Paralogue Annotation for RYR1 residue 851

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 851
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 851

No paralogue variants have been mapped to residue 851 for RYR1.

RYR1	HLEPIKEYRREGPRGPHLVGPSRCLSHTDF>V<PCPVDTVQIVLPPHLERIREKLAENIHELW	881
RYR2	KVEHSREYKQERTYTRDLLGPTVSLTQAAF>T<PIPVDTSQIVLPPHLERIREKLAENIHELW	893
RYR3	RLEPVKEYKRDADGIRDLLGTTQFLSQASF>I<PCPVDTSQVILPPHLEKIRDRLAENIHELW	880
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V851M	c.2551G>A	Putative Benign		rs375669412	SIFT: deleterious Polyphen: probably damaging
p.V851L	c.2551G>T	Putative Benign			SIFT: Polyphen: