Paralogue Annotation for RYR1 residue 1238

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1238
Reference Amino Acid: S - Serine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1238

No paralogue variants have been mapped to residue 1238 for RYR1.

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

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S1238R	c.3712A>C	Putative Benign			SIFT: Polyphen: