Paralogue Annotation for RYR1 residue 184

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 184
Reference Amino Acid: A - Alanine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 184

No paralogue variants have been mapped to residue 184 for RYR1.

RYR1	KQRSEGEKVRVGDDIILVSVSSERYLHLST>A<SGELQVDASFMQTLWNMNPICSR--CEEGF	212
RYR2	KQRSEGEKVRVGDDLILVSVSSERYLHLSY>G<NGSLHVDAAFQQTLWSVAPISSGSEAAQGY	227
RYR3	KQRSEGEKVRIGDDLILVSVSSERYLHLSV>S<NGNIQVDASFMQTLWNVHPTCSGSSIEEGY	217
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A184T	c.550G>A	Putative Benign			SIFT: Polyphen: