Paralogue Annotation for RYR1 residue 1071

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1071
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1071

No paralogue variants have been mapped to residue 1071 for RYR1.

RYR1	RTLLGYGYNIEPPDQEP-SQVEN-QSRCDR>V<RIFRAEKSYTVQSGRWYFEFEAVTTGEMRV	1101
RYR2	RTLLGYGYNLEAPDQDHAARAEVCSGTGER>F<RIFRAEKTYAVKAGRWYFEFETVTAGDMRV	1115
RYR3	RTFVGYGYNIEPSDQEL-ADSAVEKVSIDK>I<RFFRVERSYAVRSGKWYFEFEVVTGGDMRV	1101
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V1071M	c.3211G>A	Putative Benign		rs146188106	SIFT: Polyphen: benign