Paralogue Annotation for RYR2 residue 1299

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 1299
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 1299

No paralogue variants have been mapped to residue 1299 for RYR2.

RYR2	EVTRIDGTIDSSPCLKVTQKSFGSQNSNTD>I<MFYRLSMPIECAEVFSKTV-AGGLPGAGLF	1328
RYR1	EVSRVDGTVDTPPCLRLTHRTWGSQNSLVE>M<LFLRLSLPVQFHQHFRCTAGATPLAPPGLQ	1315
RYR3	EVMRIDGTMDSPPCLKVTHKTFGTQNSNAD>M<IYCRLSMPVECHSSFSH-------------	1302
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I1299T	c.3896T>C	Putative Benign			SIFT: Polyphen:
p.I1299S	c.3896T>G	Putative Benign			SIFT: Polyphen:
p.I1299M	c.3897C>G	Putative Benign			SIFT: Polyphen: