Paralogue Annotation for RYR1 residue 1337

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1337
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1337

No paralogue variants have been mapped to residue 1337 for RYR1.

RYR1	TPLAPPGLQPPAEDEARAAEPDPDYENLRR>S<AGGWSEAENGKEGTAKEGAPGGTPQAGGEA	1367
RYR2	GGLPGAGLFGPK-NDLEDYDADSDFEVLMK>T<AHGHLVPDRVDKDKEATKPEFNNHK-----	1374
RYR3	------------------------------>-<------------------------------
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1337L	c.4010C>T	Putative Benign		rs376532452	SIFT: deleterious Polyphen: possibly damaging