Paralogue Annotation for SCN5A residue 912

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 912
Reference Amino Acid: Q - Glutamine
Protein Domain: TM Domain 2


Paralogue Variants mapped to SCN5A residue 912

No paralogue variants have been mapped to residue 912 for SCN5A.



SCN5AFLIIFRILCGE-WIETMWDCMEV-----SG>Q<SLCLLVFLLVMVIGNLVVLNLFLALLLSSF942
SCN1AFLIVFRVLCGE-WIETMWDCMEV-----AG>Q<AMCLTVFMMVMVIGNLVVLNLFLALLLSSF995
SCN2AFLIVFRVLCGE-WIETMWDCMEV-----AG>Q<TMCLTVFMMVMVIGNLVVLNLFLALLLSSF986
SCN3AFLIVFRVLCGE-WIETMWDCMEV-----AG>Q<TMCLIVFMLVMVIGNLVVLNLFLALLLSSF987
SCN4AFLIVFRILCGE-WIETMWDCMEV-----AG>Q<AMCLTVFLMVMVIGNLVVLNLFLALLLSSF805
SCN7AFLNVFRILCGE-WVETLWDCMEV-----AG>Q<SWCIPFYLMVILIGNLLVLYLFLA-LVSSF731
SCN8AFLIVFRVLCGE-WIETMWDCMEV-----AG>Q<AMCLIVFMMVMVIGNLVVLNLFLALLLSSF980
SCN9AFLIVFRVLCGE-WIETMWDCMEV-----AG>Q<AMCLIVYMMVMVIGNLVVLNLFLALLLSSF960
SCN10AFLIVFRILCGE-WIENMWACMEV-----GQ>K<SICLILFLTVMVLGNLVVLNLFIALLLNSF893
SCN11AFLVVFRILCGE-WIENMWECMQEAN---AS>S<SLCVIVFILITVIGKLVVLNLFIALLLNSF814
CACNA1AIMTVFQILTGEDWNEVMYDGIKSQGGV-QG>G<MVFSIYFIVLTLFGNYTLLNVFLAIAVDNL717
CACNA1BILTVFQILTGEDWNAVMYHGIESQGGV-SK>G<MFSSFYFIVLTLFGNYTLLNVFLAIAVDNL713
CACNA1CLLTVFQILTGEDWNSVMYDGIMAYGGPSFP>G<MLVCIYFIILFICGNYILLNVFLAIAVDNL756
CACNA1DLLTVFQILTGEDWNAVMYDGIMAYGGPSSS>G<MIVCIYFIILFICGNYILLNVFLAIAVDNL775
CACNA1EIMTVFQILTGEDWNEVMYNGIRSQGGV-SS>G<MWSAIYFIVLTLFGNYTLLNVFLAIAVDNL706
CACNA1FLLTVFQILTGEDWNVVMYDGIMAYGGPFFP>G<MLVCIYFIILFICGNYILLNVFLAIAVDNL761
CACNA1GIVTVFQILTQEDWNKVLYNGMAS-T-S--->-<SWAALYFIALMTFGNYVLFNLLVAILVEGF967
CACNA1HIVTVFQILTQEDWNVVLYNGMAS-T-S--->-<SWAALYFVALMTFGNYVLFNLLVAILVEGF1018
CACNA1IIVTVFQILTQEDWNVVLYNGMAS-T-S--->-<PWASLYFVALMTFGNYVLFNLLVAILVEGF865
CACNA1SLISVFQVLTGEDWTSMMYNGIMAYGGPSYP>G<MLVCIYFIILFVCGNYILLNVFLAIAVDNL664
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q912Rc.2735A>G Inherited ArrhythmiaLQTSSIFT:
Polyphen:
ReportsInherited 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