No paralogue variants have been mapped to residue 1280 for CACNA1C.
CACNA1C | AMNILNMLFTGLFTVEMILKLIAFKPKHYF>C<DAWNTFDALIVVGSIVDIAITEVNPAE--- | 1307 |
CACNA1A | ALRVFNIVFTSLFSLECVLKVMAFGILNYF>R<DAWNIFDFVTVLGSITDILVTEFGNN---- | 1653 |
CACNA1B | MLKCLNIVFTSMFSMECVLKIIAFGVLNYF>R<DAWNVFDFVTVLGSITDILVTEIAET---- | 1559 |
CACNA1D | AMDILNMVFTGVFTVEMVLKVIAFKPKGYF>S<DAWNTFDSLIVIGSIIDVALSEADPTE--- | 1313 |
CACNA1E | ALKYLNIAFTMVFSLECVLKVIAFGFLNYF>R<DTWNIFDFITVIGSITEIILTDSKLV---- | 1565 |
CACNA1F | AMDILNMVFTGLFTIEMVLKIIAFKPKHYF>T<DAWNTFDALIVVGSIVDIAVTEVNNGG--- | 1278 |
CACNA1G | ALKICNYIFTVIFVLESVFKLVAFGFRRFF>Q<DRWNQLDLAIVLLSIMGITLEEIEVN---- | 1698 |
CACNA1H | ALKYCNYVFTIVFVFEAALKLVAFGFRRFF>K<DRWNQLDLAIVLLSLMGITLEEIEMS---- | 1704 |
CACNA1I | ALKYCNYMFTTVFVLEAVLKLVAFGLRRFF>K<DRWNQLDLAIVLLSVMGITLEEIEIN---- | 1574 |
CACNA1S | ISDILNVAFTIIFTLEMILKLMAFKARGYF>G<DPWNVFDFLIVIGSIIDVILSEIDTFLASS | 1209 |
SCN10A | ILGKINQFFVAVFTGECVMKMFALR-QYYF>T<NGWNVFDFIVVVLSIASLIFSAILKS---- | 1562 |
SCN11A | ILDHLNWVFVVIFTLECLIKIFALR-QYYF>T<NGWNLFDCVVVLLSIVSTMISTLENQ---- | 1452 |
SCN1A | ILSRINLVFIVLFTGECVLKLISLR-HYYF>T<IGWNIFDFVVVILSIVGMFLAELIE----- | 1626 |
SCN2A | ILYWINLVFIVLFTGECVLKLISLR-YYYF>T<IGWNIFDFVVVILSIVGMFLAELIE----- | 1616 |
SCN3A | VLSRINLVFIVLFTGEFVLKLVSLR-HYYF>T<IGWNIFDFVVVILSIVGMFLAEMIE----- | 1611 |
SCN4A | ILYNINMIFIIIFTGECVLKMLALR-QYYF>T<VGWNIFDFVVVILSIVGLALSDLIQ----- | 1438 |
SCN5A | ILAKINLLFVAIFTGECIVKLAALR-HYYF>T<NSWNIFDFVVVILSIVGTVLSDIIQ----- | 1613 |
SCN7A | ALYWINSIFVMLYTMECILKLIAFR-CFYF>T<IAWNIFDFMVVIFSITGLCLPMTVG----- | 1336 |
SCN8A | ILYWINLVFVIFFTCECVLKMFALR-HYYF>T<IGWNIFDFVVVILSIVGMFLADIIE----- | 1607 |
SCN9A | VLYWINVVFIILFTGECVLKLISLR-HYYF>T<VGWNIFDFVVVIISIVGMFLADLIE----- | 1589 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.C1280R | c.3838T>C | Putative Benign | SIFT: Polyphen: |