Paralogue Annotation for RYR2 residue 118

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 118
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 118

No paralogue variants have been mapped to residue 118 for RYR2.

RYR2	KSEGQVDVEKWKFMMKTAQGGGHRTLLYGH>A<ILLRHSYSGMYLCCLSTSRSSTDKLAFDVG	148
RYR1	AG--V---E-------SSQGGGHRTLLYGH>A<ILLRHAHSRMYLSCLTTSRSMTDKLAFDVG	135
RYR3	NG-GE---G-------AAQGGGHRTLLYGH>A<VLLRHSFSGMYLTCLTTSRSQTDKLAFDVG	138
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A118V	c.353C>T	Putative Benign			SIFT: deleterious Polyphen: benign