Paralogue Annotation for RYR1 residue 464

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 464
Reference Amino Acid: Q - Glutamine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 464

No paralogue variants have been mapped to residue 464 for RYR1.

RYR1	ALPIEGVILSLQDLIIYFEPPSEDLQHEEK>Q<SKLRSLRNRQSLFQEEGMLSMVLNCIDRLN	494
RYR2	DLPIESVSLSLQDLIGYFHPPDEHLEHEDK>Q<NRLRALKNRQNLFQEEGMINLVLECIDRLH	506
RYR3	TLPIEEVLQTLQDLIAYFQPPEEEMRHEDK>Q<NKLRSLKNRQNLFKEEGMLALVLNCIDRLN	493
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.Q464R	c.1391A>G	Other Disease Phenotype			SIFT: Polyphen:
Reports		Other Disease Phenotype		De novo mutations in NALCN cause a syndrome characterized by congenital contractures of the limbs and face, hypotonia, and developmental delay. Am J Hum Genet. 2015 96(3):462-73. doi: 10.1016/j.ajhg.2015.01.003. 25683120