Paralogue Annotation for RYR2 residue 4079

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4079
Reference Amino Acid: D - Aspartate
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 4079

No paralogue variants have been mapped to residue 4079 for RYR2.

RYR2	HKAMESHKHYTQSETEFLLSCAETDENETL>D<YEEFVKRFHEPAKDIGFNVAVLLTNLSEHM	4109
RYR1	QKAMDSQKQFSGPEIQFLLSCSEADENEMI>N<CEEFANRFQEPARDIGFNVAVLLTNLSEHV	4153
RYR3	QKAMEGQKQYTQSEIDFLLSCAEADENDMF>N<YVDFVDRFHEPAKDIGFNVAVLLTNLSEHM	4005
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.D4079G	c.12236A>G	Putative Benign			SIFT: Polyphen: