No paralogue variants have been mapped to residue 247 for SCN5A.
SCN5A | ALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLADVMVLTVFCLSVFALIGLQLFMGNLR | 277 |
SCN1A | ALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR | 274 |
SCN2A | ALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR | 275 |
SCN3A | ALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR | 274 |
SCN4A | ALRTFRVLRALKTITVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALVGLQLFMGNLR | 277 |
SCN7A | TLQTARTLRILKIIPLNQGLKSLVGVLIHC>L<KQLIGVIILTLFFLSIFSLIGMGLFMGNLK | 264 |
SCN8A | ALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLR | 278 |
SCN9A | ALRTFRVLRALKTISVIPGLKTIVGALIQS>V<KKLSDVMILTVFCLSVFALIGLQLFMGNLK | 272 |
SCN10A | GLRTFRVLRALKTVSVIPGLKVIVGALIHS>V<KKLADVTILTIFCLSVFALVGLQLFKGNLK | 273 |
SCN11A | PLRTFRVFRALKAISVVSRLKVIVGALLRS>V<KKLVNVIILTFFCLSIFALVGQQLFMGSLN | 280 |
CACNA1A | TLRAVRVLRPLKLVSGIPSLQVVLKSIMKA>M<IPLLQIGLLLFFAILIFAIIGLEFYMGKFH | 253 |
CACNA1B | TLRAVRVLRPLKLVSGIPSLQVVLKSIMKA>M<VPLLQIGLLLFFAILMFAIIGLEFYMGKFH | 250 |
CACNA1C | ALRAFRVLRPLRLVSGVPSLQVVLNSIIKA>M<VPLLHIALLVLFVIIIYAIIGLELFMGKMH | 295 |
CACNA1D | ALRAFRVLRPLRLVSGVPSLQVVLNSIIKA>M<VPLLHIALLVLFVIIIYAIIGLELFIGKMH | 298 |
CACNA1E | TLRAVRVLRPLKLVSGIPSLQIVLKSIMKA>M<VPLLQIGLLLFFAILMFAIIGLEFYSGKLH | 248 |
CACNA1F | ALRAFRVLRPLRLVSGVPSLHIVLNSIMKA>L<VPLLHIALLVLFVIIIYAIIGLELFLGRMH | 264 |
CACNA1G | AVRTVRVLRPLRAINRVPSMRILVTLLLDT>L<PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR | 238 |
CACNA1H | AIRTVRVLRPLRAINRVPSMRILVTLLLDT>L<PMLGNVLLLCFFVFFIFGIVGVQLWAGLLR | 257 |
CACNA1I | AIRTVRVLRPLKAINRVPSMRILVNLLLDT>L<PMLGNVLLLCFFVFFIFGIIGVQLWAGLLR | 236 |
CACNA1S | ALRAFRVLRPLRLVSGVPSLQVVLNSIFKA>M<LPLFHIALLVLFMVIIYAIIGLELFKGKMH | 223 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.V247L | c.739G>C | Inherited Arrhythmia | LQTS | rs199473078 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085 |