Paralogue Annotation for RYR1 residue 1347

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1347
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1347

No paralogue variants have been mapped to residue 1347 for RYR1.

RYR1	PAEDEARAAEPDPDYENLRRSAGGWSEAEN>G<KEGTAKEGAPGGTPQAGGEAQPARAENEKD	1377
RYR2	PK-NDLEDYDADSDFEVLMKTAHGHLVPDR>V<DKDKEATKPEFNNHK--------------D	1375
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1347S	c.4039G>A	Putative Benign			SIFT: tolerated Polyphen: benign