Paralogue Annotation for SCN5A residue 1897

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 1897
Reference Amino Acid: R - Arginine
Protein Domain: C-terminus


Paralogue Variants mapped to SCN5A residue 1897

No paralogue variants have been mapped to residue 1897 for SCN5A.



SCN5ALKIQMEEKFMA---ANP-SKISYEPITTTL>R<RKHEEVS----AMVIQRAF-RRHLLQRS--1920
SCN1ALRIQMEERFMA---SNP-SKVSYQPITTTL>K<RKQEEVS----AVIIQRAY-RRHLLKRT--1934
SCN2ALRIQMEERFMA---SNP-SKVSYEPITTTL>K<RKQEEVS----AIIIQRAY-RRYLLKQK--1924
SCN3ALRIQMEDRFMA---SNP-SKVSYEPITTTL>K<RKQEEVS----AAIIQRNF-RCYLLKQR--1919
SCN4ALKQTMEEKFMA---ANP-SKVSYEPITTTL>K<RKHEEVC----AIKIQRAY-RRHLLQRS--1746
SCN7AVVSEIESGFLL---ANP-FKITCEPITTTL>K<RKQEAVS----ATIIQRAY-KNYRLRRN--1644
SCN8ALRQQMEERFVA---SNP-SKVSYEPITTTL>R<RKQEEVS----AVVLQRAY-RGHLARRG--1914
SCN9ALRSQMEERFMS---ANP-SKVSYEPITTTL>K<RKQEDVS----ATVIQRAY-RRYRLRQN--1897
SCN10ALKANMEEKFMA---TNL-SKSSYEPIATTL>R<WKQEDIS----ATVIQKAY-RSYVLHRS--1870
SCN11AMKAMMEEKFME---ANP-LKKLYEPIVTTT>K<RKEEERG----AAIIQKAF-RKYMMKVT--1752
CACNA1AMDAELRKEMMAIW-PNL-SQKTLDLLVTPH>K<STDLTVGKIYAAMMIMEYY-RQSKAKK--L1974
CACNA1BCDAELRKEISVVW-ANL-PQKTLDLLVPPH>K<PDEMTVGKVYAALMIFDFY-KQNKTTRDQM1875
CACNA1CANEELRAIIKKIW-KRT-SMKLLDQVVPPA>G<DDEVTVGKFYATFLIQEYF-RKFKKRKE--1636
CACNA1DANEELRAVIKKIW-KKT-SMKLLDQVVPPA>G<DDEVTVGKFYATFLIQDYF-RKFKKRKE--1644
CACNA1ELDSELQKETLAIW-PHL-SQKMLDLLVPMP>K<ASDLTVGKIYAAMMIMDYY-KQSKVKKQ--1886
CACNA1FANQELRIVIKKIW-KRM-KQKLLDEVIPPP>D<EEEVTVGKFYATFLIQDYF-RKFRRRKE--1601
CACNA1GGSLEWELKLMDEL-AGPGGQPSAFPSAPSL>G<GSDP-----QIPLAEMEAL-SLTSEIVS--1992
CACNA1H---SVSRML-SLPNDSYM----FRPVVPAS>A<PHPR-----PLQEVEMETYGAGTPLGSV--1965
CACNA1I---EGELTIIDNL-SGSI----FHHYSSPA>G<CKKCHHDKQEVQLAETEAF-SLNSDRSS--1864
CACNA1SANEELRAIIKKIW-KRT-SMKLLDQVIPPI>G<DDEVTVGKFYATFLIQEHF-RKFMKRQE--1541
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.R1897Wc.5689C>T Inherited ArrhythmiaLQTS,AFSIFT: tolerated
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
Inherited ArrhythmiaLQTS A map of human genome variation from population-scale sequencing. Nature. 2010 467(7319):1061-73. 20981092
Inherited ArrhythmiaAF High prevalence of long QT syndrome-associated SCN5A variants in patients with early-onset lone atrial fibrillation. Circ Cardiovasc Genet. 2012 5(4):450-9. doi: 10.1161/CIRCGENETICS.111.962597. 22685113
Inherited ArrhythmiaLQTS An informatics approach to analyzing the incidentalome. Genet Med. 2013 15(1):36-44. doi: 10.1038/gim.2012.112. 22995991
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
Inherited ArrhythmiaLQTS Rare genetic variants previously associated with congenital forms of long QT syndrome have little or no effect on the QT interval. Eur Heart J. 2015 36(37):2523-9. doi: 10.1093/eurheartj/ehv297. 26159999
Inherited ArrhythmiaLQTS Identification of Medically Actionable Secondary Findings in the 1000 Genomes. PLoS One. 2015 10(9):e0135193. doi: 10.1371/journal.pone.0135193. 26332594
p.R1897Qc.5690G>A Putative BenignSIFT:
Polyphen: