Paralogue Annotation for RYR1 residue 1088

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1088
Reference Amino Acid: Y - Tyrosine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1088

No paralogue variants have been mapped to residue 1088 for RYR1.

RYR1	-SQVEN-QSRCDRVRIFRAEKSYTVQSGRW>Y<FEFEAVTTGEMRVGWARPELRPDVELGADE	1118
RYR2	AARAEVCSGTGERFRIFRAEKTYAVKAGRW>Y<FEFETVTAGDMRVGWSRPGCQPDQELGSDE	1132
RYR3	-ADSAVEKVSIDKIRFFRVERSYAVRSGKW>Y<FEFEVVTGGDMRVGWARPGCRPDVELGADD	1118
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Y1088C	c.3263A>G	Other Myopathy			SIFT: Polyphen:
Reports		Other Myopathy		Samaritan myopathy, an ultimately benign congenital myopathy, is caused by a RYR1 mutation. Acta Neuropathol. 2012 124(4):575-81. 22752422