Paralogue Annotation for SCN5A residue 673

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 673
Reference Amino Acid: L - Leucine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 673

No paralogue variants have been mapped to residue 673 for SCN5A.



SCN5AVD-GFEEPGARQR-A-LSAVSVLTSA---->L<-EELE-ESR---------------------680
SCN1AMD-FLEDPSQRQR-A-MSIASILTNT---->V<-EELE-ESR---------------------731
SCN2AMD-LLEDPTSRQR-A-MSIASILTNT---->M<-EELE-ESR---------------------722
SCN3AME-MLEDSSGRQR-A-VSIASILTNT---->M<-EELE-ESR---------------------723
SCN4A---E---KGAPRQ-S-SSGDSGISDA---->M<-EELE-EAH---------------------541
SCN7ALD-VLEDATLRHK----------------->-<-EELE-KSK---------------------468
SCN8AMD-QLASYGRKDR-I-NSIMSVVTNTL--->V<-EELE-ESQ---------------------716
SCN9AED-MLNDPNLRQR-A-MSRASILTNT---->V<-EELE-ESR---------------------696
SCN10AAE-YLDEPFRAQR-A-MSVVSIITSV---->L<-EELE-ESE---------------------628
SCN11AFD-EHGDPLQRQR-A-LSAVSILTIT---->M<-KEQE-KSQ---------------------540
CACNA1AED-QLA----DIA-S-VG------------>-<------------------------------450
CACNA1BED-RFA----DLC-A-VG------------>-<------------------------------446
CACNA1CAG-G-D----IEGEN-CG------------>-<------------------------------490
CACNA1DSG-EGE----NRG-C-CGSLWCWWR----->-<-RRGA-AKA---------------------504
CACNA1EDE-HCV----DIS-S-VG------------>-<------------------------------439
CACNA1FSSHASL----P-A-SDTGSMTETQG----->-<-DEDE-EEG---------------------490
CACNA1GPD-SCP----YCA-R-AG-----AG----->E<VELADREMP-DSDSEAVYEFTQDAQHSDLR706
CACNA1HLK-SCP----YCT-R-AL-----ED-P--->E<GELSGSESG-DSDGRGVYEFTQDVRHGDRW740
CACNA1IPA-SCP----CCQ-H-ED-----GR-RPSG>L<GS---TDSGQEGSGSGSSAGGEDE-A---D590
CACNA1S------------------------------>-<-------AG---------------------403
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.L673Pc.2018T>C Inherited ArrhythmiaLQTSSIFT: deleterious
Polyphen: benign
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