Paralogue Annotation for RYR2 residue 4051

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4051
Reference Amino Acid: A - Alanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4051

No paralogue variants have been mapped to residue 4051 for RYR2.

RYR2	LKLKDLTSSDTFKEYDPDGKGVISKRDFHK>A<MESHKHYTQSETEFLLSCAETDENETLDYE	4081
RYR1	LKLKDIVGSEAFQDYVTDPRGLISKKDFQK>A<MDSQKQFSGPEIQFLLSCSEADENEMINCE	4125
RYR3	LKLKDLTSSDTFKEYDPDGKGIISKKEFQK>A<MEGQKQYTQSEIDFLLSCAEADENDMFNYV	3977
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4051V	c.12152C>T	Putative Benign			SIFT: deleterious Polyphen: probably damaging