Paralogue Annotation for RYR1 residue 2571

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2571
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2571

No paralogue variants have been mapped to residue 2571 for RYR1.

RYR1	FSTTEMALALNRYLCLAVLPLITKCAPLFA>G<TEHRAIMVDSMLHTVYRLSRGRSLTKAQRD	2601
RYR2	LSATDMALALNRYLCTAVLPLLTRCAPLFA>G<TEHHASLIDSLLHTVYRLSKGCSLTKAQRD	2567
RYR3	LSTTEAALALNRYICSAVLPLLTRCAPLFA>G<TEHCTSLIDSTLQTIYRLSKGRSLTKAQRD	2464
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G2571S	c.7711G>A	Putative Benign			SIFT: Polyphen:
p.G2571A	c.7712G>C	Putative Benign			SIFT: Polyphen:
p.G2571D	c.7712G>A	Putative Benign			SIFT: Polyphen: