Paralogue Annotation for RYR1 residue 4489

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4489
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4489

No paralogue variants have been mapped to residue 4489 for RYR1.

RYR1	TTPAEPPTPEGSP-ILKRKLGVDGVEEELP>P<EPEPEPEPELEPEKADAENGEKEEVPEPTP	4519
RYR2	LMSN-PVPMPE-V-QEKFQEQ--KA---KE>E<EKEEKEETKSEPEKAEGEDGEKEEKAKEDK	4457
RYR3	IIGKDEPPTLESTVQKKRKA---QA---AE>M<KAANEAEGKVESEKADMEDGEKEDKDKEEE	4360
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4489S	c.13465C>T	Putative Benign			SIFT: Polyphen: