Paralogue Annotation for RYR1 residue 4495

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4495
Reference Amino Acid: P - Proline
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4495

No paralogue variants have been mapped to residue 4495 for RYR1.

RYR1	PTPEGSP-ILKRKLGVDGVEEELPPEPEPE>P<EPELEPEKADAENGEKEEVPEPTPEPPKKQ	4525
RYR2	VPMPE-V-QEKFQEQ--KA---KEEEKEEK>E<ETKSEPEKAEGEDGEKEEKAKEDKGKQKLR	4463
RYR3	PPTLESTVQKKRKA---QA---AEMKAANE>A<EGKVESEKADMEDGEKEDKDKEEEQAEYLW	4366
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.P4495L	c.13484C>T	Putative Benign		rs138929547	SIFT: Polyphen:
p.P4495S	c.13483C>T	Putative Benign			SIFT: Polyphen:
p.P4495R	c.13484C>G	Putative Benign			SIFT: Polyphen:
p.P4495Q	c.13484C>A	Putative Benign			SIFT: tolerated Polyphen: