Paralogue Annotation for RYR2 residue 1317

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1317
Reference Amino Acid: T - Threonine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1317

No paralogue variants have been mapped to residue 1317 for RYR2.

RYR2	QKSFGSQNSNTDIMFYRLSMPIECAEVFSK>T<V-AGGLPGAGLFGPK-NDLEDYDADSDFEV	1345
RYR1	HRTWGSQNSLVEMLFLRLSLPVQFHQHFRC>T<AGATPLAPPGLQPPAEDEARAAEPDPDYEN	1333
RYR3	HKTFGTQNSNADMIYCRLSMPVECHSSFSH>-<------------------------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.T1317M	c.3950C>T	Putative Benign			SIFT: Polyphen: