Paralogue Annotation for RYR1 residue 1067

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1067
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1067

No paralogue variants have been mapped to residue 1067 for RYR1.

RYR1	CQAVRTLLGYGYNIEPPDQEP-SQVEN-QS>R<CDRVRIFRAEKSYTVQSGRWYFEFEAVTTG	1097
RYR2	REAVRTLLGYGYNLEAPDQDHAARAEVCSG>T<GERFRIFRAEKTYAVKAGRWYFEFETVTAG	1111
RYR3	REAVRTFVGYGYNIEPSDQEL-ADSAVEKV>S<IDKIRFFRVERSYAVRSGKWYFEFEVVTGG	1097
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1067H	c.3200G>A	Putative Benign		rs377381782	SIFT: deleterious Polyphen: benign