Paralogue Annotation for SCN5A residue 960

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 960
Reference Amino Acid: Q - Glutamine
Protein Domain: Interdomain Linker II-III


Paralogue Variants mapped to SCN5A residue 960

No paralogue variants have been mapped to residue 960 for SCN5A.



SCN5ALFLALLLSSFS-ADNLTAP-DEDREM-NNL>Q<L-ALARIQRGLRFVK---------------974
SCN1ALFLALLLSSFS-ADNLAAT-DDDNEM-NNL>Q<I-AVDRMHKGVAYVK---------------1027
SCN2ALFLALLLSSFS-SDNLAAT-DDDNEM-NNL>Q<I-AVGRMQKGIDFVK---------------1018
SCN3ALFLALLLSSFS-SDNLAAT-DDDNEM-NNL>Q<I-AVGRMQKGIDYVK---------------1019
SCN4ALFLALLLSSFS-ADSLAAS-DEDGEM-NNL>Q<I-AIGRIKLGIGFAK---------------837
SCN7ALFLA-LVSSFS-SCKDVTA-EENNEA-KNL>Q<L-AVARIKKGINYVL---------------763
SCN8ALFLALLLSSFS-ADNLAAT-DDDGEM-NNL>Q<I-SVIRIKKGVAWTK---------------1012
SCN9ALFLALLLSSFS-SDNLTAI-EEDPDA-NNL>Q<I-AVTRIKKGINYVK---------------992
SCN10ALFIALLLNSFS-ADNLTAP-EDDGEV-NNL>Q<V-ALARIQV---FGH---------------922
SCN11ALFIALLLNSFS-NEERNGNLEGEARK-TKV>Q<L-ALDRFRRAFCFVR---------------847
CACNA1AVFLAIAVDNLANAQELTKDEQEEEEA-ANQ>K<L-ALQKAKEVAEVSPLSAANMS--------758
CACNA1BVFLAIAVDNLANAQELTKDEEEMEEA-ANQ>K<L-ALQKAKEVAEVSPMSAANIS--------754
CACNA1CVFLAIAVDNLADAESLTSAQKEEEEE-KER>K<K-LART---AS-------------------783
CACNA1DVFLAIAVDNLADAESLNTAQKEEAEE-KER>K<K-IARK---ES-------------------802
CACNA1EVFLAIAVDNLANAQELTKDEQEEEEA-FNQ>K<H-ALQKAKEVSPMSAPNMPSIERDRRRRHH755
CACNA1FVFLAIAVDNLASGDA-GTAKDKGGEK-SNE>K<DLPQEN---EG-------------------788
CACNA1GLLVAILVEGFQ-AEEISKREDASGQL-SCI>Q<L-PVDSQGGDANKS------------ESE-1002
CACNA1HLLVAILVEGFQ-AEGDANRSDTDEDKTSVH>F<EEDFHKL-----------------------1045
CACNA1ILLVAILVEGFQAEGDAN-RSYSDEDQSSSN>I<E-EFDKLQE---------------------893
CACNA1SVFLAIAVDNLAEAESLTSAQKAKAEE-KKR>R<K-MSKGLPDKS-------------------694
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.Q960Kc.2878C>A Inherited ArrhythmiaLQTSSIFT: deleterious
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