No paralogue variants have been mapped to residue 424 for SCN5A.
SCN5A | MLVIFLGSFYLVNLILAVVAMAYEEQNQAT>I<AETEEK-EKRFQEAMEMLKK---------- | 443 |
SCN1A | VLVIFLGSFYLINLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFQQMIEQLKK---------- | 453 |
SCN2A | VLVIFLGSFYLINLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFQQMLEQLKK---------- | 455 |
SCN3A | VLVIFLGSFYLVNLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFQQMLEQLKK---------- | 454 |
SCN4A | VVIIFLGSFYLINLILAVVAMAYAEQNEAT>L<AEDKEK-EEEFQQMLEKFKK---------- | 477 |
SCN7A | VVVSFLFSFYMASLFLGILAMAYEEEKQRV>G<EISKKI-EPKFQQTGKELQE---------- | 424 |
SCN8A | VLVIFVGSFYLVNLILAVVAMAYEEQNQAT>L<EEAEQK-EAEFKAMLEQLKK---------- | 441 |
SCN9A | VVVIFLGSFYLINLILAVVAMAYEEQNQAN>I<EEAKQK-ELEFQQMLDRLKK---------- | 432 |
SCN10A | VLVIFLGSFYLVNLILAVVTMAYEEQNQAT>T<DEIEAK-EKKFQEALEMLRK---------- | 427 |
SCN11A | IVVIFLGSFYLINLTLAVVTMAYEEQNKNV>A<AEIEAK-EKMFQEAQQLLKE---------- | 430 |
CACNA1A | IPLIIIGSFFMLNLVLGVLSGEFAKERERV>E<NRRAFLKLRRQQQIERELNG---------- | 391 |
CACNA1B | IPLIIIGSFFMLNLVLGVLSGEFAKERERV>E<NRRAFLKLRRQQQIERELNG---------- | 387 |
CACNA1C | VTLIIIGSFFVLNLVLGVLSGEFSKEREKA>K<ARGDFQKLREKQQLEEDLKG---------- | 436 |
CACNA1D | VSLIILGSFFVLNLVLGVLSGEFSKEREKA>K<ARGDFQKLREKQQLEEDLKG---------- | 437 |
CACNA1E | IPLIIIGSFFVLNLVLGVLSGEFAKERERV>E<NRRAFMKLRRQQQIERELNG---------- | 382 |
CACNA1F | VSLVIFGSFFVLNLVLGVLSGEFSKEREKA>K<ARGDFQKQREKQQMEEDLRG---------- | 403 |
CACNA1G | ILLIIVGSFFMINLCLVVIATQFSETKQRE>S<QLMREQRVRFLSNASTLASFSEPGSCYEEL | 436 |
CACNA1H | ILLIIVGSFFMINLCLVVIATQFSETKQRE>S<QLMREQRARHLSNDSTLASFSEPGSCYEEL | 460 |
CACNA1I | ILLIIVGSFFMINLCLVVIATQFSETKQRE>H<RLMLEQRQRYLS-SSTVASYAEPGDCYEEI | 438 |
CACNA1S | VTLILLGSFFILNLVLGVLSGEFTKEREKA>K<SRGTFQKLREKQQLDEDLRG---------- | 365 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I424M | c.1272C>G | Putative Benign | rs267599794 | SIFT: tolerated Polyphen: probably damaging |