Paralogue Annotation for RYR1 residue 4449

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4449
Reference Amino Acid: E - Glutamate
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4449

No paralogue variants have been mapped to residue 4449 for RYR1.

RYR1	AGDEEEAVHEAGPGGADGAVAVTDGGPFRP>E<GAGGLGDMGDTTPAEPPTPEGSP-ILKRKL	4478
RYR2	LTEESDLLSD-----IFGLDLKREGGQYKL>I<PHNPNAGLSDLMSN-PVPMPE-V-QEKFQE	4421
RYR3	EKGDTDIMSD-----LFGLHPKKEGS-LKH>G<PEVGLGDLSEIIGKDEPPTLESTVQKKRKA	4325
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.E4449K	c.13345G>A	Putative Benign			SIFT: tolerated Polyphen: