Paralogue Annotation for RYR1 residue 2769

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2769
Reference Amino Acid: D - Aspartate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2769

No paralogue variants have been mapped to residue 2769 for RYR1.

RYR1	PVETLNVIIPEKLDSFINKFAEYTHEKWAF>D<KIQNNWSYGENIDEELKTHPMLRPYKTFSE	2799
RYR2	PVDTSNITIPEKLEYFINKYAEHSHDKWSM>D<KLANGWIYGEIYSDSSKVQPLMKPYKLLSE	2765
RYR3	PINTMNFSLPEKLEYIVTKYAEHSHDKWAC>D<KSQSGWKYGISLDENVKTHPLIRPFKTLTE	2662
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D2769N	c.8305G>A	Putative Benign			SIFT: deleterious Polyphen: benign