Paralogue Annotation for RYR2 residue 2107

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2107
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2107

No paralogue variants have been mapped to residue 2107 for RYR2.

RYR2	DPELVRAMFVLLHRQYDGIGGLVRALPKTY>T<INGVSVEDTINLLASLGQIRSLLSVRMGKE	2137
RYR1	SPELVRAMFSLLHRQYDGLGELLRALPRAY>T<ISPSSVEDTMSLLECLGQIRSLLIVQMGPQ	2173
RYR3	DSELVRMMFNLLRRQYDSIGELLQALRKTY>T<ISHTSVSDTINLLAALGQIRSLLSVRMGKE	2035
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T2107M	c.6320C>T	Putative Benign		rs370331492	SIFT: deleterious Polyphen: probably damaging