Paralogue Annotation for SCN5A residue 1090

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1090
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 1090

No paralogue variants have been mapped to residue 1090 for SCN5A.



SCN5A-------------------GGPEAP----->P<DSRTWSQVSATASS------EA--------1106
SCN1A------------------------------>-<------------------------------
SCN2A------------------------------>-<------------------------------
SCN3A------------------------------>-<------------------------------
SCN4A------------------------------>-<------------------------------
SCN7A------------------------------>-<------------------------------
SCN8A------------------------------>-<------------------------------
SCN9A------------------------------>-<------------------------------
SCN10A------------------------------>-<------------------------------
SCN11A------------------------------>-<--------HQENKK------PT--------957
CACNA1AQDLGRQDPPLAEDIDNMKNNKLATAESAAP>H<GSLGHAGLPQSPAKMGNSTDPGPMLAIPAM1113
CACNA1B---------------------------EKE>-<-------ATEKEAEIVEADKEKELR-NHQP1023
CACNA1C------------------------------>E<MPVGPRP-----------------------859
CACNA1D------------------------------>E<VPAGPRP-----------------------865
CACNA1E------------------------------>-<-------MGRVI-------S------QSEP1051
CACNA1F------------------------------>E<EEGAGGV-----------------------830
CACNA1G------------------------------>N<LSKGERV-----------------------1236
CACNA1H------------------------------>E<DSCCLRL-----------------------1254
CACNA1I------------------------------>D<YTLCFRV-----------------------1130
CACNA1S------------------------------>E<IPLSPRP-----------------------758
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.P1090Lc.3269C>T Inherited ArrhythmiaSIFT: tolerated
Polyphen: benign
ReportsPutative Benign Twenty single nucleotide polymorphisms (SNPs) and their allelic frequencies in four genes that are responsible for familial long QT syndrome in the Japanese population. J Hum Genet. 2000 45(3):182-3. 10807545
Inherited ArrhythmiaBrS R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese. J Med Genet. 2005 author reply e8. 15689442
Putative Benign Denaturing high-performance liquid chromatography screening of the long QT syndrome-related cardiac sodium and potassium channel genes and identification of novel mutations and single nucleotide polymorphisms. J Hum Genet. 2005 50(9):490-6. 16155735
Other Cardiac Phenotype Single nucleotide polymorphisms and haplotype of four genes encoding cardiac ion channels in Chinese and their association with arrhythmia. Ann Noninvasive Electrocardiol. 2008 13(2):180-90. 18426444
Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
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
Unknown Common human SCN5A polymorphisms have altered electrophysiology when expressed in Q1077 splice variants. Heart Rhythm. 2005 2(7):741-7. 15992732
Unknown Evaluation of ACMG-Guideline-Based Variant Classification of Cancer Susceptibility and Non-Cancer-Associated Genes in Families Affected by Breast Cancer. Am J Hum Genet. 2016 98(5):801-17. doi: 10.1016/j.ajhg.2016.02.024. 27153395
Inherited ArrhythmiaAF SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab. 2008 93(4):468-74. 18368697
Other Cardiac Phenotype SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab. 2008 93(4):468-74. 18368697
Other Cardiac Phenotype SCN5A variants in Japanese patients with left ventricular noncompaction and arrhythmia. Mol Genet Metab. 2008 93(4):468-74. 18368697