Paralogue Annotation for RYR1 residue 4788

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4788
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4788

No paralogue variants have been mapped to residue 4788 for RYR1.

RYR1	KPNPPPGLLTWLMSIDVKYQIWKFGVIFTD>N<SFLYLGWYMVMSLLGHYNNFFFAAHLLDIA	4818
RYR2	KPKKDSSLSAVLNSIDVKYQMWKLGVVFTD>N<SFLYLAWYMTMSVLGHYNNFFFAAHLLDIA	4747
RYR3	KA-EAASLVSWLSSIDMKYHIWKLGVVFTD>N<SFLYLAWYTTMSVLGHYNNFFFAAHLLDIA	4650
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4788S	c.14363A>G	Putative Benign		rs200002533	SIFT: Polyphen: