Paralogue Annotation for RYR2 residue 4328

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4328
Reference Amino Acid: A - Alanine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4328

No paralogue variants have been mapped to residue 4328 for RYR2.

RYR2	VASVFRGFFRIICSLLLGGSLVEGAKKIKV>A<ELLANMPDPTQDEVRGDGEEGERKP-LEAA	4357
RYR1	GAGAAAGALGLLWGSLFGGGLVEGAKKVTV>T<ELLAGMPDPTSDEVHGEQPAGPGGDADGEG	4407
RYR3	LFTILGGIFQILWSTVFGGGLVEGAKNIRV>T<KILGDMPDPTQFGIHDDTMEAERAEVMEPG	4259
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.A4328V	c.12983C>T	Putative Benign			SIFT: Polyphen: