Paralogue Annotation for SCN5A residue 638

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 638
Reference Amino Acid: G - Glycine
Protein Domain: Interdomain Linker I-II


Paralogue Variants mapped to SCN5A residue 638

No paralogue variants have been mapped to residue 638 for SCN5A.



SCN5A------------VMLEHPP--DTTTPSEEP>G<GPQMLTSQAPCVD-GFEEPGARQR-A-LSA665
SCN1A------------VIIDKPATDDNGTTTETE>M<RKRRSSSFHVSMD-FLEDPSQRQR-A-MSI716
SCN2A-----------------------GTTTETE>I<RKRRSSSYHVSMD-LLEDPTSRQR-A-MSI707
SCN3A-----------------------GTTTETE>V<RKRRLSSYQISME-MLEDSSGRQR-A-VSI708
SCN4A------------------------------>-<--------------E---KGAPRQ-S-SSG526
SCN7A-------------------------TIQIE>M<KKRSPISTDTSLD-VLEDATLRHK------461
SCN8A-----------------------A-TTEVE>I<KKKGPGSLLVSMD-QLASYGRKDR-I-NSI700
SCN9A------------G-----------TTNQIH>-<KKRRCSSYLLSED-MLNDPNLRQR-A-MSR681
SCN10A---------------------GAVDVSAFD>-<--AGQKKTFLSAE-YLDEPFRAQR-A-MSV613
SCN11A------------------------------>-<KRLSQNLSLDHFD-EHGDPLQRQR-A-LSA525
CACNA1A------------------------D----->-<----LLNPEEAED-QLA----DIA-S-VG-450
CACNA1B------------------------D----->-<----LIHAEEGED-RFA----DLC-A-VG-446
CACNA1C------------------------E----->-<----SVNTENVAG-G-D----IEGEN-CG-490
CACNA1D------------------------E----->-<----SVNTENVSG-EGE----NRG-C-CGS491
CACNA1E------------------------E----->-<----AMTRDSSDE-HCV----DIS-S-VG-439
CACNA1F------------------------T----->-<----RS-THSTSSHASL----P-A-SDTGS477
CACNA1GQSTGACQS-----SC--KISSPCLK----->-<----ADSGACGPD-SCP----YCA-R-AG-674
CACNA1HHGLGQAPGHLSGLSV--PCPLPSPP----->-<----AGTLTCELK-SCP----YCT-R-AL-707
CACNA1I------------------------------>-<----------DPA-SCP----CCQ-H-ED-560
CACNA1S------------------------E----->-<----SLY-EI--------------------401
cons                              > <                              

See full Alignment of Paralogues


Known Variants in SCN5A

ProteinCDSDisease ClassificationDiseasedbSNP linksEffect Prediction
p.G638Dc.1913G>A Putative Benignrs199473578SIFT: tolerated
Polyphen: benign
ReportsPutative 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