Paralogue Annotation for SCN5A residue 1958

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1958
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1958

No paralogue variants have been mapped to residue 1958 for SCN5A.

SCN5A	--------------------------NF-S>R<PLG-PPSS----------------------	1965
SCN1A	--------------------------NS-I>-<----TEKT----------------------	1973
SCN2A	--------------------------NS-T>-<----PEKT----------------------	1963
SCN3A	--------------------------NS-T>-<----PEKT----------------------	1958
SCN4A	--------------------------NSSS>-<----PSPE----------------------	1793
SCN7A	------------------------------>-<------------------------------
SCN8A	--------------------------GT-H>-<----REKK----------------------	1935
SCN9A	--------------------------NS-S>-<----PEKT----------------------	1935
SCN10A	--------------------------NC-V>-<--L-PDKS----------------------	1909
SCN11A	--------------------------PH-->-<--S-PLQT----------------------	1772
CACNA1A	VTQRAQEMFQKTGTWSPEQGPPTDMPNSQP>-<NSQSVEMREMGRDG-YSDSEHYLPMEGQGR	2090
CACNA1B	GTQRTQDAPHEA-RPPLERGHSTEIPVGRS>-<GALAVDVQMQSITRRGPDGEPQPGLESQGR	1999
CACNA1C	--------------------------ASED>-<DIFRRAGGLFGNHV-SYYQSDG--------	1714
CACNA1D	--------------------------EEED>-<DVFKRNGALLGNHV-NHVNSDR--------	1717
CACNA1E	SPLSPQDIFQLACMDPADDGQFQERQSLEP>-<EVSELKSVQPSNHG-IYLPSDTQEHAGSGR	1997
CACNA1F	--------------------------EDEK>-<DLETNKATMVSQPS-AR---RG--------	1674
CACNA1G	RKSGVSRTHSLPNDSYMCRHGSTAEGPLGH>-<RGWGLPKA--------------Q----SGS	2078
CACNA1H	DTLDPAEPGEKTPVRPVTQGGSLQSPPRSP>-<RPASVRT--------------RK----HTF	2074
CACNA1I	FNPVRSWLKHDSSQAPPSPFSPDASSPLLP>-<MPAEFFHPAVSASQ-KGPEKGTG----TGT	1984
CACNA1S	--------------------------AMEE>-<GIFRRTGGLFGQVD-NFL--ER--------	1614
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1958Q	c.5873G>A	Inherited Arrhythmia	LQTS	rs199473331	SIFT: tolerated Polyphen: benign
Reports		Inherited Arrhythmia	LQTS	Compendium of cardiac channel mutations in 541 consecutive unrelated patients referred for long QT syndrome genetic testing. Heart Rhythm. 2005 2(5):507-17. 15840476
		Putative Benign		Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
		Putative Benign		An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing. Heart Rhythm. 2010 7(1):33-46. 20129283
		Inherited Arrhythmia	LQTS	High prevalence of genetic variants previously associated with LQT syndrome in new exome data. Eur J Hum Genet. 2012 20(8):905-8. doi: 10.1038/ejhg.2012.23. 22378279
		Unknown		Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381