Paralogue Annotation for RYR1 residue 275

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 275
Reference Amino Acid: W - Tryptophan
Protein Domain:

Paralogue Variants mapped to RYR1 residue 275

No paralogue variants have been mapped to residue 275 for RYR1.

RYR1	YYEGGAVCTHARSLWRLEPLRISWSGSHLR>W<GQPLRVRHVTTGQYLALTEDQGLVVVDASK	305
RYR2	HYEGGAVSVHARSLWRLETLRVAWSGSHIR>W<GQPFRLRHVTTGKYLSLMEDKNLLLMDKEK	321
RYR3	FYEAGGAGTRARSLWRVEPLRISWSGSNIR>W<GQAFRLRHLTTGHYLALTEDQGLILQDRAK	310
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.W275C	c.825G>T	Putative Benign		rs138687891	SIFT: Polyphen: probably damaging
p.W275C	c.825G>C	Putative Benign			SIFT: Polyphen: