Paralogue Annotation for RYR2 residue 4955

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4955
Reference Amino Acid: G - Glycine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4955

No paralogue variants have been mapped to residue 4955 for RYR2.

RYR2	LINKDETEHTGQESYVWKMYQERCWEFFPA>G<DCFRKQYEDQLN	4967
RYR1	LINKDETEHTGQESYVWKMYQERCWDFFPA>G<DCFRKQYEDQLS	5038
RYR3	LINKDETEHTGQESYVWKMYQERCWDFFPA>G<DCFRKQYEDQLG	4870
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G4955E	c.14864G>A	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		De novo mutations in moderate or severe intellectual disability. PLoS Genet. 2014 10(10):e1004772. doi: 10.1371/journal.pgen.1004772 25356899