No paralogue variants have been mapped to residue 415 for SCN5A.
SCN5A | GKIY-MIFFMLVIFLGSFYLVNLILAVVAM>A<YEEQNQATIAETEEK-EKRFQEAMEMLKK- | 443 |
SCN1A | GKTY-MIFFVLVIFLGSFYLINLILAVVAM>A<YEEQNQATLEEAEQK-EAEFQQMIEQLKK- | 453 |
SCN2A | GKTY-MIFFVLVIFLGSFYLINLILAVVAM>A<YEEQNQATLEEAEQK-EAEFQQMLEQLKK- | 455 |
SCN3A | GKTY-MIFFVLVIFLGSFYLVNLILAVVAM>A<YEEQNQATLEEAEQK-EAEFQQMLEQLKK- | 454 |
SCN4A | GKTY-MIFFVVIIFLGSFYLINLILAVVAM>A<YAEQNEATLAEDKEK-EEEFQQMLEKFKK- | 477 |
SCN7A | GKVY-MIFFVVVSFLFSFYMASLFLGILAM>A<YEEEKQRVGEISKKI-EPKFQQTGKELQE- | 424 |
SCN8A | GKTY-MIFFVLVIFVGSFYLVNLILAVVAM>A<YEEQNQATLEEAEQK-EAEFKAMLEQLKK- | 441 |
SCN9A | GKTY-MIFFVVVIFLGSFYLINLILAVVAM>A<YEEQNQANIEEAKQK-ELEFQQMLDRLKK- | 432 |
SCN10A | GKIY-MIFFVLVIFLGSFYLVNLILAVVTM>A<YEEQNQATTDEIEAK-EKKFQEALEMLRK- | 427 |
SCN11A | GLYS-VFFFIVVIFLGSFYLINLTLAVVTM>A<YEEQNKNVAAEIEAK-EKMFQEAQQLLKE- | 430 |
CACNA1A | GNTWNWLYFIPLIIIGSFFMLNLVLGVLSG>E<FAKERERVENRRAFLKLRRQQQIERELNG- | 391 |
CACNA1B | GNTWNWLYFIPLIIIGSFFMLNLVLGVLSG>E<FAKERERVENRRAFLKLRRQQQIERELNG- | 387 |
CACNA1C | GRDWPWIYFVTLIIIGSFFVLNLVLGVLSG>E<FSKEREKAKARGDFQKLREKQQLEEDLKG- | 436 |
CACNA1D | GWEWPWVYFVSLIILGSFFVLNLVLGVLSG>E<FSKEREKAKARGDFQKLREKQQLEEDLKG- | 437 |
CACNA1E | GATWNWLYFIPLIIIGSFFVLNLVLGVLSG>E<FAKERERVENRRAFMKLRRQQQIERELNG- | 382 |
CACNA1F | GYELPWVYFVSLVIFGSFFVLNLVLGVLSG>E<FSKEREKAKARGDFQKQREKQQMEEDLRG- | 403 |
CACNA1G | SF-YNFIYFILLIIVGSFFMINLCLVVIAT>Q<FSETKQRESQLMREQRVRFLSNASTLASFS | 427 |
CACNA1H | SF-YNFIYFILLIIVGSFFMINLCLVVIAT>Q<FSETKQRESQLMREQRARHLSNDSTLASFS | 451 |
CACNA1I | SF-YNFIYFILLIIVGSFFMINLCLVVIAT>Q<FSETKQREHRLMLEQRQRYLS-SSTVASYA | 429 |
CACNA1S | GNEWPWIYFVTLILLGSFFILNLVLGVLSG>E<FTKEREKAKSRGTFQKLREKQQLDEDLRG- | 365 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.A415T | c.1243G>A | Putative Benign | SIFT: deleterious Polyphen: possibly damaging |