Paralogue Annotation for RYR1 residue 1240

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1240
Reference Amino Acid: G - Glycine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1240

No paralogue variants have been mapped to residue 1240 for RYR1.

RYR1	LRFFAICGLQEGFEPFAINMQRPVTTWFSK>G<LPQFEPVPLEHPHYEVSRVDGTVDTPPCLR	1270
RYR2	LKYFTICGLQEGYEPFAVNTNRDITMWLSK>R<LPQFLQVPSNHEHIEVTRIDGTIDSSPCLK	1284
RYR3	FKFYTMCGLQEGFEPFAVNMNRDVAMWFSK>R<LPTFVNVPKDHPHIEVMRIDGTMDSPPCLK	1270
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.G1240V	c.3719G>T	Unknown			SIFT: Polyphen: benign