Paralogue Annotation for RYR1 residue 2607

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2607
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2607

No paralogue variants have been mapped to residue 2607 for RYR1.

RYR1	IMVDSMLHTVYRLSRGRSLTKAQRDVIEDC>L<MSLCRYIRPSMLQHLLRRLVFDVPILNEFA	2637
RYR2	SLIDSLLHTVYRLSKGCSLTKAQRDSIEVC>L<LSICGQLRPSMMQHLLRRLVFDVPLLNEHA	2603
RYR3	SLIDSTLQTIYRLSKGRSLTKAQRDTIEEC>L<LAICNHLRPSMLQQLLRRLVFDVPQLNEYC	2500
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L2607F	c.7819C>T	Putative Benign		rs199802423	SIFT: Polyphen: benign
p.L2607P	c.7820T>C	Putative Benign			SIFT: Polyphen: