No paralogue variants have been mapped to residue 1249 for CACNA1C.
CACNA1C | TYFEYLMFVLILLNTICLAMQHYGQSCLFK>I<AMNILNMLFTGLFTVEMILKLIAFKPKHYF | 1279 |
CACNA1A | PPFEYTIMAMIALNTIVLMMKFYGASVAYE>N<ALRVFNIVFTSLFSLECVLKVMAFGILNYF | 1626 |
CACNA1B | PPFEYFIMAMIALNTVVLMMKFYDAPYEYE>L<MLKCLNIVFTSMFSMECVLKIIAFGVLNYF | 1532 |
CACNA1D | SPFEYMMFVLIMLNTLCLAMQHYEQSKMFN>D<AMDILNMVFTGVFTVEMVLKVIAFKPKGYF | 1285 |
CACNA1E | PSFEYTIMAMIALNTVVLMMKYYSAPCTYE>L<ALKYLNIAFTMVFSLECVLKVIAFGFLNYF | 1538 |
CACNA1F | AAFEYLMFLLILLNTVALAMQHYEQTAPFN>Y<AMDILNMVFTGLFTIEMVLKIIAFKPKHYF | 1250 |
CACNA1G | HYLDLFITGVIGLNVVTMAMEHYQQPQILD>E<ALKICNYIFTVIFVLESVFKLVAFGFRRFF | 1671 |
CACNA1H | HYLDLFITFIICVNVITMSMEHYNQPKSLD>E<ALKYCNYVFTIVFVFEAALKLVAFGFRRFF | 1677 |
CACNA1I | HYLDIFITFIICLNVVTMSLEHYNQPTSLE>T<ALKYCNYMFTTVFVLEAVLKLVAFGLRRFF | 1547 |
CACNA1S | SYFEYLMFALIMLNTICLGMQHYNQSEQMN>H<ISDILNVAFTIIFTLEMILKLMAFKARGYF | 1178 |
SCN10A | QAFDITIMVLICLNMITMMVETDDQSEEKT>K<ILGKINQFFVAVFTGECVMKMFALR-QYYF | 1535 |
SCN11A | QIFDIIIISLIILNMISMMAESYNQPKAMK>S<ILDHLNWVFVVIFTLECLIKIFALR-QYYF | 1425 |
SCN1A | QVFDISIMILICLNMVTMMVETDDQSEYVT>T<ILSRINLVFIVLFTGECVLKLISLR-HYYF | 1600 |
SCN2A | QVFDISIMILICLNMVTMMVETDDQSQEMT>N<ILYWINLVFIVLFTGECVLKLISLR-YYYF | 1590 |
SCN3A | QVFDISIMILICLNMVTMMVETDDQGKYMT>L<VLSRINLVFIVLFTGEFVLKLVSLR-HYYF | 1585 |
SCN4A | QAFDITIMILICLNMVTMMVETDNQSQLKV>D<ILYNINMIFIIIFTGECVLKMLALR-QYYF | 1412 |
SCN5A | QAFDVTIMFLICLNMVTMMVETDDQSPEKI>N<ILAKINLLFVAIFTGECIVKLAALR-HYYF | 1587 |
SCN7A | QAFNVIVMVLICFQAIAMMIDTDVQSLQMS>I<ALYWINSIFVMLYTMECILKLIAFR-CFYF | 1310 |
SCN8A | QAFDIVIMMLICLNMVTMMVETDTQSKQME>N<ILYWINLVFVIFFTCECVLKMFALR-HYYF | 1581 |
SCN9A | QAFDISIMVLICLNMVTMMVEKEGQSQHMT>E<VLYWINVVFIILFTGECVLKLISLR-HYYF | 1563 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1249F | c.3745A>T | Putative Benign | SIFT: Polyphen: |