Paralogue Annotation for RYR1 residue 3843

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3843
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3843

No paralogue variants have been mapped to residue 3843 for RYR1.

RYR1	QKMLDYLKDKKEVGFFQSIQALMQTCSVLD>L<NAFERQNKAEGLGMVNEDGTVINRQNGEKV	3873
RYR2	QKMLDYLKEKKDVGFFQSLAGLMQSCSVLD>L<NAFERQNKAEGLGMVTEEGS------GEKV	3829
RYR3	QKMLDYLKEKKDAGFFQSLSGLMQSCSVLD>L<NAFERQNKAEGLGMVTEEGTLIVRERGEKV	3725
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3843P	c.11528T>C	Putative Benign		rs150478499	SIFT: Polyphen: benign