Paralogue Annotation for SCN5A residue 614

Residue details

Gene: SCN5A
Reference Sequences: LRG: LRG_289, Ensembl variant: ENST00000333535 / ENSP00000328968
Amino Acid Position: 614
Reference Amino Acid: P - Proline
Protein Domain: Interdomain Linker I-II

Paralogue Variants mapped to SCN5A residue 614

No paralogue variants have been mapped to residue 614 for SCN5A.

SCN5A	------DCNGVVSLLG-AGD----PEAT-S>P<GSHLLRP-------------VMLEHPP--D	629
SCN1A	KMHSTVDCNGVVSLVG-G-P----SVPT-S>P<VGQLLPE-------------VIIDKPATDD	680
SCN2A	KMHSAVDCNGVVSLVG-G-P----STLT-S>A<-GQLLPE-----------------------	672
SCN3A	KMHSTVDCNGVVSLVG-G-P----SALT-S>P<TGQLPPE-----------------------	673
SCN4A	K-----DCNGSLDTSQ-G------------>-<------------------------------	515
SCN7A	------------------------------>-<------------------------------
SCN8A	KRNSTVDCNGVVSLIG-G-P----GSHI-->-<GGRLLPE-----------------------	666
SCN9A	KMHSAVDCNGVVSLVD-G-R----SALM-L>P<NGQLLPE-------------G---------	648
SCN10A	-------------SRH-G-E----DEHQPP>P<T-SELAP----------------------G	580
SCN11A	------DCQKKPQLLE-Q------------>-<-----T------------------------	498
CACNA1A	------------------------------>-<------------------------------
CACNA1B	------------------------------>-<------------------------------
CACNA1C	------------------------------>-<------------------------------
CACNA1D	------------------------------>-<------------------------------
CACNA1E	------------------------------>-<------------------------------
CACNA1F	------------------------------>-<------------------------------
CACNA1G	ALVEVAASSGPPTLTSL-NI----PPGPY->S<SMHKLLETQSTGACQS-----SC--KISSP	653
CACNA1H	SPGPKGKWAGGPPGTGGHGPLSLNSPDPY->E<KIPHVVGEHGLGQAPGHLSGLSV--PCPLP	686
CACNA1I	------TLAS-------------------->-<------------------------------	548
CACNA1S	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in SCN5A

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Pro614Ser	c.1840C>T	Unknown			SIFT: Polyphen: