Paralogue Annotation for RYR1 residue 4981

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4981
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4981

No paralogue variants have been mapped to residue 4981 for RYR1.

RYR1	VKEDMETKCFICGIGSDYFDTTPHGFETHT>L<EEHNLANYMFFLMYLINKDETEHTGQESYV	5011
RYR2	VKEDMETKCFICGIGNDYFDTVPHGFETHT>L<QEHNLANYLFFLMYLINKDETEHTGQESYV	4940
RYR3	VREDMETKCFICGIGNDYFDTTPHGFETHT>L<QEHNLANYLFFLMYLINKDETEHTGQESYV	4843
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See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4981P	c.14942T>C	Putative Benign			SIFT: Polyphen: