0 p.Ala  286 Cys details homologous mutations 1 2 3 N N ?
CL0 p.Trp  288 * details homologous mutations 1 3 3 - - ?
CL0 p.Ala  294 Thr details homologous mutations 1 1 1 N N ?
CL0 p.Gly  296 Arg details homologous mutations 1 20 22 N D D
TMD1,TH1 p.Arg  306 His details homologous mutations 3 9 11 N D ?
TMD1,TH1 p.Ala  309 Gly details homologous mutations 1 1 1 N N ?
TMD1,TH1 p.Asp  310 Asn details homologous mutations 3 8 9 D D ?
TMD1,EL1 p.Val  324 Met details homologous mutations 9 89 104 D N ?
TMD1,EL1 p.His  326 Ala details homologous mutations 1 4 7 N D ?
TMD1,EL1 p.Gly  328 Arg details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Val  333 Gly details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Lys  337 Cys details homologous mutations 1 2 2 N N ?
TMD1,EL1 p.Thr  338 Ala details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Val  343 Gly details homologous mutations 1 16 18 N N ?
TMD1,TH2 p.Ala  355 Thr details homologous mutations 2 12 13 N N ?
TMD1,TH2 p.Tyr  356 Cys details homologous mutations 5 41 49 D D ?
TMD1,TH2 p.Ala  365 Glu details homologous mutations 2 29 31 N D ?
TMD1,TH2 p.Leu  368 Ala details homologous mutations 1 1 1 N D ?
TMD1,TH2 p.Arg  370 Ser details homologous mutations 4 25 52 N N ?
TMD1,TH2 p.Arg  370 Gly details homologous mutations 1 1 1 D D ?
TMD1,CL1 p.Glu  382 Lys details homologous mutations 4 8 9 D N ?
TMD1,CL1 p.Arg  388 Cys details homologous mutations 1 2 2 D D ?
TMD1,CL1 p.Ala  390 Glu details homologous mutations 1 2 2 D D ?
TMD1,CL1 p.His  401 Tyr details homologous mutations 1 2 2 N N ?
TMD1,CL1 p.Ser  405 Asn details homologous mutations 1 8 8 N N ?
TMD1,CL1 p.Asn  406 Asp details homologous mutations 1 3 3 D N ?
TMD1,CL1 p.Ser  408 Glu details homologous mutations 1 2 2 N D ?
TMD1,CL1 p.Cys  418 Arg details homologous mutations 2 10 10 D N ?
TMD1,CL1 p.Cys  418 Trp details homologous mutations 2 2 2 D D ?
TMD1,CL1 p.Cys  418 Ala details homologous mutations 1 6 6 D N ?
TMD1,CL1 p.Asn  426 Ser details homologous mutations 1 1 1 N N ?
TMD1,CL1 p.Met  429 * details homologous mutations 1 2 3 - - ?
TMD1,CL1 p.Trp  430 * details homologous mutations 1 6 6 - - ?
TMD1,TH3 p.Cys  435 Arg details homologous mutations 7 19 21 D D ?
TMD1,TH3 p.Leu  438 Phe details homologous mutations 3 10 12 D D ?
TMD1,TH3 p.Pro  442 Ala details homologous mutations 1 1 1 D D ?
TMD1,TH3 p.Gln  444 Arg details homologous mutations 1 2 2 D D ?
TMD1,TH3 p.Gln  444 His details homologous mutations 1 1 1 D D ?
TMD1,TH3 p.Leu  451 Pro details homologous mutations 4 9 10 D D ?
TMD1,TH3 p.Tyr  454 Cys details homologous mutations 1 2 2 N N ?
TMD1,TH4 p.Val  458 Ala details homologous mutations 1 1 1 N N ?
TMD1,TH4 p.Ser  459 Arg details homologous mutations 1 4 4 D D ?
TMD1,TH4 p.Ser  459 Phe details homologous mutations 1 1 1 D D ?
TMD1,TH4 p.Ile  462 Val details homologous mutations 1 8 8 N N ?
TMD1,TH4 p.Gln  474 Arg details homologous mutations 2 6 6 D D ?
TMD1,CL2 p.Ala  478 Asp details homologous mutations 2 4 5 D D ?
TMD1,CL2 p.Ala  478 Pro details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Ala  478 Val details homologous mutations 1 1 2 D D ?
TMD1,CL2 p.Gln  485 Arg details homologous mutations 1 12 12 D D ?
TMD1,CL2 p.Gln  485 His details homologous mutations 2 18 24 D D ?
TMD1,CL2 p.Arg  486 Ala details homologous mutations 1 5 5 D D ?
TMD1,CL2 p.Glu  490 * details homologous mutations 1 3 3 - - ?
TMD1,CL2 p.Arg  495 Gln details homologous mutations 5 17 20 D D ?
TMD1,CL2 p.Glu  501 Lys details homologous mutations 4 10 12 D D ?
TMD1,CL2 p.Leu  503 Pro details homologous mutations 5 14 16 D D ?
TMD1,CL2 p.Arg  504 Cys details homologous mutations 1 1 1 N D ?
TMD1,CL2 p.Gly  505 Arg details homologous mutations 1 2 2 D D ?
TMD1,CL2 p.Leu  511 Met details homologous mutations 1 2 2 N N ?
TMD1,CL2 p.Leu  511 Pro details homologous mutations 1 1 1 D D ?
TMD1,CL2 p.Tyr  512 * details homologous mutations 1 3 3 - - ?
TMD1,CL2 p.Arg  521 Gln details homologous mutations 1 1 1 N N
TMD1,CL2 p.Arg  521 Pro details homologous mutations 1 1 1 D N ?
TMD1,CL2 p.Arg  526 Cys details homologous mutations 1 9 9 D D ?
TMD1,CL2 p.Ser  532 Gly details homologous mutations 1 1 1 N N ?
TMD1,CL2 p.Leu  533 Pro details homologous mutations 1 3 3 D D ?
TMD1,CL2 p.Phe  536 Leu details homologous mutations 1 1 1 N D D
TMD1,TH5 p.Pro  551 Arg details homologous mutations 1 2 2 D D ?
TMD1,TH5 p.Ala  553 Gly details homologous mutations 1 1 1 N N ?
TMD1,TH5 p.Val  560 Gly details homologous mutations 1 3 3 N N ?
TMD1,TH5 p.Val  560 Met details homologous mutations 1 3 3 D N N
TMD1,EL3 p.Gly  561 Ser details homologous mutations 1 1 1 N N ?
TMD1,EL3 p.Phe  565 Ser details homologous mutations 1 1 1 N D ?
TMD1,EL3 p.Lys  567 Cys details homologous mutations 1 2 2 D N ?
TMD1,EL3 p.Glu  568 Lys details homologous mutations 1 1 1 D N ?
TMD1,EL3 p.Ser  574 Gly details homologous mutations 1 1 3 N N ?
TMD1,TH6 p.Leu  580 Phe details homologous mutations 1 2 2 D D ?
TMD1,TH6 p.Leu  582 Val details homologous mutations 7 49 57 N N ?
TMD1,TH6 p.Val  587 Gly details homologous mutations 1 1 1 N D ?
TMD1,TH6 p.Phe  591 Leu details homologous mutations 7 28 28 N D ?
CL3 p.Arg  598 * details homologous mutations 5 8 8 - - ?
CL3 p.Arg  598 * details homologous mutations 1 4 4 - - ?
CL3 p.Val  601 Ile details homologous mutations 1 2 2 N N ?
CL3 p.Val  607 Met details homologous mutations 2 3 3 N N ?
CL3 p.Arg  620 Cys details homologous mutations 1 5 5 D N ?
CL3 p.Ala  640 Val details homologous mutations 1 4 4 N N ?
CL3 p.Arg  657 Ala details homologous mutations 1 1 1 N N ?
CL3 p.Asp  673 Asn details homologous mutations 1 4 4 N N ?
CL3 p.Asn  676 Lys details homologous mutations 1 1 1 N D ?
CL3 p.Cys  677 Thr details homologous mutations 4 43 44 N N ?
CL3,NBD1 p.Gly  684 Glu details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Phe  686 Ser details homologous mutations 5 12 14 D D ?
CL3,NBD1 p.Trp  688 Arg details homologous mutations 1 8 10 D D ?
CL3,NBD1 p.Asp  691 Glu details homologous mutations 1 2 2 N N ?
CL3,NBD1,WA1 p.Val  715 Gly details homologous mutations 1 4 6 D D ?
CL3,NBD1,WA1 p.Val  715 Ala details homologous mutations 1 2 3 D D ?
CL3,NBD1,WA1 p.Gly  716 Asp details homologous mutations 2 7 7 D D ?
CL3,NBD1,WA1 p.Gly  716 Val details homologous mutations 9 19 25 D D D
CL3,NBD1,WA1 p.Gly  716 Ser details homologous mutations 1 2 2 D D ?
CL3,NBD1,WA1 p.Cys  717 * details homologous mutations 3 3 3 - - ?
CL3,NBD1,WA1 p.Cys  717 Ser details homologous mutations 2 30 46 N D ?
CL3,NBD1,WA1 p.Lys  719 Ala details homologous mutations 18 107 129 D D ?
CL3,NBD1,WA1 p.Lys  719 Arg details homologous mutations 9 15 15 D D ?
CL3,NBD1,WA1 p.Lys  719 Met details homologous mutations 12 33 36 D D ?
CL3,NBD1,WA1 p.Lys  719 Thr details homologous mutations 1 4 4 D D ?
CL3,NBD1,WA1 p.Lys  719 Pro details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Ala  726 Thr details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Ser  734 Ala details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Trp  739 Cys details homologous mutations 1 4 4 D D ?
CL3,NBD1 p.Ile  747 Val details homologous mutations 1 1 1 N N ?
CL3,NBD1 p.Gln  774 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Cys  805 Thr details homologous mutations 1 2 2 N D ?
CL3,NBD1 p.Gln  808 Lys details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Leu  814 Ala details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Pro  815 Ala details homologous mutations 1 29 38 D D ?
CL3,NBD1 p.Asp  818 Ala details homologous mutations 4 21 35 D D ?
CL3,NBD1 p.Asp  818 Gly details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Asp  818 Val details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  825 Trp details homologous mutations 1 14 15 D D ?
CL3,NBD1,SIG1 p.Ser  830 Arg details homologous mutations 2 4 5 D D ?
CL3,NBD1,SIG1 p.Arg  834 Trp details homologous mutations 1 3 3 D D ?
CL3,NBD1,SIG1 p.Arg  836 * details homologous mutations 2 9 13 - - D
CL3,NBD1,SIG1 p.Arg  836 * details homologous mutations 1 1 1 - - D
CL3,NBD1,SIG1 p.Arg  841 * details homologous mutations 1 7 7 - - ?
CL3,NBD1,SIG1 p.Arg  841 Gly details homologous mutations 1 1 1 D D ?
CL3,NBD1,WB1 p.Asp  853 Asn details homologous mutations 3 9 9 D D ?
CL3,NBD1 p.Asp  854 Asn details homologous mutations 9 27 27 D D ?
CL3,NBD1 p.Asp  854 Glu details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Asp  860 Ala details homologous mutations 2 9 10 D D ?
CL3,NBD1 p.Lys  880 Ala details homologous mutations 1 6 6 D D ?
CL3,NBD1 p.His  888 Ala details homologous mutations 1 2 2 D D ?
CL3,NBD1 p.Lys  889 Thr details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Trp  898 Cys details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Thr  906 Ala details homologous mutations 1 2 2 N N ?
CL3,NBD1 p.Gln  917 * details homologous mutations 1 6 6 - - ?
CL3 p.Arg  998 * details homologous mutations 1 2 2 - - ?
CL3 p.Cys 1000 * details homologous mutations 1 5 5 - - ?
CL3 p.Leu 1014 Ser details homologous mutations 2 8 8 N D ?
CL3 p.Leu 1014 Phe details homologous mutations 2 9 9 N N ?
TMD2,TH7 p.His 1023 Tyr details homologous mutations 6 37 46 D D ?
TMD2,TH7 p.His 1023 Arg details homologous mutations 1 8 9 D D ?
TMD2,EL4 p.Gln 1060 Pro details homologous mutations 1 1 1 D N ?
TMD2,CL4 p.Asn 1122 Asp details homologous mutations 2 10 11 D D ?
TMD2,CL4 p.Cys 1128 Thr details homologous mutations 1 1 1 N N ?
TMD2,CL4 p.Thr 1130 Ile details homologous mutations 1 1 1 N N ?
TMD2,CL4 p.Cys 1141 Ser details homologous mutations 1 1 1 N N ?
TMD2,TH9 p.Leu 1147 Arg details homologous mutations 1 1 1 D D ?
TMD2,TH9 p.Leu 1148 Arg details homologous mutations 2 4 4 D D ?
TMD2,TH10 p.Ala 1166 Cys details homologous mutations 1 1 1 N N ?
TMD2,TH10 p.Cys 1174 Phe details homologous mutations 3 7 8 N N D
TMD2,TH10 p.Gln 1178 Arg details homologous mutations 4 40 42 D D ?
TMD2,CL5 p.Arg 1182 Gln details homologous mutations 6 36 38 D N ?
TMD2,CL5 p.Ala 1184 Glu details homologous mutations 1 1 1 D D ?
TMD2,CL5 p.Ser 1185 Ala details homologous mutations 2 5 6 N N ?
TMD2,CL5 p.Gln 1190 Glu details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Asp 1193 Val details homologous mutations 2 6 6 D D ?
TMD2,CL5 p.Gln 1196 * details homologous mutations 1 4 4 - - ?
TMD2,CL5 p.Pro 1198 Leu details homologous mutations 1 1 1 D D ?
TMD2,CL5 p.Ser 1201 Cys details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Ala 1204 Ser details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Leu 1210 Arg details homologous mutations 1 2 2 D D ?
TMD2,CL5 p.Arg 1217 Lys details homologous mutations 1 6 6 N N ?
TMD2,CL5 p.Tyr 1218 His details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Gln 1223 Lys details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Leu 1226 Met details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Tyr 1229 Leu details homologous mutations 1 1 1 N N ?
TMD2,CL5 p.Ser 1237 Tyr details homologous mutations 15 138 151 N N ?
TMD2,TH11 p.Val 1249 Phe details homologous mutations 1 1 1 N D ?
TMD2,TH11 p.Arg 1250 * details homologous mutations 1 1 1 - - ?
TMD2,TH11 p.Ile 1254 Val details homologous mutations 1 2 2 N N ?
TMD2,TH11 p.Ala 1256 Thr details homologous mutations 1 1 1 N D ?
TMD2,TH11 p.Leu 1260 Ala details homologous mutations 1 23 26 N D ?
TMD2,TH11 p.Leu 1260 Trp details homologous mutations 1 2 2 D D ?
TMD2,TH11 p.Leu 1260 Ile details homologous mutations 1 2 2 N N ?
TMD2,TH11 p.Leu 1260 Gly details homologous mutations 1 2 2 N D ?
TMD2,TH11 p.Ala 1263 Thr details homologous mutations 2 3 3 N N ?
TMD2,TH12 p.Thr 1285 Leu details homologous mutations 1 28 31 D D ?
TMD2,TH12 p.Met 1289 Thr details homologous mutations 4 154 199 D N ?
TMD2,TH12 p.Met 1289 Leu details homologous mutations 1 5 9 D N ?
TMD2,TH12 p.Val 1290 Gln details homologous mutations 1 1 1 D D ?
CL6 p.Glu 1305 Ala details homologous mutations 2 2 2 D D ?
CL6 p.Glu 1305 Val details homologous mutations 1 1 1 D D ?
CL6 p.Glu 1305 Ile details homologous mutations 1 1 1 D D ?
CL6 p.Glu 1305 Gly details homologous mutations 1 1 1 D D ?
CL6 p.Gly 1316 Gln details homologous mutations 1 3 3 N N ?
CL6 p.Glu 1323 Lys details homologous mutations 2 18 19 D D ?
CL6 p.Glu 1326 Lys details homologous mutations 1 1 1 N D ?
CL6 p.Gly 1342 Glu details homologous mutations 1 3 3 D D ?
CL6 p.Gly 1342 Ala details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Ser 1356 Cys details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Ala 1366 Thr details homologous mutations 1 3 3 N N ?
CL6,NBD2 p.Ala 1369 Ser details homologous mutations 17 81 94 N N N
CL6,NBD2 p.Gln 1372 Ala details homologous mutations 1 5 6 D D ?
CL6,NBD2,WA2 p.Arg 1379 Cys details homologous mutations 4 33 38 D D ?
CL6,NBD2,WA2 p.Arg 1379 Leu details homologous mutations 1 17 17 D D ?
CL6,NBD2,WA2 p.Arg 1379 His details homologous mutations 1 12 13 D D ?
CL6,NBD2,WA2 p.Arg 1379 Ser details homologous mutations 1 1 1 D D ?
CL6,NBD2,WA2 p.Gly 1381 Ser details homologous mutations 1 3 3 D D ?
CL6,NBD2,WA2 p.Lys 1384 Met details homologous mutations 10 85 101 D D ?
CL6,NBD2,WA2 p.Lys 1384 Arg details homologous mutations 2 2 2 D D ?
CL6,NBD2,WA2 p.Lys 1384 Ala details homologous mutations 3 25 31 D D ?
CL6,NBD2 p.Ser 1386 Pro details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Phe 1392 Val details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Arg 1393 Leu details homologous mutations 1 4 4 D D ?
CL6,NBD2 p.Met 1394 Arg details homologous mutations 1 7 7 D D ?
CL6,NBD2 p.Asp 1396 Tyr details homologous mutations 2 3 3 D D ?
