Paralogue Annotation for RYR2 residue 4407

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 4407
Reference Amino Acid: S - Serine
Protein Domain: Transmembrane region

Paralogue Variants mapped to RYR2 residue 4407

No paralogue variants have been mapped to residue 4407 for RYR2.

RYR2	--IFGLDLKREGGQYKLIPHNPNAGLSDLM>S<N-PVPMPE-V-QEKFQEQ--KA---KEEEK	4429
RYR1	GGADGAVAVTDGGPFRPEGAGGLGDMGDTT>P<AEPPTPEGSP-ILKRKLGVDGVEEELPPEP	4491
RYR3	--LFGLHPKKEGS-LKHGPEVGLGDLSEII>G<KDEPPTLESTVQKKRKA---QA---AEMKA	4332
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See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.S4407N	c.13220G>A	Putative Benign			SIFT: tolerated Polyphen: benign