Paralogue Annotation for RYR1 residue 1344

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1344
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1344

No paralogue variants have been mapped to residue 1344 for RYR1.

RYR1	LQPPAEDEARAAEPDPDYENLRRSAGGWSE>A<ENGKEGTAKEGAPGGTPQAGGEAQPARAEN	1374
RYR2	LFGPK-NDLEDYDADSDFEVLMKTAHGHLV>P<DRVDKDKEATKPEFNNHK------------	1374
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A1344T	c.4030G>A	Putative Benign			SIFT: Polyphen: