Paralogue Annotation for RYR1 residue 4817

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4817
Reference Amino Acid: I - Isoleucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4817

No paralogue variants have been mapped to residue 4817 for RYR1.

RYR1	DNSFLYLGWYMVMSLLGHYNNFFFAAHLLD>I<AMGVKTLRTILSSVTHNGKQLVMTVGLLAV	4847
RYR2	DNSFLYLAWYMTMSVLGHYNNFFFAAHLLD>I<AMGFKTLRTILSSVTHNGKQLVLTVGLLAV	4776
RYR3	DNSFLYLAWYTTMSVLGHYNNFFFAAHLLD>I<AMGFKTLRTILSSVTHNGKQLVLTVGLLAV	4679
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.I4817F	c.14449A>T	Other Myopathy		rs143988412	SIFT: Polyphen:
Reports		Other Myopathy		Mutations in RYR1 in malignant hyperthermia and central core disease. Hum Mutat. 2006 27(10):977-89. 16917943
p.I4817V	c.14449A>G	Putative Benign		rs143988412	SIFT: Polyphen: