Paralogue Annotation for SCN5A residue 1832

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1832
Reference Amino Acid: Q - Glutamine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1832

No paralogue variants have been mapped to residue 1832 for SCN5A.



SCN5ATQFIEYSVLSDFADALSEPLR--IAK--PN>Q<I---SLINMDLPMVSGD-RIHCMDILFAFT1858
SCN1ATQFMEFEKLSQFAAALEPPLN--LPQ--PN>K<L---QLIAMDLPMVSGD-RIHCLDILFAFT1872
SCN2ATQFIEFAKLSDFADALDPPLL--IAK--PN>K<V---QLIAMDLPMVSGD-RIHCLDILFAFT1862
SCN3ATQFIEFSKLSDFAAALDPPLL--IAK--PN>K<V---QLIAMDLPMVSGD-RIHCLDILFAFT1857
SCN4ATQFIAYSRLSDFVDTLQEPLR--IAK--PN>K<I---KLITLDLPMVPGD-KIHCLDILFALT1684
SCN7ATQYIDSSKLSDFAAALDPPLF--MAK--PN>K<G---QLIALDLPMAVGD-RIHCLDILLAFT1582
SCN8ATQFIEYCKLADFADALEHPLR--VPK--PN>T<I---ELIAMDLPMVSGD-RIHCLDILFAFT1852
SCN9ATQFIEFSKLSDFAAALDPPLL--IAK--PN>K<V---QLIAMDLPMVSGD-RIHCLDILFAFT1835
SCN10ATQFITFSALSDFADTLSGPLR--IPK--PN>R<N---ILIQMDLPLVPGD-KIHCLDILFAFT1808
SCN11ATQFIKYSALSDFADALPEPLR--VAK--PN>K<Y---QFLVMDLPMVSED-RLHCMDILFAFT1690
CACNA1ACGRIHYKDMYSLLRVISPPLG--LGKKCPH>R<VACKRLLRMDLPVADD-NTVHFNSTLMALI1901
CACNA1BCGRISYNDMFEMLKHMSPPLG--LGKKCPA>R<VAYKRLVRMNMPISNEDMTVHFTSTLMALI1800
CACNA1CKGRIKHLDVVTLLRRIQPPLG--FGKLCPH>R<VACKRLVSMNMPLNSDG-TVMFNATLFALV1566
CACNA1DKGRIKHLDVVTLLRRIQPPLG--FGKLCPH>R<VACKRLVAMNMPLNSDG-TVMFNATLFALV1574
CACNA1ECGRIHYTEMYEMLTLMSPPLG--LGKRCPS>K<VAYKRLVLMNMPVAED-MTVHFTSTLMALI1813
CACNA1FKGRIKHLDVVALLRRIQPPLG--FGKLCPH>R<VACKRLVAMNMPLNSDG-TVTFNATLFALV1531
CACNA1GQPHSPLGSPF-LWPGVEGPDS--PDSPKPG>A<L---------HPAAHA-RSASHFSLEHPTD1928
CACNA1HARRVDADRP---------PLP--QESPG-->A<R--------DAPN---------------LV1915
CACNA1IGPRLPTGSPGAPGR---GPGGAGGGGDT-->E<G---GLCRRCYSPAQE-N--LWLDSVSLII1810
CACNA1SKGRIKHLDVVTLLRRIQPPLG--FGKFCPH>R<VACKRLVGMNMPLNSDG-TVTFNATLFALV1471
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q1832Ec.5494C>G Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: benign
ReportsInherited ArrhythmiaBrS Gene symbol: SCN5A. Disease: Brugada syndrome. Hum Genet. 2005 118(3-4):536. 16521247
Inherited ArrhythmiaBrS 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 ArrhythmiaBrS High prevalence of genetic variants previously associated with Brugada syndrome in new exome data. Clin Genet. 2013 23414114
Other Disease Phenotype Genetic and forensic implications in epilepsy and cardiac arrhythmias: a case series. Int J Legal Med. 2014 25119684