No paralogue variants have been mapped to residue 1209 for CACNA1C.
CACNA1C | L------KARP-------LRRYIPK--NQH>Q<YKVWYVVNSTYFEYLMFVLILLNTICLAMQ | 1239 |
CACNA1A | I------SAKP-------LTRHMPQNKQSF>Q<YRMWQFVVSPPFEYTIMAMIALNTIVLMMK | 1586 |
CACNA1B | I------SAKP-------LTRYMPQNRQSF>Q<YKTWTFVVSPPFEYFIMAMIALNTVVLMMK | 1492 |
CACNA1D | L------KARP-------LRRYIPK--NPY>Q<YKFWYVVNSSPFEYMMFVLIMLNTLCLAMQ | 1245 |
CACNA1E | I------SAKP-------LTRYMPQNRHTF>Q<YRVWHFVVSPSFEYTIMAMIALNTVVLMMK | 1498 |
CACNA1F | L------KAQP-------LRRYIPK--NPH>Q<YRVWATVNSAAFEYLMFLLILLNTVALAMQ | 1210 |
CACNA1G | I-----ASGSSASAASEAQCKPYYSDYSRF>R<LLVHHLCTSHYLDLFITGVIGLNVVTMAME | 1631 |
CACNA1H | RSTFPSPEAQ---------RRPYYADYSPT>R<RSIHSLCTSHYLDLFITFIICVNVITMSME | 1637 |
CACNA1I | R------KAQ---------RLPYYATYCHT>R<LLIHSMCTSHYLDIFITFIICLNVVTMSLE | 1507 |
CACNA1S | L------KARP-------LRCYIPK--NPY>Q<YQVWYIVTSSYFEYLMFALIMLNTICLGMQ | 1138 |
SCN10A | L----G-SKKP--------QKPIPRPLNKF>Q<GFVFDIVTRQAFDITIMVLICLNMITMMVE | 1496 |
SCN11A | L----G-SKKP--------QKPIPRPLNKC>Q<GLVFDIVTSQIFDIIIISLIILNMISMMAE | 1386 |
SCN1A | L----G-SKKP--------QKPIPRPGNKF>Q<GMVFDFVTRQVFDISIMILICLNMVTMMVE | 1561 |
SCN2A | L----G-SKKP--------QKPIPRPANKF>Q<GMVFDFVTKQVFDISIMILICLNMVTMMVE | 1551 |
SCN3A | L----G-SKKP--------QKPIPRPANKF>Q<GMVFDFVTRQVFDISIMILICLNMVTMMVE | 1546 |
SCN4A | L----G-SKKP--------QKPIPRPQNKI>Q<GMVYDLVTKQAFDITIMILICLNMVTMMVE | 1373 |
SCN5A | L----G-SKKP--------QKPIPRPLNKY>Q<GFIFDIVTKQAFDVTIMFLICLNMVTMMVE | 1548 |
SCN7A | L----M-YEDS--------QRPVPRPLNKL>Q<GFIFDVVTSQAFNVIVMVLICFQAIAMMID | 1271 |
SCN8A | L----G-SKKP--------QKPIPRPLNKI>Q<GIVFDFVTQQAFDIVIMMLICLNMVTMMVE | 1542 |
SCN9A | L----G-SKKP--------QKPIPRPGNKI>Q<GCIFDLVTNQAFDISIMVLICLNMVTMMVE | 1524 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.Q1209R | c.3626A>G | Putative Benign | rs373833268 | SIFT: deleterious Polyphen: probably damaging |