Paralogue Annotation for SCN5A residue 1836

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1836
Reference Amino Acid: I - Isoleucine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1836

No paralogue variants have been mapped to residue 1836 for SCN5A.



SCN5AVLSDFADALSEPLR--IAK--PNQI---SL>I<NMDLPMVSGD-RIHCMDILFAFTKRVLGES1865
SCN1AKLSQFAAALEPPLN--LPQ--PNKL---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES1879
SCN2AKLSDFADALDPPLL--IAK--PNKV---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES1869
SCN3AKLSDFAAALDPPLL--IAK--PNKV---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES1864
SCN4ARLSDFVDTLQEPLR--IAK--PNKI---KL>I<TLDLPMVPGD-KIHCLDILFALTKEVLGDS1691
SCN7AKLSDFAAALDPPLF--MAK--PNKG---QL>I<ALDLPMAVGD-RIHCLDILLAFTKRVMGQD1589
SCN8AKLADFADALEHPLR--VPK--PNTI---EL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGDS1859
SCN9AKLSDFAAALDPPLL--IAK--PNKV---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES1842
SCN10AALSDFADTLSGPLR--IPK--PNRN---IL>I<QMDLPLVPGD-KIHCLDILFAFTKNVLGES1815
SCN11AALSDFADALPEPLR--VAK--PNKY---QF>L<VMDLPMVSED-RLHCMDILFAFTARVLGGS1697
CACNA1ADMYSLLRVISPPLG--LGKKCPHRVACKRL>L<RMDLPVADD-NTVHFNSTLMALIRTALDIK1908
CACNA1BDMFEMLKHMSPPLG--LGKKCPARVAYKRL>V<RMNMPISNEDMTVHFTSTLMALIRTALEIK1807
CACNA1CDVVTLLRRIQPPLG--FGKLCPHRVACKRL>V<SMNMPLNSDG-TVMFNATLFALVRTALRIK1573
CACNA1DDVVTLLRRIQPPLG--FGKLCPHRVACKRL>V<AMNMPLNSDG-TVMFNATLFALVRTALKIK1581
CACNA1EEMYEMLTLMSPPLG--LGKRCPSKVAYKRL>V<LMNMPVAED-MTVHFTSTLMALIRTALDIK1820
CACNA1FDVVALLRRIQPPLG--FGKLCPHRVACKRL>V<AMNMPLNSDG-TVTFNATLFALVRTSLKIK1538
CACNA1GSPF-LWPGVEGPDS--PDSPKPGAL----->-<---HPAAHA-RSASHFSLEHPTDRQLFDTI1935
CACNA1HRP---------PLP--QESPG--AR----->-<--DAPN---------------LVARKV---1919
CACNA1ISPGAPGR---GPGGAGGGGDT--EG---GL>C<RRCYSPAQE-N--LWLDSVSLIIKDSL---1814
CACNA1SDVVTLLRRIQPPLG--FGKFCPHRVACKRL>V<GMNMPLNSDG-TVTFNATLFALVRTALKIK1478
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.I1836Tc.5507T>C CardiomyopathyDCMSIFT: deleterious
Polyphen: possibly damaging
ReportsPutative Benign Genetic testing for long-QT syndrome: distinguishing pathogenic mutations from benign variants. Circulation. 2009 120(18):1752-60. 19841300
Putative 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
CardiomyopathyDCM Coding sequence mutations identified in MYH7, TNNT2, SCN5A, CSRP3, LBD3, and TCAP from 313 patients with familial or idiopathic dilated cardiomyopathy. Clin Transl Sci. 2008 1(1):21-6. 19412328
CardiomyopathyDCM Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet. 2013 93(4):631-40. doi: 10.1016/j.ajhg.2013.08.006. 24055113
Unknown Actionable exomic incidental findings in 6503 participants: challenges of variant classification. Genome Res. 2015 25(3):305-15. doi: 10.1101/gr.183483.114. 25637381
CardiomyopathyDCM Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594