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<SPSWVTQRAQEMFQKTGTWSPEQGPPTDMP2057
CACNA1BLR-QKS--S-TSLSNGGAIQ---NQESGIK>E<SVSWGTQRTQDAPHEA-RPPLERGHSTEIP1965
CACNA1C---ISG----DLTAEEE-LD-K-AMKEAVS>A<------------------------------1689
CACNA1D---ISC----DLQDDEP-EE-----TKR-->-<------------------------------1692
CACNA1E---AKALPY-LQQDPVSGL-------SGRS>G<YPSMSPLSPQDIFQLACMDPADDGQFQERQ1964
CACNA1F---LTC----DTEEEEE-EG-----QEGVE>E<------------------------------1652
CACNA1G-DDMHTLLLSALESN-MQPH---PTELPGP>D<LLTVRKSGVSRTHSLPNDSYMCRHGSTAEG2062
CACNA1HGTARSPSLSRLLCRQ-EAVH---TDSLEGK>I<DSPRDTLDPAEPGEKTPVRPVTQGGSLQSP2058
CACNA1IPMRVGDLGECFFPLS-STAVSPDPENFLCE>M<EEIPFNPVRSWLKHDSSQAPPSPFSPDASS1955
CACNA1S---VSG----DLAAEEE-LE-----RAMVE>A<------------------------------1591
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.E1954Kc.5860G>A Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited ArrhythmiaLQTS 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