Application | Comment | Organism |
---|---|---|
medicine | identification of four patients from two different families, due to a missense mutation (c.806C>T, p.Thr296Ile) and a splice site mutation (c.1674G>A) leading to exon skipping,while the other three patients harboured a missense mutation (c.146C>T, p.Ser49Phe) and a premature stop mutation (c.673G>T, p.Glu225*). Patient fibroblasts show severely reduced methionine formation from [14C]-formate, which does not increase in cobalamin supplemented culture medium but is responsive to folic and folinic acid | Homo sapiens |
Cloned (Comment) | Organism |
---|---|
- |
Homo sapiens |
Protein Variants | Comment | Organism |
---|---|---|
E225Stop | mutation identified in a patient suffering MTHFD1 deficiency | Homo sapiens |
additional information | splice site mutation (c.1674G>A) identified in a patient suffering MTHFD1 deficiency leads to exon skipping | Homo sapiens |
S49F | mutation identified in a patient suffering MTHFD1 deficiency | Homo sapiens |
T296I | mutation identified in a patient suffering MTHFD1 deficiency | Homo sapiens |
Organism | UniProt | Comment | Textmining |
---|---|---|---|
Homo sapiens | P11586 | - |
- |
Synonyms | Comment | Organism |
---|---|---|
MTHFD1 | - |
Homo sapiens |