Paralogue Annotation for RYR2 residue 2441

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2441
Reference Amino Acid: Q - Glutamine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2441

No paralogue variants have been mapped to residue 2441 for RYR2.

RYR2	AGKGEAIRIRSILRSLIPLGDLVGVISIAF>Q<MPTIAKDGNVVEPDMSAGFCPDHKAAMVLF	2471
RYR1	AGKGEALRIRAILRSLVPLEDLVGIISLPL>Q<IPTLGKDGALVQPKMSASFVPDHKASMVLF	2505
RYR3	TGKGEAIRIRSILRSLVPTEDLVGIISIPL>K<LPSLNKDGSVSEPDMAANFCPDHKAPMVLF	2368
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q2441E	c.7321C>G	Putative Benign			SIFT: tolerated Polyphen: benign