Paralogue Annotation for SCN5A residue 779

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 779
Reference Amino Acid: Q - Glutamine
Protein Domain: TM Domain 2

Paralogue Variants mapped to SCN5A residue 779

No paralogue variants have been mapped to residue 779 for SCN5A.

SCN5A	LQVGNLVFTGIFTAEMTFKIIALDPYYYFQ>Q<GWNIFDSIIVILSLMELGLSRMS-----NL	804
SCN1A	LTVGNLVFTGIFTAEMFLKIIAMDPYYYFQ>E<GWNIFDGFIVTLSLVELGLANVE-----GL	855
SCN2A	LSVGNLVFTGIFTAEMFLKIIAMDPYYYFQ>E<GWNIFDGFIVSLSLMELGLANVE-----GL	846
SCN3A	LTVGNLVFTGIFTAEMVLKIIAMDPYYYFQ>E<GWNIFDGIIVSLSLMELGLSNVE-----GL	847
SCN4A	LTVGNLVFTGIFTAEMVLKLIAMDPYEYFQ>Q<GWNIFDSIIVTLSLVELGLANVQ-----GL	665
SCN7A	LNIGNLVFIGIFTAEMIFKIIAMHPYGYFQ>V<GWNIFDSMIVFHGLIELCLANVA-----GM	592
SCN8A	LAVGNLVFTGIFTAEMFLKLIAMDPYYYFQ>E<GWNIFDGFIVSLSLMELSLADVE-----GL	840
SCN9A	LAIGNLVFTGIFAAEMVLKLIAMDPYEYFQ>V<GWNIFDSLIVTLSLVELFLADVE-----GL	820
SCN10A	LQIGNIVFTIFFTAEMVFKIIAFDPYYYFQ>K<KWNIFDCIIVTVSLLELGVAKKG-----SL	752
SCN11A	LNIGNLVFTSIFIAEMCLKIIALDPYHYFR>R<GWNIFDSIVALLSFADVMNCVLQKR---SW	666
CACNA1A	LYYAEFIFLGLFMSEMFIKMYGLGTRPYFH>S<SFNCFDCGVIIGSIFEVIWAVIKPGTSFGI	579
CACNA1B	LYFAEFVFLGLFLTEMSLKMYGLGPRSYFR>S<SFNCFDFGVIVGSVFEVVWAAIKPGSSFGI	575
CACNA1C	QDTANKALLALFTAEMLLKMYSLGLQAYFV>S<LFNRFDCFVVCGGILETILVETKIMSPLGI	616
CACNA1D	QDIANKVLLALFTCEMLVKMYSLGLQAYFV>S<LFNRFDCFVVCGGITETILVELEIMSPLGI	635
CACNA1E	LYYAEFLFLGLFLLEMSLKMYGMGPRLYFH>S<SFNCFDFGVTVGSIFEVVWAIFRPGTSFGI	568
CACNA1F	QEYANKVLLCLFTVEMLLKLYGLGPSAYVS>S<FFNRFDCFVVCGGILETTLVEVGAMQPLGI	621
CACNA1G	LEISNIVFTSLFALEMLLKLLVYGPFGYIK>N<PYNIFDGVIVVISVWEIVGQQGG-----GL	830
CACNA1H	LEISNIVFTSMFALEMLLKLLACGPLGYIR>N<PYNIFDGIIVVISVWEIVGQADG-----GL	880
CACNA1I	LEICNVVFTSMFALEMILKLAAFGLFDYLR>N<PYNIFDSIIVIISIWEIVGQADG-----GL	727
CACNA1S	QDIANRVLLSLFTTEMLMKMYGLGLRQYFM>S<IFNRFDCFVVCSGILEILLVESGAMTPLGI	524
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q779K	c.2335C>A	Inherited Arrhythmia	LQTS	rs199473583	SIFT: tolerated Polyphen: possibly damaging
Reports		Inherited Arrhythmia	LQTS	Long QT syndrome with compound mutations is associated with a more severe phenotype: a Japanese multicenter study. Heart Rhythm. 2010 7(10):1411-8. 20541041