Paralogue Annotation for RYR1 residue 4478

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4478
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4478

No paralogue variants have been mapped to residue 4478 for RYR1.

RYR1	EGAGGLGDMGDTTPAEPPTPEGSP-ILKRK>L<GVDGVEEELPPEPEPEPEPELEPEKADAEN	4508
RYR2	IPHNPNAGLSDLMSN-PVPMPE-V-QEKFQ>E<Q--KA---KEEEKEEKEETKSEPEKAEGED	4446
RYR3	GPEVGLGDLSEIIGKDEPPTLESTVQKKRK>A<---QA---AEMKAANEAEGKVESEKADMED	4349
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4478W	c.13433T>G	Putative Benign			SIFT: tolerated Polyphen: