Paralogue Annotation for RYR2 residue 2031

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2031
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2031

No paralogue variants have been mapped to residue 2031 for RYR2.

RYR2	DLMTHCGIELDEDG-SLDGNSDLTIRGRLL>S<LVEKVTYLKKKQA--EKPVESDSKKSSTLQ	2059
RYR1	DLLAHCGIQLDGEEEEP--EEETTLGSRLM>S<LLEKVRLVKKKEEKPEEERSAEESKPRSLQ	2095
RYR3	DLLLHCGVPLEEEE-EE--EEDTSWTGKLC>A<LVYKIKGPPKPEK--EQPTEEEERCPTTLK	1957
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S2031F	c.6092C>T	Putative Benign			SIFT: Polyphen: