Paralogue Annotation for RYR2 residue 4054

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4054
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4054

No paralogue variants have been mapped to residue 4054 for RYR2.

RYR2	KDLTSSDTFKEYDPDGKGVISKRDFHKAME>S<HKHYTQSETEFLLSCAETDENETLDYEEFV	4084
RYR1	KDIVGSEAFQDYVTDPRGLISKKDFQKAMD>S<QKQFSGPEIQFLLSCSEADENEMINCEEFA	4128
RYR3	KDLTSSDTFKEYDPDGKGIISKKEFQKAME>G<QKQYTQSEIDFLLSCAEADENDMFNYVDFV	3980
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4054G	c.12160A>G	Putative Benign		rs376781046	SIFT: tolerated Polyphen: benign