Paralogue Annotation for RYR1 residue 2721

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2721
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2721

No paralogue variants have been mapped to residue 2721 for RYR1.

RYR1	YDPELYRMAMPCLCAIAGALPPDYVDASYS>S<KAEKKATVDAEGNFDPRPVETLNVIIPEKL	2751
RYR2	YEQELFKLALPCLSAVAGALPPDYMESNYV>S<MMEKQSSMDSEGNFNPQPVDTSNITIPEKL	2717
RYR3	YDPDLFRMALPCLSAIAGALPPDYLDTRIT>A<TLEKQISVDADGNFDPKPINTMNFSLPEKL	2614
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2721P	c.8161T>C	Putative Benign			SIFT: Polyphen:
p.S2721F	c.8162C>T	Putative Benign			SIFT: Polyphen: