Paralogue Annotation for RYR2 residue 4330

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4330
Reference Amino Acid: L - Leucine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4330

No paralogue variants have been mapped to residue 4330 for RYR2.

RYR2	SVFRGFFRIICSLLLGGSLVEGAKKIKVAE>L<LANMPDPTQDEVRGDGEEGERKP-LEAALP	4359
RYR1	GAAAGALGLLWGSLFGGGLVEGAKKVTVTE>L<LAGMPDPTSDEVHGEQPAGPGGDADGEGAS	4409
RYR3	TILGGIFQILWSTVFGGGLVEGAKNIRVTK>I<LGDMPDPTQFGIHDDTMEAERAEVMEPGIT	4261
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4330V	c.12988C>G	Putative Benign			SIFT: tolerated Polyphen: possibly damaging