No paralogue variants have been mapped to residue 1836 for SCN5A.
SCN5A | VLSDFADALSEPLR--IAK--PNQI---SL>I<NMDLPMVSGD-RIHCMDILFAFTKRVLGES | 1865 |
SCN1A | KLSQFAAALEPPLN--LPQ--PNKL---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES | 1879 |
SCN2A | KLSDFADALDPPLL--IAK--PNKV---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES | 1869 |
SCN3A | KLSDFAAALDPPLL--IAK--PNKV---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES | 1864 |
SCN4A | RLSDFVDTLQEPLR--IAK--PNKI---KL>I<TLDLPMVPGD-KIHCLDILFALTKEVLGDS | 1691 |
SCN7A | KLSDFAAALDPPLF--MAK--PNKG---QL>I<ALDLPMAVGD-RIHCLDILLAFTKRVMGQD | 1589 |
SCN8A | KLADFADALEHPLR--VPK--PNTI---EL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGDS | 1859 |
SCN9A | KLSDFAAALDPPLL--IAK--PNKV---QL>I<AMDLPMVSGD-RIHCLDILFAFTKRVLGES | 1842 |
SCN10A | ALSDFADTLSGPLR--IPK--PNRN---IL>I<QMDLPLVPGD-KIHCLDILFAFTKNVLGES | 1815 |
SCN11A | ALSDFADALPEPLR--VAK--PNKY---QF>L<VMDLPMVSED-RLHCMDILFAFTARVLGGS | 1697 |
CACNA1A | DMYSLLRVISPPLG--LGKKCPHRVACKRL>L<RMDLPVADD-NTVHFNSTLMALIRTALDIK | 1908 |
CACNA1B | DMFEMLKHMSPPLG--LGKKCPARVAYKRL>V<RMNMPISNEDMTVHFTSTLMALIRTALEIK | 1807 |
CACNA1C | DVVTLLRRIQPPLG--FGKLCPHRVACKRL>V<SMNMPLNSDG-TVMFNATLFALVRTALRIK | 1573 |
CACNA1D | DVVTLLRRIQPPLG--FGKLCPHRVACKRL>V<AMNMPLNSDG-TVMFNATLFALVRTALKIK | 1581 |
CACNA1E | EMYEMLTLMSPPLG--LGKRCPSKVAYKRL>V<LMNMPVAED-MTVHFTSTLMALIRTALDIK | 1820 |
CACNA1F | DVVALLRRIQPPLG--FGKLCPHRVACKRL>V<AMNMPLNSDG-TVTFNATLFALVRTSLKIK | 1538 |
CACNA1G | SPF-LWPGVEGPDS--PDSPKPGAL----->-<---HPAAHA-RSASHFSLEHPTDRQLFDTI | 1935 |
CACNA1H | RP---------PLP--QESPG--AR----->-<--DAPN---------------LVARKV--- | 1919 |
CACNA1I | SPGAPGR---GPGGAGGGGDT--EG---GL>C<RRCYSPAQE-N--LWLDSVSLIIKDSL--- | 1814 |
CACNA1S | DVVTLLRRIQPPLG--FGKFCPHRVACKRL>V<GMNMPLNSDG-TVTFNATLFALVRTALKIK | 1478 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.I1836T | c.5507T>C | Cardiomyopathy | DCM | rs45563942 | SIFT: deleterious Polyphen: possibly damaging |
Reports | Putative 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 | ||||
Cardiomyopathy | DCM | 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 | |||
Cardiomyopathy | DCM | 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 | ||||
Cardiomyopathy | DCM | Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594 |