Paralogue Annotation for RYR1 residue 2646

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2646
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2646

No paralogue variants have been mapped to residue 2646 for RYR1.

RYR1	PSMLQHLLRRLVFDVPILNEFAKMPLKLLT>N<HYERCWKYYCLPTGWANFGVTSEEELHLTR	2676
RYR2	PSMMQHLLRRLVFDVPLLNEHAKMPLKLLT>N<HYERCWKYYCLPGGWGNFGAASEEELHLSR	2642
RYR3	PSMLQQLLRRLVFDVPQLNEYCKMPLKLLT>N<HYEQCWKYYCLPSGWGSYGLAVEEELHLTE	2539
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N2646D	c.7936A>G	Putative Benign			SIFT: Polyphen: