Paralogue Annotation for RYR1 residue 2738

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2738
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2738

No paralogue variants have been mapped to residue 2738 for RYR1.

RYR1	GALPPDYVDASYSSKAEKKATVDAEGNFDP>R<PVETLNVIIPEKLDSFINKFAEYTHEKWAF	2768
RYR2	GALPPDYMESNYVSMMEKQSSMDSEGNFNP>Q<PVDTSNITIPEKLEYFINKYAEHSHDKWSM	2734
RYR3	GALPPDYLDTRITATLEKQISVDADGNFDP>K<PINTMNFSLPEKLEYIVTKYAEHSHDKWAC	2631
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R2738G	c.8212C>G	Putative Benign			SIFT: Polyphen:
p.R2738Q	c.8213G>A	Putative Benign			SIFT: Polyphen: