Paralogue Annotation for SCN5A residue 616

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 616
Reference Amino Acid: S - Serine
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 616

No paralogue variants have been mapped to residue 616 for SCN5A.

SCN5A	----DCNGVVSLLG-AGD----PEAT-SPG>S<HLLRP-------------VMLEHPP--DTT	631
SCN1A	HSTVDCNGVVSLVG-G-P----SVPT-SPV>G<QLLPE-------------VIIDKPATDDNG	682
SCN2A	HSAVDCNGVVSLVG-G-P----STLT-SA->G<QLLPE------------------------G	673
SCN3A	HSTVDCNGVVSLVG-G-P----SALT-SPT>G<QLPPE------------------------G	674
SCN4A	----DCNGSLDTSQ-G-------------->-<------------------------------	515
SCN7A	------------------------------>-<------------------------------
SCN8A	NSTVDCNGVVSLIG-G-P----GSHI---G>G<RLLPE------------------------A	667
SCN9A	HSAVDCNGVVSLVD-G-R----SALM-LPN>G<QLLPE-------------G-----------	648
SCN10A	-----------SRH-G-E----DEHQPPPT>-<SELAP----------------------GAV	582
SCN11A	----DCQKKPQLLE-Q-------------->-<---T--------------------------	498
CACNA1A	------------------------------>-<------------------------------
CACNA1B	------------------------------>-<------------------------------
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	------------------------------>-<------------------------------
CACNA1F	------------------------------>-<------------------------------
CACNA1G	VEVAASSGPPTLTSL-NI----PPGPY-SS>M<HKLLETQSTGACQS-----SC--KISSPCL	655
CACNA1H	GPKGKWAGGPPGTGGHGPLSLNSPDPY-EK>I<PHVVGEHGLGQAPGHLSGLSV--PCPLPSP	688
CACNA1I	----TLAS---------------------->-<------------------------------	548
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S616N	c.1847G>A	Putative Benign			SIFT: Polyphen: