Paralogue Annotation for RYR2 residue 4078

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4078
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4078

No paralogue variants have been mapped to residue 4078 for RYR2.

RYR2	FHKAMESHKHYTQSETEFLLSCAETDENET>L<DYEEFVKRFHEPAKDIGFNVAVLLTNLSEH	4108
RYR1	FQKAMDSQKQFSGPEIQFLLSCSEADENEM>I<NCEEFANRFQEPARDIGFNVAVLLTNLSEH	4152
RYR3	FQKAMEGQKQYTQSEIDFLLSCAEADENDM>F<NYVDFVDRFHEPAKDIGFNVAVLLTNLSEH	4004
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4078I	c.12232C>A	Putative Benign			SIFT: Polyphen: