Paralogue Annotation for RYR1 residue 2564

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2564
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2564

No paralogue variants have been mapped to residue 2564 for RYR1.

RYR1	ASLDTATFSTTEMALALNRYLCLAVLPLIT>K<CAPLFAGTEHRAIMVDSMLHTVYRLSRGRS	2594
RYR2	ASLDTAALSATDMALALNRYLCTAVLPLLT>R<CAPLFAGTEHHASLIDSLLHTVYRLSKGCS	2560
RYR3	ASLDTVSLSTTEAALALNRYICSAVLPLLT>R<CAPLFAGTEHCTSLIDSTLQTIYRLSKGRS	2457
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K2564N	c.7692G>C	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS. Neurol Genet. 2015 1(2):e14. doi: 10.1212/NXG.0000000000000015. eColl 27066551