Paralogue Annotation for RYR1 residue 277

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 277
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 277

No paralogue variants have been mapped to residue 277 for RYR1.

RYR1	EGGAVCTHARSLWRLEPLRISWSGSHLRWG>Q<PLRVRHVTTGQYLALTEDQGLVVVDASKAH	307
RYR2	EGGAVSVHARSLWRLETLRVAWSGSHIRWG>Q<PFRLRHVTTGKYLSLMEDKNLLLMDKEKAD	323
RYR3	EAGGAGTRARSLWRVEPLRISWSGSNIRWG>Q<AFRLRHLTTGHYLALTEDQGLILQDRAKSD	312
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q277H	c.831G>C	Putative Benign		rs34004552	SIFT: Polyphen: probably damaging