Paralogue Annotation for RYR2 residue 2085

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2085
Reference Amino Acid: F - Phenylalanine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2085

No paralogue variants have been mapped to residue 2085 for RYR2.

RYR2	SSTLQQLISETMVRWAQESVIEDPELVRAM>F<VLLHRQYDGIGGLVRALPKTYTINGVSVED	2115
RYR1	PRSLQELVSHMVVRWAQEDFVQSPELVRAM>F<SLLHRQYDGLGELLRALPRAYTISPSSVED	2151
RYR3	PTTLKELISQTMICWAQEDQIQDSELVRMM>F<NLLRRQYDSIGELLQALRKTYTISHTSVSD	2013
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.F2085S	c.6254T>C	Putative Benign			SIFT: Polyphen: