Paralogue Annotation for SCN5A residue 668

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 668
Reference Amino Acid: V - Valine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 668

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
SCN9A	I684M	Dravet syndrome ?	Low	2	19763161

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in SCN5A.

SCN5A	QMLTSQAPCVD-GFEEPGARQR-A-LSAVS>V<LTSA----L-EELE-ESR------------	680
SCN1A	RRSSSFHVSMD-FLEDPSQRQR-A-MSIAS>I<LTNT----V-EELE-ESR------------	731
SCN2A	RRSSSYHVSMD-LLEDPTSRQR-A-MSIAS>I<LTNT----M-EELE-ESR------------	722
SCN3A	RRLSSYQISME-MLEDSSGRQR-A-VSIAS>I<LTNT----M-EELE-ESR------------	723
SCN4A	------------E---KGAPRQ-S-SSGDS>G<ISDA----M-EELE-EAH------------	541
SCN7A	RSPISTDTSLD-VLEDATLRHK-------->-<----------EELE-KSK------------	468
SCN8A	KGPGSLLVSMD-QLASYGRKDR-I-NSIMS>V<VTNTL---V-EELE-ESQ------------	716
SCN9A	RRCSSYLLSED-MLNDPNLRQR-A-MSRAS>I<LTNT----V-EELE-ESR------------	696
SCN10A	AGQKKTFLSAE-YLDEPFRAQR-A-MSVVS>I<ITSV----L-EELE-ESE------------	628
SCN11A	LSQNLSLDHFD-EHGDPLQRQR-A-LSAVS>I<LTIT----M-KEQE-KSQ------------	540
CACNA1A	--LLNPEEAED-QLA----DIA-S-VG--->-<------------------------------	450
CACNA1B	--LIHAEEGED-RFA----DLC-A-VG--->-<------------------------------	446
CACNA1C	--SVNTENVAG-G-D----IEGEN-CG--->-<------------------------------	490
CACNA1D	--SVNTENVSG-EGE----NRG-C-CGSLW>C<WWR-------RRGA-AKA------------	504
CACNA1E	--AMTRDSSDE-HCV----DIS-S-VG--->-<------------------------------	439
CACNA1F	--RS-THSTSSHASL----P-A-SDTGSMT>E<TQG-------DEDE-EEG------------	490
CACNA1G	--ADSGACGPD-SCP----YCA-R-AG--->-<-AG-----EVELADREMP-DSDSEAVYEFT	697
CACNA1H	--AGTLTCELK-SCP----YCT-R-AL--->-<-ED-P---EGELSGSESG-DSDGRGVYEFT	731
CACNA1I	--------DPA-SCP----CCQ-H-ED--->-<-GR-RPSGLGS---TDSGQEGSGSGSSAGG	585
CACNA1S	--SLY-EI---------------------->-<----------------AG------------	403
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V668I	c.2002G>A	Putative Benign			SIFT: Polyphen: