Paralogue Annotation for RYR2 residue 3480

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 3480
Reference Amino Acid: I - Isoleucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 3480

No paralogue variants have been mapped to residue 3480 for RYR2.

RYR2	KKMKRKGDRYSMQTSLIVAALKRLLPIGLN>I<CAPGDQELIALAKNRFSLKDTEDEVRDIIR	3510
RYR1	TKKKRRGDRYSVQTSLIVATLKKMLPIGLN>M<CAPTDQDLITLAKTRYALKDTDEEVREFLH	3554
RYR3	KKTKRRGDLYSIQTSLIVAALKKMLPIGLN>M<CTPGDQELISLAKSRYSHRDTDEEVREHLR	3411
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I3480T	c.10439T>C	Putative Benign			SIFT: Polyphen: