Paralogue Annotation for RYR2 residue 2933

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2933
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2933

No paralogue variants have been mapped to residue 2933 for RYR2.

RYR2	VSRGFKDLELDTPSIEKRFAYSFLQQLIRY>V<DEAHQYILEFDGG-SRGKGEHFPYEQEIKF	2962
RYR1	VTRGLKDMELDSSSIEKRFAFGFLQQLLRW>M<DISQEFIAHLEAVVSSGRVEKSPHEQEIKF	2997
RYR3	VSRGMKDMELDASSMEKRFAYKFLKKILKY>V<DSAQEFIAHLEAIVSSGKTEKSPRDQEIKF	2858
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2933G	c.8798T>G	Putative Benign			SIFT: deleterious Polyphen: possibly damaging