Paralogue Annotation for RYR2 residue 114

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 114
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 114

No paralogue variants have been mapped to residue 114 for RYR2.

RYR2	NTVEKSEGQVDVEKWKFMMKTAQGGGHRTL>L<YGHAILLRHSYSGMYLCCLSTSRSSTDKLA	144
RYR1	NTVEAG--V---E-------SSQGGGHRTL>L<YGHAILLRHAHSRMYLSCLTTSRSMTDKLA	131
RYR3	NTGENG-GE---G-------AAQGGGHRTL>L<YGHAVLLRHSFSGMYLTCLTTSRSQTDKLA	134
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L114V	c.340C>G	Putative Benign			SIFT: Polyphen: