Paralogue Annotation for SCN5A residue 709

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 709
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 709

No paralogue variants have been mapped to residue 709 for SCN5A.

SCN5A	-------WNR-LAQRYLIWECCPLWMSIKQ>G<VKLVVMDPFTDLTITMCIVLNTLFMALEHY	739
SCN1A	-------WYK-FSNIFLIWDCSPYWLKVKH>V<VNLVVMDPFVDLAITICIVLNTLFMAMEHY	790
SCN2A	-------WYK-FANMCLIWDCCKPWLKVKH>L<VNLVVMDPFVDLAITICIVLNTLFMAMEHY	781
SCN3A	-------WYR-FANVFLIWDCCDAWLKVKH>L<VNLIVMDPFVDLAITICIVLNTLFMAMEHY	782
SCN4A	-------WYK-CAHKVLIWNCCAPWLKFKN>I<IHLIVMDPFVDLGITICIVLNTLFMAMEHY	600
SCN7A	-------WYK-FAKTFLIWNCSPCWLKLKE>F<VHRIIMAPFTDLFLIICIILNVCFLTLEHY	527
SCN8A	-------WYK-FANTFLIWECHPYWIKLKE>I<VNLIVMDPFVDLAITICIVLNTLFMAMEHH	775
SCN9A	-------WYR-FAHKFLIWNCSPYWIKFKK>C<IYFIVMDPFVDLAITICIVLNTLFMAMEHH	755
SCN10A	-------LTS-LSQKYLIWDCCPMWVKLKT>I<LFGLVTDPFAELTITLCIVVNTIFMAMEHH	687
SCN11A	-------GEN-LASKYLVWNCCPQWLCVKK>V<LRTVMTDPFTELAITICIIINTVFLAMEHH	599
CACNA1A	-------SIK-SAKLENSTFFHKKERRMRF>Y<IRRMVKTQAFYWTVLSLVALNTLCVAIVHY	509
CACNA1B	-------SLK-SGKTESSSYFRRKEKMFRF>F<IRRMVKAQSFYWVVLCVVALNTLCVAMVHY	505
CACNA1C	-------AHR-ISKSKFSRYWRRWNRFCRR>K<CRAAVKSNVFYWLVIFLVFLNTLTIASEHY	546
CACNA1D	-------GQA-ISKSKLSRRWRRWNRFNRR>R<CRAAVKSVTFYWLVIVLVFLNTLTISSEHY	565
CACNA1E	-------SIK-SAKVDGVSYFRHKERLLRI>S<IRHMVKSQVFYWIVLSLVALNTACVAIVHH	498
CACNA1F	-------LNK-IMKTRVCRRLRRANRVLRA>R<CRRAVKSNACYWAVLLLVFLNTLTIASEHH	551
CACNA1G	----------SLGPDAEPSSVLAFWRLICD>T<FRKIVDSKYFGRGIMIAILVNTLSMGIEYH	765
CACNA1H	PGSPQRRAQQRAAPGE-PGWMGRLWVTFSG>K<LRRIVDSKYFSRGIMMAILVNTLSMGVEYH	815
CACNA1I	G--KEEEEEE-QADGA-VWLCGDVWRETRA>K<LRGIVDSKYFNRGIMMAILVNTVSMGIEHH	662
CACNA1S	-------LNK-I--IQFIRHWRQWNRIFRW>K<CHDIVKSKVFYWLVILIVALNTLSIASEHH	454
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G709V	c.2126G>T	Inherited Arrhythmia	LQTS	rs199473581	SIFT: tolerated Polyphen: benign
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