Paralogue Annotation for RYR2 residue 166

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 166
Reference Amino Acid: S - Serine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 166

No paralogue variants have been mapped to residue 166 for RYR2.

RYR2	SRSSTDKLAFDVGLQEDTTGEACWWTIHPA>S<KQRSEGEKVRVGDDLILVSVSSERYLHLSY	196
RYR1	SRSMTDKLAFDVGLQEDATGEACWWTMHPA>S<KQRSEGEKVRVGDDIILVSVSSERYLHLST	183
RYR3	SRSQTDKLAFDVGLREHATGEACWWTIHPA>S<KQRSEGEKVRIGDDLILVSVSSERYLHLSV	186
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S166C	c.497C>G	Inherited Arrhythmia	LQTS		SIFT: Polyphen:
Reports		Inherited Arrhythmia	LQTS	Exome Analyses of Long QT Syndrome Reveal Candidate Pathogenic Mutations in Calmodulin-Interacting Genes. PLoS One. 2015 10(7):e0130329. doi: 10.1371/journal.pone.0130329. 26132555