Paralogue Annotation for RYR2 residue 4957

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4957
Reference Amino Acid: C - Cysteine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4957

No paralogue variants have been mapped to residue 4957 for RYR2.

RYR2	NKDETEHTGQESYVWKMYQERCWEFFPAGD>C<FRKQYEDQLN	4967
RYR1	NKDETEHTGQESYVWKMYQERCWDFFPAGD>C<FRKQYEDQLS	5038
RYR3	NKDETEHTGQESYVWKMYQERCWDFFPAGD>C<FRKQYEDQLG	4870
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.C4957S	c.14869T>A	Putative Benign			SIFT: Polyphen: