No paralogue variants have been mapped to residue 797 for SCN5A.
SCN5A | KIIALDPYYYFQQGWNIFDSIIVILSLMEL>G<LSRMS-----NLSVLRSFRLLRVFKLAKSW | 822 |
SCN1A | KIIAMDPYYYFQEGWNIFDGFIVTLSLVEL>G<LANVE-----GLSVLRSFRLLRVFKLAKSW | 873 |
SCN2A | KIIAMDPYYYFQEGWNIFDGFIVSLSLMEL>G<LANVE-----GLSVLRSFRLLRVFKLAKSW | 864 |
SCN3A | KIIAMDPYYYFQEGWNIFDGIIVSLSLMEL>G<LSNVE-----GLSVLRSFRLLRVFKLAKSW | 865 |
SCN4A | KLIAMDPYEYFQQGWNIFDSIIVTLSLVEL>G<LANVQ-----GLSVLRSFRLLRVFKLAKSW | 683 |
SCN7A | KIIAMHPYGYFQVGWNIFDSMIVFHGLIEL>C<LANVA-----GMALLRLFRMLRIFKLGKYW | 610 |
SCN8A | KLIAMDPYYYFQEGWNIFDGFIVSLSLMEL>S<LADVE-----GLSVLRSFRLLRVFKLAKSW | 858 |
SCN9A | KLIAMDPYEYFQVGWNIFDSLIVTLSLVEL>F<LADVE-----GLSVLRSFRLLRVFKLAKSW | 838 |
SCN10A | KIIAFDPYYYFQKKWNIFDCIIVTVSLLEL>G<VAKKG-----SLSVLRSFRLLRVFKLAKSW | 770 |
SCN11A | KIIALDPYHYFRRGWNIFDSIVALLSFADV>M<NCVLQKR---SWPFLRSFRVLRVFKLAKSW | 684 |
CACNA1A | KMYGLGTRPYFHSSFNCFDCGVIIGSIFEV>I<WAVIKPGTSFGISVLRALRLLRIFKVTKYW | 597 |
CACNA1B | KMYGLGPRSYFRSSFNCFDFGVIVGSVFEV>V<WAAIKPGSSFGISVLRALRLLRIFKVTKYW | 593 |
CACNA1C | KMYSLGLQAYFVSLFNRFDCFVVCGGILET>I<LVETKIMSPLGISVLRCVRLLRIFKITRYW | 634 |
CACNA1D | KMYSLGLQAYFVSLFNRFDCFVVCGGITET>I<LVELEIMSPLGISVFRCVRLLRIFKVTRHW | 653 |
CACNA1E | KMYGMGPRLYFHSSFNCFDFGVTVGSIFEV>V<WAIFRPGTSFGISVLRALRLLRIFKITKYW | 586 |
CACNA1F | KLYGLGPSAYVSSFFNRFDCFVVCGGILET>T<LVEVGAMQPLGISVLRCVRLLRIFKVTRHW | 639 |
CACNA1G | KLLVYGPFGYIKNPYNIFDGVIVVISVWEI>V<GQQGG-----GLSVLRTFRLMRVLKLVRFL | 848 |
CACNA1H | KLLACGPLGYIRNPYNIFDGIIVVISVWEI>V<GQADG-----GLSVLRTFRLLRVLKLVRFL | 898 |
CACNA1I | KLAAFGLFDYLRNPYNIFDSIIVIISIWEI>V<GQADG-----GLSVLRTFRLLRVLKLVRFM | 745 |
CACNA1S | KMYGLGLRQYFMSIFNRFDCFVVCSGILEI>L<LVESGAMTPLGISVLRCIRLLRIFKITKYW | 542 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.G797V | c.2390G>T | Inherited Arrhythmia | LQTS | SIFT: Polyphen: | |
Reports | Inherited Arrhythmia | LQTS | Asymmetry of parental origin in long QT syndrome: preferential maternal transmission of KCNQ1 variants linked to channel dysfunction. Eur J Hum Genet. 2016 24(8):1160-6. doi: 10.1038/ejhg.2015.257. 26669661 |