Paralogue Annotation for RYR1 residue 839

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 839
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 839

No paralogue variants have been mapped to residue 839 for RYR1.

RYR1	PCHEAVLPRERLHLEPIKEYRREGPRGPHL>V<GPSRCLSHTDFVPCPVDTVQIVLPPHLERI	869
RYR2	PCYEAVLPKEKLKVEHSREYKQERTYTRDL>L<GPTVSLTQAAFTPIPVDTSQIVLPPHLERI	881
RYR3	PCYEALLPKEKMRLEPVKEYKRDADGIRDL>L<GTTQFLSQASFIPCPVDTSQVILPPHLEKI	868
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V839A	c.2516T>C	Putative Benign			SIFT: Polyphen: