Paralogue Annotation for RYR1 residue 4985

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4985
Reference Amino Acid: N - Asparagine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4985

No paralogue variants have been mapped to residue 4985 for RYR1.

RYR1	METKCFICGIGSDYFDTTPHGFETHTLEEH>N<LANYMFFLMYLINKDETEHTGQESYVWKMY	5015
RYR2	METKCFICGIGNDYFDTVPHGFETHTLQEH>N<LANYLFFLMYLINKDETEHTGQESYVWKMY	4944
RYR3	METKCFICGIGNDYFDTTPHGFETHTLQEH>N<LANYLFFLMYLINKDETEHTGQESYVWKMY	4847
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.N4985T	c.14954A>C	Putative Benign			SIFT: Polyphen: