Paralogue Annotation for RYR2 residue 1252

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1252
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1252

No paralogue variants have been mapped to residue 1252 for RYR2.

RYR2	STLKYFTICGLQEGYEPFAVNTNRDITMWL>S<KRLPQFLQVPSNHEHIEVTRIDGTIDSSPC	1282
RYR1	SSLRFFAICGLQEGFEPFAINMQRPVTTWF>S<KGLPQFEPVPLEHPHYEVSRVDGTVDTPPC	1268
RYR3	STFKFYTMCGLQEGFEPFAVNMNRDVAMWF>S<KRLPTFVNVPKDHPHIEVMRIDGTMDSPPC	1268
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1252R	c.3756C>G	Putative Benign			SIFT: Polyphen: