Paralogue Annotation for RYR2 residue 1267

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1267
Reference Amino Acid: H - Histidine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1267

No paralogue variants have been mapped to residue 1267 for RYR2.

RYR2	EPFAVNTNRDITMWLSKRLPQFLQVPSNHE>H<IEVTRIDGTIDSSPCLKVTQKSFGSQNSNT	1297
RYR1	EPFAINMQRPVTTWFSKGLPQFEPVPLEHP>H<YEVSRVDGTVDTPPCLRLTHRTWGSQNSLV	1283
RYR3	EPFAVNMNRDVAMWFSKRLPTFVNVPKDHP>H<IEVMRIDGTMDSPPCLKVTHKTFGTQNSNA	1283
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.H1267L	c.3800A>T	Putative Benign			SIFT: Polyphen: