Mutations in ABCC6

reference sequence

Region Mutation
Publications
Sentences
MutMiner_hits
SNAP2
PROVEAN
Effect_ExpVar
ELa p.Asn   15 Asp details homologous mutations 1 4 4 N N ?
TMD0,THa p.Trp   38 Ser details homologous mutations 2 6 6 D D D
TMD0,THa p.Pro   40 Ser details homologous mutations 1 1 1 N D ?
TMD0,CLa p.Gly   61 Asp details homologous mutations 2 4 4 D D D
TMD0,CLa p.Tyr   62 His details homologous mutations 1 1 2 D D ?
TMD0,CLb p.Glu  125 Lys details homologous mutations 4 10 11 D D D
TMD0,CLb p.Glu  125 * details homologous mutations 1 1 1 - - D
TMD0,CLb p.Gly  129 Glu details homologous mutations 1 1 1 D D D
TMD0,ELc p.Gln  154 Arg details homologous mutations 1 1 1 N N ?
TMD0,ELc p.Arg  166 Cys details homologous mutations 1 1 1 D D ?
CL0 p.Gln  199 * details homologous mutations 1 1 1 - - D
CL0,L0 p.Gly  207 Arg details homologous mutations 1 1 1 D N D
CL0,L0 p.Trp  218 Cys details homologous mutations 1 5 9 D D D
CL0,L0 p.Gly  226 Arg details homologous mutations 1 2 2 D D D
CL0,L0 p.Tyr  227 * details homologous mutations 2 6 6 - - D
CL0,L0 p.Glu  242 * details homologous mutations 1 1 1 - - D
CL0,L0 p.Ser  245 Thr details homologous mutations 1 1 1 N D ?
CL0,L0 p.Leu  248 Phe details homologous mutations 1 1 1 N N D
CL0,L0 p.Leu  252 Phe details homologous mutations 2 9 10 N N D
CL0 p.Arg  265 Gly details homologous mutations 4 5 5 D N D
CL0 p.Lys  281 Glu details homologous mutations 3 6 6 N N D
TMD1,TH1 p.Ser  317 Arg details homologous mutations 5 12 12 D N D
TMD1,TH1 p.Ile  319 Val details homologous mutations 3 6 6 N N D
TMD1,TH2 p.Leu  355 Arg details homologous mutations 1 2 2 D D D
TMD1,TH2 p.Gln  363 * details homologous mutations 2 3 3 - - D
TMD1,TH2 p.Thr  364 Arg details homologous mutations 8 20 20 N D D
TMD1,TH2 p.Thr  364 Met details homologous mutations 1 1 1 D D D
TMD1,CL1 p.Asn  370 Asp details homologous mutations 1 2 2 D N D
TMD1,CL1 p.Gln  378 * details homologous mutations 25 60 72 - - D
TMD1,CL1 p.Arg  382 Trp details homologous mutations 1 1 1 D D D
TMD1,CL1 p.Arg  391 Gly details homologous mutations 12 29 35 D D D
TMD1,CL1 p.Lys  392 Asn details homologous mutations 1 1 1 D D D
TMD1,CL1 p.Ser  398 Arg details homologous mutations 2 2 2 D D D
TMD1,CL1 p.Asn  411 Lys details homologous mutations 6 8 8 N D D
TMD1,CL1 p.Val  415 Ala details homologous mutations 1 8 9 N D D
TMD1,CL1 p.Val  417 Ile details homologous mutations 1 1 1 D N ?
TMD1,CL1 p.Val  417 Met details homologous mutations 1 1 1 D N ?
TMD1,CL1 p.Arg  419 Gln details homologous mutations 1 10 16 N D ?
TMD1,CL1 p.Glu  422 Lys details homologous mutations 1 5 5 D D ?
TMD1,TH3 p.Asn  428 Ser details homologous mutations 1 2 3 D D ?
TMD1,TH3 p.Val  438 Met details homologous mutations 1 1 1 N N ?
TMD1,TH3 p.Cys  440 Gly details homologous mutations 3 7 7 D D D
TMD1,TH4 p.Ala  455 Pro details homologous mutations 6 8 8 N D D
TMD1,TH4 p.Leu  463 His details homologous mutations 2 3 3 D D D
TMD1,TH4 p.Asn  466 Tyr details homologous mutations 2 3 3 D D D
TMD1,CL2 p.His  475 Leu details homologous mutations 1 1 1 N N ?
TMD1,CL2 p.Arg  487 Gln details homologous mutations 1 8 8 D D D
TMD1,CL2 p.Leu  495 His details homologous mutations 3 4 5 D D D
TMD1,CL2 p.Asn  497 Lys details homologous mutations 2 6 6 N D D
TMD1,CL2 p.Thr  500 Pro details homologous mutations 1 1 1 D D D
TMD1,CL2 p.Lys  502 Met details homologous mutations 1 2 2 D D D
TMD1,CL2 p.Glu  507 * details homologous mutations 1 1 1 - - ?
TMD1,CL2 p.Val  514 Ile details homologous mutations 1 2 2 D N D
TMD1,CL2 p.Arg  518 Gln details homologous mutations 18 33 41 D D D
TMD1,CL2 p.Arg  518 * details homologous mutations 16 32 49 - - D
TMD1,CL2 p.Glu  521 Asp details homologous mutations 1 1 1 D D D
TMD1,TH5 p.Ser  535 Pro details homologous mutations 1 1 1 D D D
TMD1,EL3 p.Met  562 Thr details homologous mutations 1 3 3 D D D
TMD1,TH6 p.Phe  568 Ser details homologous mutations 8 14 15 D D D
CL3 p.Ser  587 Cys details homologous mutations 1 8 8 N N N
CL3 p.Arg  600 Gly details homologous mutations 3 6 6 D D D
CL3 p.Arg  600 Cys details homologous mutations 2 3 3 D D D
CL3 p.Arg  600 His details homologous mutations 1 1 2 D D D
CL3 p.Val  614 Ala details homologous mutations 7 17 18 N N D
CL3,NBD1 p.His  632 Gln details homologous mutations 8 15 16 D N D
CL3,NBD1 p.Gln  655 Arg details homologous mutations 1 9 10 N N D
CL3,NBD1,WA1 p.Gly  663 Cys details homologous mutations 1 1 1 D D D
CL3,NBD1,WA1 p.Gly  663 Ser details homologous mutations 1 1 1 D D D
CL3,NBD1,WA1 p.Pro  664 Ser details homologous mutations 2 4 4 N N D
CL3,NBD1,WA1 p.Gly  666 Val details homologous mutations 1 1 1 D D D
CL3,NBD1,WA1 p.Gly  666 Arg details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Leu  673 Pro details homologous mutations 6 12 12 D D D
CL3,NBD1 p.Leu  677 Pro details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Gln  698 Pro details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Glu  699 Asp details homologous mutations 1 1 1 D N D
CL3,NBD1 p.Asp  718 Gly details homologous mutations 1 2 2 N D ?
CL3,NBD1 p.Arg  724 Lys details homologous mutations 3 10 10 N N D
CL3,NBD1 p.Arg  724 Leu details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Leu  726 Pro details homologous mutations 2 6 7 D D D
CL3,NBD1 p.Ile  742 Val details homologous mutations 4 11 11 N N D
CL3,NBD1 p.Gln  749 * details homologous mutations 5 12 13 - - D
CL3,NBD1 p.Met  751 Lys details homologous mutations 7 17 20 D D D
CL3,NBD1,SIG1 p.Gly  755 Arg details homologous mutations 2 2 2 D D D
CL3,NBD1,SIG1 p.Arg  760 Trp details homologous mutations 7 18 19 D D D
CL3,NBD1,SIG1 p.Arg  760 Gln details homologous mutations 2 2 3 D D D
CL3,NBD1,SIG1 p.Arg  765 Gln details homologous mutations 16 32 34 D D D
CL3,NBD1,SIG1 p.Arg  765 Trp details homologous mutations 1 1 1 D D D
CL3,NBD1,SIG1 p.Ala  766 Asp details homologous mutations 4 7 8 D D D
CL3,NBD1 p.Tyr  768 * details homologous mutations 8 20 24 - - D
CL3,NBD1 p.Arg  769 Lys details homologous mutations 1 1 1 N N ?
CL3,NBD1,WB1 p.Asp  777 Asn details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Ala  781 Val details homologous mutations 1 2 2 D D D
CL3,NBD1 p.Val  787 Ile details homologous mutations 1 1 1 N N D
CL3,NBD1 p.Asn  793 Leu details homologous mutations 1 1 1 N D D
CL3,NBD1 p.Arg  807 Gln details homologous mutations 3 3 4 D D D
CL3,NBD1 p.Arg  807 Trp details homologous mutations 1 1 1 D D D
CL3,NBD1 p.Val  810 Met details homologous mutations 3 6 6 D D D
CL3,NBD1 p.Thr  811 Met details homologous mutations 2 4 4 D D D
CL3,NBD1 p.Ala  820 Pro details homologous mutations 3 6 7 D D D
CL3,NBD1 p.Leu  826 Pro details homologous mutations 1 3 3 D D D
CL3,NBD1 p.Ala  830 Gly details homologous mutations 2 2 2 N N ?
CL3,NBD1 p.Met  848 Val details homologous mutations 2 3 3 N N ?
CL3,NBD1 p.Leu  851 Pro details homologous mutations 3 11 11 D D D
CL3 p.Arg  881 Ser details homologous mutations 1 1 1 D N D
CL3 p.Tyr  938 * details homologous mutations 1 1 1 - - D
CL3 p.Thr  944 Ile details homologous mutations 2 2 2 D N D
CL3 p.Leu  946 Ile details homologous mutations 7 16 20 N N D
CL3 p.Ala  950 Thr details homologous mutations 1 1 1 D N D
CL3 p.Ala  950 Val details homologous mutations 1 8 8 D N D
TMD2,TH7 p.Phe  952 Cys details homologous mutations 4 11 11 N D D
TMD2,TH7 p.Leu  953 His details homologous mutations 2 3 3 N D D
TMD2,TH7 p.Arg  964 Pro details homologous mutations 2 5 5 D N D
TMD2,TH7 p.Trp  971 Arg details homologous mutations 1 1 1 D D ?
TMD2,EL4 p.Gln  981 His details homologous mutations 1 1 1 D D D
TMD2,TH8 p.Gly  992 Arg details homologous mutations 2 3 3 D D D
TMD2,CL4 p.Leu 1011 Pro details homologous mutations 1 1 1 D D ?
TMD2,CL4 p.Leu 1025 Pro details homologous mutations 2 2 2 D D D
TMD2,CL4 p.Arg 1030 * details homologous mutations 9 12 17 - - D
TMD2,CL4 p.Gly 1042 Ser details homologous mutations 2 5 5 D D ?
TMD2,CL4 p.Ser 1049 Ala details homologous mutations 1 8 8 N N D
TMD2,CL4 p.Asp 1056 Glu details homologous mutations 1 2 2 D D D
TMD2,CL4 p.Leu 1063 Arg details homologous mutations 2 8 8 D D D
TMD2,CL4 p.Arg 1064 Trp details homologous mutations 3 7 7 D D D
TMD2,CL5 p.Arg 1114 Pro details homologous mutations 9 18 19 D D D
TMD2,CL5 p.Arg 1114 His details homologous mutations 9 16 16 D D D
TMD2,CL5 p.Arg 1114 Cys details homologous mutations 6 17 18 D D D
TMD2,CL5 p.Ser 1121 Trp details homologous mutations 6 15 16 D D D
TMD2,CL5 p.Met 1127 Thr details homologous mutations 3 8 9 D N D
TMD2,CL5 p.Thr 1130 Met details homologous mutations 12 25 27 D D D
TMD2,CL5 p.Thr 1130 Asn details homologous mutations 1 1 1 D D D
TMD2,CL5 p.Gly 1133 Ala details homologous mutations 2 2 2 D D D
TMD2,CL5 p.Gly 1133 Cys details homologous mutations 1 6 6 D D D
TMD2,CL5 p.Arg 1138 Gln details homologous mutations 23 53 60 D D D
TMD2,CL5 p.Arg 1138 Trp details homologous mutations 17 32 44 D D D
TMD2,CL5 p.Arg 1138 Pro details homologous mutations 5 7 7 D D D
TMD2,CL5 p.Arg 1138 * details homologous mutations 1 1 1 - - D
TMD2,CL5 p.Ala 1139 Thr details homologous mutations 1 1 3 D D D
TMD2,CL5 p.Arg 1141 * details homologous mutations 87 456 679 - - D
TMD2,CL5 p.Arg 1141 Cys details homologous mutations 1 1 1 N D D
TMD2,CL5 p.Arg 1141 Trp details homologous mutations 1 1 1 D D D
TMD2,CL5 p.Gln 1143 * details homologous mutations 2 2 2 - - D
TMD2,CL5 p.Arg 1164 * details homologous mutations 18 52 54 - - D
TMD2,CL5 p.Arg 1164 Gln details homologous mutations 4 7 10 D N D
TMD2,TH11 p.Gly 1181 Asp details homologous mutations 1 1 1 D N ?
TMD2,TH12 p.Gly 1203 Asp details homologous mutations 6 10 10 D D D
CL6 p.Arg 1221 Cys details homologous mutations 10 23 23 D D D
CL6 p.Arg 1221 His details homologous mutations 7 15 16 D D D
CL6 p.Trp 1223 * details homologous mutations 4 7 7 - - D
CL6 p.Leu 1226 Ile details homologous mutations 1 1 1 D N D
CL6 p.Glu 1234 Val details homologous mutations 1 1 1 D D ?
CL6 p.Arg 1235 Trp details homologous mutations 1 1 1 D D D
CL6 p.Gln 1237 * details homologous mutations 7 9 9 - - D
CL6 p.Asp 1238 His details homologous mutations 5 17 22 D D D
CL6 p.Tyr 1239 His details homologous mutations 3 4 4 D D D
CL6 p.Trp 1241 Cys details homologous mutations 2 4 4 D N D
CL6 p.Trp 1241 * details homologous mutations 1 1 1 - - D
CL6 p.Glu 1245 Asp details homologous mutations 1 1 1 N D D
CL6 p.Trp 1259 Gly details homologous mutations 1 1 1 D D ?
CL6 p.Gly 1263 Arg details homologous mutations 2 2 2 D D D
CL6,NBD2 p.Arg 1268 Gln details homologous mutations 29 91 95 D N D
CL6,NBD2 p.Arg 1273 Lys details homologous mutations 1 4 4 D N D
CL6,NBD2 p.Arg 1275 * details homologous mutations 5 12 14 - - D
CL6,NBD2 p.Ala 1291 Thr details homologous mutations 2 4 4 D N D
CL6,NBD2 p.Glu 1293 Lys details homologous mutations 1 5 5 D D D
CL6,NBD2 p.Val 1298 Phe details homologous mutations 14 44 44 D D D
CL6,NBD2,WA2 p.Gly 1299 Ser details homologous mutations 1 2 2 D D D
CL6,NBD2,WA2 p.Thr 1301 Ile details homologous mutations 9 17 19 D D D
CL6,NBD2,WA2 p.Gly 1302 Arg details homologous mutations 15 34 34 D D D
CL6,NBD2,WA2 p.Ala 1303 Pro details homologous mutations 10 16 19 N D D
CL6,NBD2 p.Ser 1307 Pro details homologous mutations 1 2 2 D D D
CL6,NBD2 p.Gly 1311 Glu details homologous mutations 3 9 10 D D D
CL6,NBD2 p.Arg 1314 Trp details homologous mutations 17 43 48 D D D
CL6,NBD2 p.Arg 1314 Gln details homologous mutations 10 14 14 N D D
CL6,NBD2 p.Gly 1321 Ser details homologous mutations 12 33 34 N D D
CL6,NBD2 p.Gly 1321 Arg details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Trp 1324 * details homologous mutations 1 2 3 - - D
CL6,NBD2 p.Asp 1326 Asn details homologous mutations 2 4 4 D D D
CL6,NBD2 p.Gly 1327 Glu details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Ile 1330 Leu details homologous mutations 1 1 1 D N ?
CL6,NBD2 p.Leu 1335 Pro details homologous mutations 5 11 11 D D D
CL6,NBD2 p.Leu 1335 Gln details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Arg 1339 Cys details homologous mutations 16 64 83 D D D
CL6,NBD2 p.Arg 1339 Gln details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Arg 1339 His details homologous mutations 2 2 2 D D D
CL6,NBD2 p.Ile 1342 Thr details homologous mutations 1 1 1 D D D
CL6,NBD2 p.Pro 1346 Ser details homologous mutations 4 7 7 D D D
CL6,NBD2 p.Gln 1347 His details homologous mutations 8 20 21 N D D
CL6,NBD2 p.Ile 1350 Leu details homologous mutations 1 1 1 N N D
CL6,NBD2 p.Gly 1354 Arg details homologous mutations 7 15 17 D D D
CL6,NBD2 p.Arg 1357 Trp details homologous mutations 4 12 12 D D D
CL6,NBD2 p.Asp 1361 Asn details homologous mutations 5 7 7 N D D
CL6,NBD2 p.Glu 1369 Lys details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Lys 1394 Asn details homologous mutations 4 8 8 N N D
CL6,NBD2 p.Arg 1398 * details homologous mutations 8 9 9 - - D
CL6,NBD2 p.Glu 1400 Lys details homologous mutations 10 19 28 D D D
CL6,NBD2,SIG2 p.Ser 1403 Arg details homologous mutations 3 14 14 D D D
CL6,NBD2,SIG2 p.Gly 1405 Ser details homologous mutations 1 1 1 D D D
CL6,NBD2,SIG2 p.Gln 1406 Lys details homologous mutations 2 2 2 D D D
CL6,NBD2,SIG2 p.Leu 1416 Arg details homologous mutations 1 1 1 D D ?
CL6,NBD2 p.Arg 1418 Gln details homologous mutations 1 1 1 N D D
CL6,NBD2,WB2 p.Ile 1424 Thr details homologous mutations 5 7 7 N D D
CL6,NBD2 p.Glu 1427 Lys details homologous mutations 1 7 7 D D ?
CL6,NBD2 p.Arg 1459 Cys details homologous mutations 8 43 51 D D D
CL6,NBD2 p.Arg 1461 His details homologous mutations 1 1 1 N N ?
CL6,NBD2 p.Gly 1481 Ser details homologous mutations 1 1 1 D N D
CL6,NBD2 p.Arg 1495 Cys details homologous mutations 3 5 6 D D ?
CL6 p.Gly 1501 Ser details homologous mutations 2 3 3 D D D