Paralogue Annotation for RYR1 residue 2189

Residue details

Gene: RYR1
Reference Sequences: Ensembl variant: ENST00000359596 / ENSP00000352608
Amino Acid Position: 2189
Reference Amino Acid: K - Lysine
Protein Domain:

Paralogue Variants mapped to RYR1 residue 2189

Paralogue	Variant	Associated Disease	Mapping Quality	Consensus	Pubmed
RYR2	K2153E	Colorectal cancer	High	9	25892863

To assess whether the paralogue annotation here confidently predicts that variation at this residue is pathogenic, it is important to check the reports in the Pubmed links above to ascertain that the mutations in these paralogues have been proved likely to be disease-causing. It is also important to check that the direction of effect of the variant in the paralogue is compatible with your observed phenotype in RYR1.

RYR1	LGQIRSLLIVQMGPQEENLMIQSIGNIMNN>K<VFYQHPNLMRALGMHETVMEVMVNVLGGGE	2219
RYR2	LGQIRSLLSVRMGKEEEKLMIRGLGDIMNN>K<VFYQHPNLMRALGMHETVMEVMVNVLGGGE	2183
RYR3	LGQIRSLLSVRMGKEEELLMINGLGDIMNN>K<VFYQHPNLMRVLGMHETVMEVMVNVLGT-E	2080
cons	> <

See full Alignment of Paralogues

Known Variants in RYR1

There are currently no reported variants at residue 2189 for RYR1.