Paralogue Annotation for RYR2 residue 2116

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2116
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2116

No paralogue variants have been mapped to residue 2116 for RYR2.

RYR2	VLLHRQYDGIGGLVRALPKTYTINGVSVED>T<INLLASLGQIRSLLSVRMGKEEEKLMIRGL	2146
RYR1	SLLHRQYDGLGELLRALPRAYTISPSSVED>T<MSLLECLGQIRSLLIVQMGPQEENLMIQSI	2182
RYR3	NLLRRQYDSIGELLQALRKTYTISHTSVSD>T<INLLAALGQIRSLLSVRMGKEEELLMINGL	2044
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2116A	c.6346A>G	Putative Benign			SIFT: Polyphen: