Paralogue Annotation for RYR1 residue 2495

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2495
Reference Amino Acid: V - Valine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2495

No paralogue variants have been mapped to residue 2495 for RYR1.

RYR1	DLVGIISLPLQIPTLGKDGALVQPKMSASF>V<PDHKASMVLFLDRVYGIENQDFLLHVLDVG	2525
RYR2	DLVGVISIAFQMPTIAKDGNVVEPDMSAGF>C<PDHKAAMVLFLDRVYGIEVQDFLLHLLEVG	2491
RYR3	DLVGIISIPLKLPSLNKDGSVSEPDMAANF>C<PDHKAPMVLFLDRVYGIKDQTFLLHLLEVG	2388
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.V2495M	c.7483G>A	Putative Benign		rs200291321	SIFT: Polyphen: possibly damaging