Paralogue Annotation for RYR1 residue 1273

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1273
Reference Amino Acid: H - Histidine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1273

No paralogue variants have been mapped to residue 1273 for RYR1.

RYR1	QFEPVPLEHPHYEVSRVDGTVDTPPCLRLT>H<RTWGSQNSLVEMLFLRLSLPVQFHQHFRCT	1303
RYR2	QFLQVPSNHEHIEVTRIDGTIDSSPCLKVT>Q<KSFGSQNSNTDIMFYRLSMPIECAEVFSKT	1317
RYR3	TFVNVPKDHPHIEVMRIDGTMDSPPCLKVT>H<KTFGTQNSNADMIYCRLSMPVECHSSFSH-	1302
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1273R	c.3818A>G	Putative Benign			SIFT: Polyphen: