Paralogue Annotation for RYR1 residue 4165

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 4165
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 4165

No paralogue variants have been mapped to residue 4165 for RYR1.

RYR1	ARDIGFNVAVLLTNLSEHVPHDPRLHNFLE>L<AESILEYFRPYLGRIEIMGASRRIERIYFE	4195
RYR2	AKDIGFNVAVLLTNLSEHMPNDTRLQTFLE>L<AESVLNYFQPFLGRIEIMGSAKRIERVYFE	4151
RYR3	AKDIGFNVAVLLTNLSEHMPNDSRLKCLLD>P<AESVLNYFEPYLGRIEIMGGAKKIERVYFE	4047
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L4165M	c.12493C>A	Putative Benign			SIFT: tolerated Polyphen: benign