Paralogue Annotation for RYR1 residue 1064

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 1064
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 1064

No paralogue variants have been mapped to residue 1064 for RYR1.

RYR1	RDSLCQAVRTLLGYGYNIEPPDQEP-SQVE>N<-QSRCDRVRIFRAEKSYTVQSGRWYFEFEA	1093
RYR2	KDSLREAVRTLLGYGYNLEAPDQDHAARAE>V<CSGTGERFRIFRAEKTYAVKAGRWYFEFET	1107
RYR3	RDSLREAVRTFVGYGYNIEPSDQEL-ADSA>V<EKVSIDKIRFFRVERSYAVRSGKWYFEFEV	1093
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N1064K	c.3192C>G	Putative Benign			SIFT: Polyphen: