Mutations in ABCA3

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
CL0 p.Trp   12 * details homologous mutations 1 2 2 - - ?
CL0 p.Arg   20 Leu details homologous mutations 2 5 8 D D ?
CL0 p.Arg   20 Trp details homologous mutations 1 2 2 D D ?
TMD1,TH1 p.Leu   39 Val details homologous mutations 1 4 4 N N ?
TMD1,EL1 p.Arg   43 Cys details homologous mutations 3 4 4 D D ?
TMD1,EL1 p.Arg   43 His details homologous mutations 3 3 3 D D ?
TMD1,EL1 p.Arg   43 Leu details homologous mutations 8 59 65 D D ?
TMD1,EL1 p.Asn   53 Gln details homologous mutations 1 2 2 N N ?
TMD1,EL1 p.Ala   54 Thr details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Pro   72 Arg details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Pro   73 Leu details homologous mutations 1 3 4 D N ?
TMD1,EL1 p.His   86 Tyr details homologous mutations 1 16 16 D N ?
TMD1,EL1 p.Val   93 Ile details homologous mutations 1 3 3 N N ?
TMD1,EL1 p.Leu  101 Pro details homologous mutations 14 153 180 D D D
TMD1,EL1 p.Arg  106 * details homologous mutations 2 6 8 - - ?
TMD1,EL1 p.Asp  115 Glu details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Asp  123 Asn details homologous mutations 3 12 14 D N N
TMD1,EL1 p.Asn  124 Gln details homologous mutations 1 7 7 N N ?
TMD1,EL1 p.Asn  124 Ser details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Val  129 Met details homologous mutations 2 3 3 D N ?
TMD1,EL1 p.Ala  132 Thr details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Val  133 Met details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Asn  140 Gln details homologous mutations 1 7 7 N N ?
TMD1,EL1 p.Asn  140 His details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Pro  147 Leu details homologous mutations 3 7 7 D D ?
TMD1,EL1 p.Arg  155 Gln details homologous mutations 1 4 8 D D ?
TMD1,EL1 p.Trp  165 * details homologous mutations 1 2 4 - - ?
TMD1,EL1 p.Trp  179 Cys details homologous mutations 2 2 3 D D ?
TMD1,EL1 p.Pro  186 Thr details homologous mutations 1 2 2 N D ?
TMD1,EL1 p.Pro  193 Arg details homologous mutations 1 6 6 N D ?
TMD1,EL1 p.Arg  194 Gly details homologous mutations 1 1 2 D D ?
TMD1,EL1 p.Glu  195 Lys details homologous mutations 1 1 1 N N ?
TMD1,EL1 p.Ser  198 Phe details homologous mutations 1 1 1 D N ?
TMD1,EL1 p.Gly  202 Arg details homologous mutations 1 6 6 N D ?
TMD1,EL1 p.Gly  205 Arg details homologous mutations 1 1 1 D D
TMD1,EL1 p.Arg  208 Trp details homologous mutations 5 15 18 D D ?
TMD1,EL1 p.Arg  208 Val details homologous mutations 1 2 2 D D ?
TMD1,EL1 p.Gly  210 Val details homologous mutations 2 5 5 D D ?
TMD1,EL1 p.Leu  212 Met details homologous mutations 5 10 16 N N ?
TMD1,EL1 p.Gln  215 Lys details homologous mutations 4 105 119 N D ?
TMD1,EL1 p.Phe  245 Leu details homologous mutations 1 1 1 N D ?
TMD1,EL1 p.Pro  246 Leu details homologous mutations 1 1 1 D D ?
TMD1,EL1 p.Pro  248 Leu details homologous mutations 1 2 4 D D ?
TMD1,EL1 p.Asp  253 His details homologous mutations 3 54 62 D D ?
TMD1,EL1 p.Asp  253 Tyr details homologous mutations 1 1 2 D D ?
TMD1,TH2 p.Pro  264 Arg details homologous mutations 1 1 2 D D ?
TMD1,CL1 p.Arg  280 Cys details homologous mutations 7 72 83 D D ?
TMD1,CL1 p.Arg  280 His details homologous mutations 2 6 6 D D ?
TMD1,CL1 p.Arg  288 Lys details homologous mutations 5 16 17 N N ?
TMD1,CL1 p.Glu  292 Val details homologous mutations 40 380 481 D D D
TMD1,CL1 p.Glu  292 Lys details homologous mutations 1 6 6 D D ?
TMD1,CL1 p.Glu  292 Asp details homologous mutations 1 8 8 N D ?
TMD1,CL1 p.Arg  295 Cys details homologous mutations 1 64 85 D N ?
TMD1,TH3 p.Leu  303 Val details homologous mutations 1 6 6 N N ?
TMD1,TH3 p.Trp  308 Arg details homologous mutations 2 4 5 D D ?
TMD1,TH3 p.Ala  320 Thr details homologous mutations 1 15 15 N N ?
TMD1,TH3 p.Leu  326 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH3 p.Leu  326 Pro details homologous mutations 1 1 1 D D D
TMD1,EL2 p.Ser  341 Asn details homologous mutations 1 4 4 N N ?
TMD1,TH4 p.Phe  353 Leu details homologous mutations 1 1 1 N D ?
TMD1,TH5 p.Gly  378 Arg details homologous mutations 1 2 2 D D ?
TMD1,TH5 p.Pro  388 Arg details homologous mutations 1 1 1 D D ?
TMD1,TH6 p.Leu  462 Arg details homologous mutations 2 5 5 D D ?
TMD1,TH6 p.Val  480 Met details homologous mutations 1 1 1 N N ?
CL3 p.Glu  522 Lys details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Asn  555 Ser details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Ile  561 Phe details homologous mutations 1 1 1 N D ?
CL3,NBD1,WA1 p.Asn  568 Asp details homologous mutations 13 100 115 N D D
CL3,NBD1,WA1 p.Ala  570 Thr details homologous mutations 1 1 1 N D ?
CL3,NBD1,WA1 p.Gly  571 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Thr  574 Ile details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Leu  579 Pro details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Pro  585 Ser details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Gly  594 Arg details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  605 Gln details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Leu  654 Val details homologous mutations 2 2 2 N D ?
CL3,NBD1,SIG1 p.Gly  668 Asp details homologous mutations 2 2 2 D D
CL3,NBD1,SIG1 p.Arg  671 Cys details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Glu  690 Lys details homologous mutations 6 104 130 D D ?
CL3,NBD1 p.Glu  690 Arg details homologous mutations 1 4 4 D D ?
CL3,NBD1 p.Glu  690 Asp details homologous mutations 1 6 6 N D ?
CL3,NBD1 p.Glu  690 Val details homologous mutations 1 6 6 N D ?
CL3,NBD1 p.Ser  693 Leu details homologous mutations 2 2 2 D D ?
CL3,NBD1 p.Asp  696 Asn details homologous mutations 1 2 2 D D
CL3,NBD1 p.Leu  707 Phe details homologous mutations 1 1 1 D D ?
CL3,NBD1 p.Arg  709 Trp details homologous mutations 1 2 2 D D
CL3,NBD1 p.Glu  725 Lys details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Gly  739 Ala details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Met  760 Arg details homologous mutations 2 3 3 D D ?
CL3,NBD1 p.Thr  761 Lys details homologous mutations 1 1 1 N D ?
CL3,NBD1 p.Thr  761 Met details homologous mutations 1 6 7 N N ?
CL3 p.Pro  766 Ser details homologous mutations 3 18 19 D D
CL3 p.Pro  770 Leu details homologous mutations 1 1 1 N N ?
CL3 p.His  778 Arg details homologous mutations 1 1 1 N D ?
CL3 p.Leu  798 Pro details homologous mutations 1 4 4 D D ?
CL3 p.Thr  803 Met details homologous mutations 1 10 10 N D ?
CL3 p.Ala  823 Pro details homologous mutations 1 1 1 N D
CL3 p.Val  839 Phe details homologous mutations 1 4 4 N D ?
CL3 p.Ser  872 Gly details homologous mutations 1 4 4 N N ?
CL3 p.Lys  914 Arg details homologous mutations 2 5 5 N D ?
TMD2,TH7 p.Pro  933 Leu details homologous mutations 1 1 1 D N ?
TMD2,TH7 p.Leu  941 Pro details homologous mutations 2 4 5 D D ?
TMD2,EL4 p.Asn  945 Gln details homologous mutations 1 3 3 N N ?
TMD2,EL4 p.Asp  953 Asn details homologous mutations 1 1 1 D N ?
TMD2,EL4 p.Leu  960 Ser details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Leu  960 Phe details homologous mutations 2 2 3 N D ?
TMD2,EL4 p.Tyr  963 Cys details homologous mutations 1 4 4 D D ?
TMD2,EL4 p.Gly  964 Ser details homologous mutations 2 5 5 D D ?
TMD2,EL4 p.Gly  964 Asp details homologous mutations 2 34 37 D D ?
TMD2,EL4 p.Val  968 Met details homologous mutations 1 1 1 N D ?
TMD2,EL4 p.Leu  982 Pro details homologous mutations 6 49 61 D D ?
TMD2,EL4 p.Leu  982 Asp details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Gly 1002 Arg details homologous mutations 1 2 4 N D ?
TMD2,EL4 p.Ala 1027 Pro details homologous mutations 1 2 2 N D ?
TMD2,EL4 p.Ser 1028 Val details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Ala 1070 Thr details homologous mutations 1 1 1 N D ?
TMD2,EL4 p.Asn 1076 Lys details homologous mutations 1 2 2 N D ?
TMD2,EL4 p.Arg 1081 Trp details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Ala 1086 Asp details homologous mutations 1 20 20 N N ?
TMD2,TH8 p.Thr 1114 Met details homologous mutations 6 60 65 N D ?
TMD2,TH8 p.Thr 1114 Ser details homologous mutations 1 8 8 N N ?
TMD2,TH8 p.Thr 1114 Ala details homologous mutations 2 18 20 N N ?
TMD2,TH8 p.Ser 1116 Phe details homologous mutations 1 1 1 D D ?
TMD2,TH8 p.Ile 1117 Met details homologous mutations 1 1 1 N N ?
TMD2,TH8 p.Ala 1119 Glu details homologous mutations 1 1 1 N N ?
TMD2,TH9 p.Trp 1142 * details homologous mutations 5 21 36 - - D
TMD2,TH9 p.Trp 1148 * details homologous mutations 2 10 10 - - ?
TMD2,EL5 p.Phe 1164 Val details homologous mutations 1 1 1 N D ?
TMD2,EL5 p.Thr 1173 Arg details homologous mutations 2 59 72 N D ?
TMD2,TH10 p.Gly 1205 Arg details homologous mutations 1 3 4 D N ?
TMD2,TH11 p.Gly 1221 Ser details homologous mutations 7 92 114 N D ?
TMD2,TH11 p.Gly 1221 Ala details homologous mutations 1 3 3 D D ?
TMD2,TH11 p.Gly 1221 Thr details homologous mutations 1 3 3 D D ?
TMD2,TH11 p.Gly 1221 Val details homologous mutations 1 3 3 D D ?
TMD2,EL6 p.Leu 1252 Pro details homologous mutations 1 1 1 D D ?
TMD2,EL6 p.Pro 1253 Ser details homologous mutations 1 1 1 D D ?
TMD2,EL6 p.His 1255 Gln details homologous mutations 1 4 6 D D ?
TMD2,EL6 p.Ser 1262 Gly details homologous mutations 2 22 23 D D ?
TMD2,EL6 p.Arg 1271 Gln details homologous mutations 1 1 1 D N ?
TMD2,EL6 p.Ala 1297 Thr details homologous mutations 1 1 1 N N ?
TMD2,EL6 p.Pro 1301 Leu details homologous mutations 1 2 2 D N ?
TMD2,EL6 p.Gly 1302 Glu details homologous mutations 1 2 2 D D ?
TMD2,TH12 p.Glu 1325 Lys details homologous mutations 1 1 1 D D ?
CL6 p.Arg 1333 Gly details homologous mutations 1 2 2 D D ?
CL6 p.Ala 1362 Val details homologous mutations 1 3 4 N N ?
CL6,NBD2 p.Ile 1382 Met details homologous mutations 1 1 1 N N ?
CL6,NBD2,WA2 p.Asn 1418 Ser details homologous mutations 2 2 2 N D ?
CL6,NBD2,WA2 p.Asn 1418 Ile details homologous mutations 1 10 10 D D ?
CL6,NBD2,WA2 p.Thr 1423 Ile details homologous mutations 1 2 2 N D ?
CL6,NBD2 p.Thr 1424 Met details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Met 1428 Leu details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Arg 1457 Gln details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Asp 1465 Asn details homologous mutations 1 9 9 N D ?
CL6,NBD2 p.Ala 1466 Thr details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Arg 1474 Trp details homologous mutations 3 23 23 D D ?
CL6,NBD2 p.Arg 1482 Trp details homologous mutations 2 3 3 D D ?
CL6,NBD2 p.Val 1495 Met details homologous mutations 2 2 2 N D ?
CL6,NBD2,SIG2 p.Tyr 1515 * details homologous mutations 2 4 5 - - ?
CL6,NBD2,SIG2 p.Ser 1516 Asn details homologous mutations 1 1 1 N D ?
CL6,NBD2,SIG2 p.Arg 1521 Trp details homologous mutations 1 8 8 D D ?
CL6,NBD2 p.Arg 1550 Trp details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Leu 1552 Pro details homologous mutations 2 6 6 D D ?
CL6,NBD2 p.Leu 1553 Pro details homologous mutations 7 44 62 D D D
CL6,NBD2 p.Arg 1561 * details homologous mutations 1 1 1 - - ?
CL6,NBD2 p.Arg 1561 Lys details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Arg 1561 Gln details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Glu 1578 Lys details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Leu 1580 Pro details homologous mutations 6 55 67 D D ?
CL6,NBD2 p.Leu 1580 Val details homologous mutations 1 3 3 N D ?
CL6,NBD2 p.Leu 1580 Ala details homologous mutations 1 4 4 D D ?
CL6,NBD2 p.Leu 1580 Phe details homologous mutations 1 4 4 N D ?
CL6,NBD2 p.Arg 1583 Trp details homologous mutations 2 14 14 D D ?
CL6,NBD2 p.Val 1588 Met details homologous mutations 1 1 1 N D ?
CL6,NBD2 p.Gln 1589 * details homologous mutations 1 1 1 - - ?
CL6,NBD2 p.Gln 1591 Pro details homologous mutations 7 36 44 D D D
CL6,NBD2 p.Leu 1595 Pro details homologous mutations 1 1 2 D D ?
CL6,NBD2 p.Gly 1608 Cys details homologous mutations 1 1 1 D D
CL6,NBD2 p.Arg 1612 Pro details homologous mutations 1 3 4 D N ?
CL6 p.Pro 1653 Leu details homologous mutations 1 1 1 D D ?
CL6 p.Ala 1660 Val details homologous mutations 1 1 1 N D ?