CL6,NBD2 p.Gly 1400 Asp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gly 1400 Arg details homologous mutations 1 4 4 D D ?
CL6,NBD2 p.Pro 1413 Leu details homologous mutations 2 4 4 N D ?
CL6,NBD2 p.Arg 1420 Cys details homologous mutations 14 145 160 D D ?
CL6,NBD2 p.Arg 1420 His details homologous mutations 2 77 91 D D ?
CL6,NBD2 p.Ile 1424 Val details homologous mutations 5 36 44 N N ?
CL6,NBD2 p.Gln 1426 Ala details homologous mutations 1 4 5 D D ?
CL6,NBD2 p.Gly 1433 Asp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1436 Gln details homologous mutations 5 34 36 D D ?
CL6,NBD2 p.Arg 1436 Cys details homologous mutations 1 2 2 D D ?
CL6,NBD2 p.Ser 1446 Arg details homologous mutations 2 4 5 D D ?
CL6,NBD2 p.Ser 1446 Ala details homologous mutations 1 2 2 D N ?
CL6,NBD2 p.Ser 1448 Ala details homologous mutations 1 10 11 N N ?
CL6,NBD2 p.Glu 1455 Leu details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ala 1457 Thr details homologous mutations 3 19 19 N D ?
CL6,NBD2 p.Gly 1469 * details homologous mutations 1 2 2 - - ?
CL6,NBD2 p.Gly 1469 Val details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Asp 1471 Asn details homologous mutations 3 22 24 N D D
CL6,NBD2 p.Asp 1471 His details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Gly 1477 Arg details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gly 1478 Val details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Gly 1478 Arg details homologous mutations 2 8 8 D D ?
CL6,NBD2,SIG2 p.Ser 1482 Arg details homologous mutations 2 4 5 D D ?
CL6,NBD2,SIG2 p.Gly 1484 Arg details homologous mutations 1 1 1 D D ?
CL6,NBD2,SIG2 p.Gly 1484 Asp details homologous mutations 1 1 1 D D ?
CL6,NBD2,SIG2 p.Gln 1485 His details homologous mutations 1 1 1 D D ?
CL6,NBD2,SIG2 p.Arg 1493 Trp details homologous mutations 3 8 13 D D ?
CL6,NBD2,SIG2 p.Arg 1493 Gln details homologous mutations 2 5 5 D D ?
CL6,NBD2 p.Ser 1500 Ala details homologous mutations 1 2 2 N N ?
CL6,NBD2 p.Ser 1500 Arg details homologous mutations 1 1 1 N N ?
CL6,NBD2,WB2 p.Asp 1505 Asn details homologous mutations 2 8 8 D D ?
CL6,NBD2,WB2 p.Asp 1505 His details homologous mutations 1 6 6 D D ?
CL6,NBD2 p.Glu 1506 Lys details homologous mutations 29 203 252 D D ?
CL6,NBD2 p.Glu 1506 Asp details homologous mutations 2 46 60 D D ?
CL6,NBD2 p.Glu 1506 Gly details homologous mutations 1 24 31 D D ?
CL6,NBD2 p.Glu 1506 Gln details homologous mutations 1 5 7 D D ?
CL6,NBD2 p.Asp 1512 Ala details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Thr 1515 Ala details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Lys 1521 Asn details homologous mutations 1 6 6 N N ?
CL6,NBD2 p.Val 1523 Leu details homologous mutations 3 18 24 D N D
CL6,NBD2 p.Val 1523 Ala details homologous mutations 4 9 9 N D D
CL6,NBD2 p.Val 1523 Met details homologous mutations 2 9 9 N D D
CL6,NBD2 p.Arg 1530 Cys details homologous mutations 1 9 10 D D ?
CL6,NBD2 p.Thr 1531 Ala details homologous mutations 1 10 10 D D ?
CL6,NBD2 p.His 1537 Ala details homologous mutations 1 4 5 D D ?
CL6,NBD2 p.Thr 1541 Gly details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Leu 1543 Pro details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Val 1550 Asp details homologous mutations 3 19 19 D D ?
CL6,NBD2 p.Leu 1551 Val details homologous mutations 4 46 53 N N ?
CL6,NBD2 p.Ala 1555 Gly details homologous mutations 1 2 2 N N ?
CL6,NBD2 p.Pro 1562 Ala details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Leu 1566 Ala details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ser 1571 Ala details homologous mutations 1 49 62 D N ?
CL6,NBD2 p.Ser 1571 Asp details homologous mutations 1 5 7 D D ?
CL6,NBD2 p.Val 1572 Ile details homologous mutations 1 4 4 N N N