Paralogue Annotation for RYR1 residue 2500

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2500
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2500

No paralogue variants have been mapped to residue 2500 for RYR1.

RYR1	ISLPLQIPTLGKDGALVQPKMSASFVPDHK>A<SMVLFLDRVYGIENQDFLLHVLDVGFLPDM	2530
RYR2	ISIAFQMPTIAKDGNVVEPDMSAGFCPDHK>A<AMVLFLDRVYGIEVQDFLLHLLEVGFLPDL	2496
RYR3	ISIPLKLPSLNKDGSVSEPDMAANFCPDHK>A<PMVLFLDRVYGIKDQTFLLHLLEVGFLPDL	2393
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A2500V	c.7499C>T	Putative Benign			SIFT: Polyphen: