K121* (p.Lys121Ter) variant of MMUT (P22033)
K121* (p.Lys121Ter) in MMUT (P22033) is a protein-truncating change. Clinical records from EBI and UniProt describe it as pathogenic. The record also includes published literature and structural context.
K121* (p.Lys121Ter) variant details
- p.Lys121Ter
- rs1554160919
- ClinGen CA658823265
- ClinVar RCV000674054
- Pathogenic
- Stop Gained
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Isolated Methylmalonic Acidemia. (PMID 20301409)