Paralogue Annotation for RYR1 residue 3206

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 3206
Reference Amino Acid: L - Leucine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 3206

No paralogue variants have been mapped to residue 3206 for RYR1.

RYR1	GTTKNTYVEKLRPALGECLARLAAAMPVAF>L<EPQLNEYNACSVYTTKSPRERAILGLPNSV	3236
RYR2	GTSKSIYVERQRSALGECLAAFAGAFPVAF>L<ETHLDKHNIYSIYNTKSSRERAALSLPTNV	3201
RYR3	GTGKNIYVERQRPALGECLASLAAAIPVAF>L<EPTLNRYNPLSVFNTKTPRERSILGMPDTV	3097
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

Protein	CDS	Disease Classification	Disease	dbSNP links	Effect Prediction
p.L3206V	c.9616C>G	Putative Benign		rs191357389	SIFT: Polyphen: possibly damaging