Paralogue Annotation for SCN5A residue 965

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 965
Reference Amino Acid: R - Arginine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 965

No paralogue variants have been mapped to residue 965 for SCN5A.



SCN5ALSSFS-ADNLTAP-DEDREM-NNLQL-ALA>R<IQRGLRFVK---------------------974
SCN1ALSSFS-ADNLAAT-DDDNEM-NNLQI-AVD>R<MHKGVAYVK---------------------1027
SCN2ALSSFS-SDNLAAT-DDDNEM-NNLQI-AVG>R<MQKGIDFVK---------------------1018
SCN3ALSSFS-SDNLAAT-DDDNEM-NNLQI-AVG>R<MQKGIDYVK---------------------1019
SCN4ALSSFS-ADSLAAS-DEDGEM-NNLQI-AIG>R<IKLGIGFAK---------------------837
SCN7AVSSFS-SCKDVTA-EENNEA-KNLQL-AVA>R<IKKGINYVL---------------------763
SCN8ALSSFS-ADNLAAT-DDDGEM-NNLQI-SVI>R<IKKGVAWTK---------------------1012
SCN9ALSSFS-SDNLTAI-EEDPDA-NNLQI-AVT>R<IKKGINYVK---------------------992
SCN10ALNSFS-ADNLTAP-EDDGEV-NNLQV-ALA>R<IQV---FGH---------------------922
SCN11ALNSFS-NEERNGNLEGEARK-TKVQL-ALD>R<FRRAFCFVR---------------------847
CACNA1AVDNLANAQELTKDEQEEEEA-ANQKL-ALQ>K<AKEVAEVSPLSAANMS--------------758
CACNA1BVDNLANAQELTKDEEEMEEA-ANQKL-ALQ>K<AKEVAEVSPMSAANIS--------------754
CACNA1CVDNLADAESLTSAQKEEEEE-KERKK-LAR>T<---AS-------------------------783
CACNA1DVDNLADAESLNTAQKEEAEE-KERKK-IAR>K<---ES-------------------------802
CACNA1EVDNLANAQELTKDEQEEEEA-FNQKH-ALQ>K<AKEVSPMSAPNMPSIERDRRRRHHMSMWEP761
CACNA1FVDNLASGDA-GTAKDKGGEK-SNEKDLPQE>N<---EG-------------------------788
CACNA1GVEGFQ-AEEISKREDASGQL-SCIQL-PVD>S<QGGDANKS------------ESE-------1002
CACNA1HVEGFQ-AEGDANRSDTDEDKTSVHFEEDFH>K<L-----------------------------1045
CACNA1IVEGFQAEGDAN-RSYSDEDQSSSNIE-EFD>K<LQE---------------------------893
CACNA1SVDNLAEAESLTSAQKAKAEE-KKRRK-MSK>G<LPDKS-------------------------694
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R965Cc.2893C>T Inherited ArrhythmiaLQTS,BrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Clinical and genetic heterogeneity of right bundle branch block and ST-segment elevation syndrome: A prospective evaluation of 52 families. Circulation. 2000 102(20):2509-15. 11076825
Inherited ArrhythmiaBrS Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046
Inherited ArrhythmiaBrS Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations. J Biomed Sci. 2009 16:23. 19272188
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 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
Inherited ArrhythmiaLQTS Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations. Chin Med J (Engl). 2014 127(8):1482-6. 24762593
p.R965Hc.2894G>A Inherited ArrhythmiaBrSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaBrS Diagnostic value of flecainide testing in unmasking SCN5A-related Brugada syndrome. J Cardiovasc Electrophysiol. 2006 17(8):857-64. 16764707
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 Brugada syndrome disease phenotype explained in apparently benign sodium channel mutations. Circ Cardiovasc Genet. 2014 7(2):123-31. doi: 10.1161/CIRCGENETICS.113.000292. 24573164
Inherited ArrhythmiaBrS 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
p.R965Lc.2894G>T Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: probably damaging
ReportsInherited ArrhythmiaLQTS Spectrum and prevalence of mutations from the first 2,500 consecutive unrelated patients referred for the FAMILION long QT syndrome genetic test. Heart Rhythm. 2009 6(9):1297-303. 19716085
p.R965Gc.2893C>G Putative BenignSIFT:
Polyphen: