Paralogue Annotation for RYR2 residue 2111

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2111
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2111

No paralogue variants have been mapped to residue 2111 for RYR2.

RYR2	VRAMFVLLHRQYDGIGGLVRALPKTYTING>V<SVEDTINLLASLGQIRSLLSVRMGKEEEKL	2141
RYR1	VRAMFSLLHRQYDGLGELLRALPRAYTISP>S<SVEDTMSLLECLGQIRSLLIVQMGPQEENL	2177
RYR3	VRMMFNLLRRQYDSIGELLQALRKTYTISH>T<SVSDTINLLAALGQIRSLLSVRMGKEEELL	2039
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2111A	c.6332T>C	Putative Benign			SIFT: tolerated Polyphen: benign