Paralogue Annotation for RYR2 residue 4423

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4423
Reference Amino Acid: K - Lysine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4423

No paralogue variants have been mapped to residue 4423 for RYR2.

RYR2	PNAGLSDLMSN-PVPMPE-V-QEKFQEQ-->K<A---KEEEKEEKEETKSEPEKAEGEDGEKE	4450
RYR1	GLGDMGDTTPAEPPTPEGSP-ILKRKLGVD>G<VEEELPPEPEPEPEPELEPEKADAENGEKE	4512
RYR3	GLGDLSEIIGKDEPPTLESTVQKKRKA--->Q<A---AEMKAANEAEGKVESEKADMEDGEKE	4353
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.K4423Q	c.13267A>C	Putative Benign		rs376908332	SIFT: tolerated Polyphen: benign