No paralogue variants have been mapped to residue 965 for SCN5A.
SCN5A | LSSFS-ADNLTAP-DEDREM-NNLQL-ALA>R<IQRGLRFVK--------------------- | 974 |
SCN1A | LSSFS-ADNLAAT-DDDNEM-NNLQI-AVD>R<MHKGVAYVK--------------------- | 1027 |
SCN2A | LSSFS-SDNLAAT-DDDNEM-NNLQI-AVG>R<MQKGIDFVK--------------------- | 1018 |
SCN3A | LSSFS-SDNLAAT-DDDNEM-NNLQI-AVG>R<MQKGIDYVK--------------------- | 1019 |
SCN4A | LSSFS-ADSLAAS-DEDGEM-NNLQI-AIG>R<IKLGIGFAK--------------------- | 837 |
SCN7A | VSSFS-SCKDVTA-EENNEA-KNLQL-AVA>R<IKKGINYVL--------------------- | 763 |
SCN8A | LSSFS-ADNLAAT-DDDGEM-NNLQI-SVI>R<IKKGVAWTK--------------------- | 1012 |
SCN9A | LSSFS-SDNLTAI-EEDPDA-NNLQI-AVT>R<IKKGINYVK--------------------- | 992 |
SCN10A | LNSFS-ADNLTAP-EDDGEV-NNLQV-ALA>R<IQV---FGH--------------------- | 922 |
SCN11A | LNSFS-NEERNGNLEGEARK-TKVQL-ALD>R<FRRAFCFVR--------------------- | 847 |
CACNA1A | VDNLANAQELTKDEQEEEEA-ANQKL-ALQ>K<AKEVAEVSPLSAANMS-------------- | 758 |
CACNA1B | VDNLANAQELTKDEEEMEEA-ANQKL-ALQ>K<AKEVAEVSPMSAANIS-------------- | 754 |
CACNA1C | VDNLADAESLTSAQKEEEEE-KERKK-LAR>T<---AS------------------------- | 783 |
CACNA1D | VDNLADAESLNTAQKEEAEE-KERKK-IAR>K<---ES------------------------- | 802 |
CACNA1E | VDNLANAQELTKDEQEEEEA-FNQKH-ALQ>K<AKEVSPMSAPNMPSIERDRRRRHHMSMWEP | 761 |
CACNA1F | VDNLASGDA-GTAKDKGGEK-SNEKDLPQE>N<---EG------------------------- | 788 |
CACNA1G | VEGFQ-AEEISKREDASGQL-SCIQL-PVD>S<QGGDANKS------------ESE------- | 1002 |
CACNA1H | VEGFQ-AEGDANRSDTDEDKTSVHFEEDFH>K<L----------------------------- | 1045 |
CACNA1I | VEGFQAEGDAN-RSYSDEDQSSSNIE-EFD>K<LQE--------------------------- | 893 |
CACNA1S | VDNLAEAESLTSAQKAKAEE-KKRRK-MSK>G<LPDKS------------------------- | 694 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.R965C | c.2893C>T | Inherited Arrhythmia | LQTS,BrS | rs199473180 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | 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 Arrhythmia | BrS | Natural history of Brugada syndrome: insights for risk stratification and management. Circulation. 2002 105(11):1342-7. 11901046 | |||
Inherited Arrhythmia | BrS | Distinct functional defect of three novel Brugada syndrome related cardiac sodium channel mutations. J Biomed Sci. 2009 16:23. 19272188 | |||
Inherited Arrhythmia | BrS | 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 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 | |||
Inherited Arrhythmia | LQTS | Clinical characteristics of patients with congenital long QT syndrome and bigenic mutations. Chin Med J (Engl). 2014 127(8):1482-6. 24762593 | |||
p.R965H | c.2894G>A | Inherited Arrhythmia | BrS | rs199473181 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | BrS | Diagnostic value of flecainide testing in unmasking SCN5A-related Brugada syndrome. J Cardiovasc Electrophysiol. 2006 17(8):857-64. 16764707 | ||
Inherited Arrhythmia | BrS | 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 Arrhythmia | BrS | 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 Arrhythmia | BrS | 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.R965L | c.2894G>T | Inherited Arrhythmia | LQTS | rs199473181 | SIFT: deleterious Polyphen: probably damaging |
Reports | Inherited Arrhythmia | LQTS | 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.R965G | c.2893C>G | Putative Benign | SIFT: Polyphen: |