Paralogue Annotation for RYR2 residue 342

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 342
Reference Amino Acid: V - Valine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 342

No paralogue variants have been mapped to residue 342 for RYR2.

RYR2	LLMDKEKADVKSTAFTFRS---SKEKLDVG>V<RKEVDGMGTSEIKYGDSVCYIQHVDTGLWL	372
RYR1	VVVDASKAHTKATSFCFRI---SKEKLDVA>P<KRDVEGMGPPEIKYGESLCFVQHVASGLWL	356
RYR3	ILQDRAKSDTKSTAFSFRASKELKEKLDSS>H<KRDIEGMGVPEIKYGDSVCFVQHIASGLWV	364
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V342M	c.1024G>A	Putative Benign		rs371898166	SIFT: tolerated Polyphen: benign