Paralogue Annotation for SCN5A residue 1954

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1954
Reference Amino Acid: E - Glutamate
Protein Domain: C-terminus

Paralogue Variants mapped to SCN5A residue 1954

No paralogue variants have been mapped to residue 1954 for SCN5A.

SCN5A	-----------------------------S>E<------------------------------	1954
SCN1A	-----------------------------N>E<------------------------------	1966
SCN2A	-----------------------------N>E<------------------------------	1956
SCN3A	-----------------------------N>G<------------------------------	1951
SCN4A	-----------------GHE---------N>G<------------------------------	1785
SCN7A	-----------------------------K>E<------------------------------	1674
SCN8A	-----------------------------N>G<------------------------------	1928
SCN9A	-----------------------------N>E<------------------------------	1928
SCN10A	-----------------------------N>E<------------------------------	1901
SCN11A	-----------------------------N>G<------------------------------	1765
CACNA1A	---QNALPS-TQLDPGGALM---AHESGLK>E<SPSWVTQRAQEMFQKTGTWSPEQGPPTDMP	2057
CACNA1B	LR-QKS--S-TSLSNGGAIQ---NQESGIK>E<SVSWGTQRTQDAPHEA-RPPLERGHSTEIP	1965
CACNA1C	---ISG----DLTAEEE-LD-K-AMKEAVS>A<------------------------------	1689
CACNA1D	---ISC----DLQDDEP-EE-----TKR-->-<------------------------------	1692
CACNA1E	---AKALPY-LQQDPVSGL-------SGRS>G<YPSMSPLSPQDIFQLACMDPADDGQFQERQ	1964
CACNA1F	---LTC----DTEEEEE-EG-----QEGVE>E<------------------------------	1652
CACNA1G	-DDMHTLLLSALESN-MQPH---PTELPGP>D<LLTVRKSGVSRTHSLPNDSYMCRHGSTAEG	2062
CACNA1H	GTARSPSLSRLLCRQ-EAVH---TDSLEGK>I<DSPRDTLDPAEPGEKTPVRPVTQGGSLQSP	2058
CACNA1I	PMRVGDLGECFFPLS-STAVSPDPENFLCE>M<EEIPFNPVRSWLKHDSSQAPPSPFSPDASS	1955
CACNA1S	---VSG----DLAAEEE-LE-----RAMVE>A<------------------------------	1591
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E1954K	c.5860G>A	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Results of genetic testing in 855 consecutive unrelated patients referred for long QT syndrome in a clinical laboratory. Genet Test Mol Biomarkers. 2013 17(7):553-61. doi: 10.1089/gtmb.2012.0118. 23631430