Paralogue Annotation for RYR1 residue 1070

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1070
Reference Amino Acid: R - Arginine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1070

No paralogue variants have been mapped to residue 1070 for RYR1.

RYR1	VRTLLGYGYNIEPPDQEP-SQVEN-QSRCD>R<VRIFRAEKSYTVQSGRWYFEFEAVTTGEMR	1100
RYR2	VRTLLGYGYNLEAPDQDHAARAEVCSGTGE>R<FRIFRAEKTYAVKAGRWYFEFETVTAGDMR	1114
RYR3	VRTFVGYGYNIEPSDQEL-ADSAVEKVSID>K<IRFFRVERSYAVRSGKWYFEFEVVTGGDMR	1100
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.R1070W	c.3208C>T	Putative Benign		rs368950468	SIFT: deleterious Polyphen: probably damaging
p.R1070Q	c.3209G>A	Putative Benign			SIFT: Polyphen: