Paralogue Annotation for RYR2 residue 2119

Residue details

Gene: RYR2
Reference Sequences: LRG: LRG_402, Ensembl variant: ENST00000366574 / ENSP00000355533
Amino Acid Position: 2119
Reference Amino Acid: L - Leucine
Protein Domain: Cytoplasmic region

Paralogue Variants mapped to RYR2 residue 2119

No paralogue variants have been mapped to residue 2119 for RYR2.

RYR2	HRQYDGIGGLVRALPKTYTINGVSVEDTIN>L<LASLGQIRSLLSVRMGKEEEKLMIRGLGDI	2149
RYR1	HRQYDGLGELLRALPRAYTISPSSVEDTMS>L<LECLGQIRSLLIVQMGPQEENLMIQSIGNI	2185
RYR3	RRQYDSIGELLQALRKTYTISHTSVSDTIN>L<LAALGQIRSLLSVRMGKEEELLMINGLGDI	2047
cons	> <

See full Alignment of Paralogues

Known Variants in RYR2

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2119P	c.6356T>C	Putative Benign			SIFT: Polyphen: