No paralogue variants have been mapped to residue 388 for SCN5A.
SCN5A | FAWAFLALFRLMTQDCWERLYQQTLRSAGK>I<Y-MIFFMLVIFLGSFYLVNLILAVVAMAYE | 417 |
SCN1A | FSWAFLSLFRLMTQDFWENLYQLTLRAAGK>T<Y-MIFFVLVIFLGSFYLINLILAVVAMAYE | 427 |
SCN2A | FSWAFLSLFRLMTQDFWENLYQLTLRAAGK>T<Y-MIFFVLVIFLGSFYLINLILAVVAMAYE | 429 |
SCN3A | FSWAFLSLFRLMTQDYWENLYQLTLRAAGK>T<Y-MIFFVLVIFLGSFYLVNLILAVVAMAYE | 428 |
SCN4A | FSWAFLALFRLMTQDYWENLFQLTLRAAGK>T<Y-MIFFVVIIFLGSFYLINLILAVVAMAYA | 451 |
SCN7A | FGWALFALFRLMAQDYPEVLYHQILYASGK>V<Y-MIFFVVVSFLFSFYMASLFLGILAMAYE | 398 |
SCN8A | FSWAFLALFRLMTQDYWENLYQLTLRAAGK>T<Y-MIFFVLVIFVGSFYLVNLILAVVAMAYE | 415 |
SCN9A | FSWAFLALFRLMTQDYWENLYQQTLRAAGK>T<Y-MIFFVVVIFLGSFYLINLILAVVAMAYE | 406 |
SCN10A | FAWAFLSLFRLMTQDSWERLYQQTLRTSGK>I<Y-MIFFVLVIFLGSFYLVNLILAVVTMAYE | 401 |
SCN11A | FGWSFLAMFRLMTQDSWEKLYQQTLRTTGL>Y<S-VFFFIVVIFLGSFYLINLTLAVVTMAYE | 404 |
CACNA1A | ILFAVLTVFQCITMEGWTDLLYNSNDASGN>T<WNWLYFIPLIIIGSFFMLNLVLGVLSGEFA | 364 |
CACNA1B | ILFAILTVFQCITMEGWTDILYNTNDAAGN>T<WNWLYFIPLIIIGSFFMLNLVLGVLSGEFA | 360 |
CACNA1C | FAFAMLTVFQCITMEGWTDVLYWVNDAVGR>D<WPWIYFVTLIIIGSFFVLNLVLGVLSGEFS | 409 |
CACNA1D | FAFAMLTVFQCITMEGWTDVLYWVNDAIGW>E<WPWVYFVSLIILGSFFVLNLVLGVLSGEFS | 410 |
CACNA1E | ILFAVLTVFQCITMEGWTTVLYNTNDALGA>T<WNWLYFIPLIIIGSFFVLNLVLGVLSGEFA | 355 |
CACNA1F | FFFAMLTVFQCVTMEGWTDVLYWMQDAMGY>E<LPWVYFVSLVIFGSFFVLNLVLGVLSGEFS | 376 |
CACNA1G | IGYAWIAIFQVITLEGWVDIMYFVMDAHSF>-<YNFIYFILLIIVGSFFMINLCLVVIATQFS | 399 |
CACNA1H | IGYAWIAIFQVITLEGWVDIMYYVMDAHSF>-<YNFIYFILLIIVGSFFMINLCLVVIATQFS | 423 |
CACNA1I | IGYAWIVIFQVITLEGWVEIMYYVMDAHSF>-<YNFIYFILLIIVGSFFMINLCLVVIATQFS | 402 |
CACNA1S | FGFSMLTVYQCITMEGWTDVLYWVNDAIGN>E<WPWIYFVTLILLGSFFILNLVLGVLSGEFT | 338 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I388S | c.1163T>G | Putative Benign | SIFT: Polyphen: |