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Literature summary for 6.3.3.2 extracted from

  • Burda, P.; Kuster, A.; Hjalmarson, O.; Suormala, T.; Buerer, C.; Lutz, S.; Roussey, G.; Christa, L.; Asin-Cayuela, J.; Kollberg, G.; Andersson, B.A.; Watkins, D.; Rosenblatt, D.S.; Fowler, B.; Holme, E.; Froese, D.S.; Baumgartner, M.R.
    Characterization and review of MTHFD1 deficiency four new patients, cellular delineation and response to folic and folinic acid treatment (2015), J. Inherit. Metab. Dis., 38, 863-872 .
    View publication on PubMed

Application

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(Commentary)

Cloned (Comment) Organism
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Homo sapiens

Protein Variants

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

Organism UniProt Comment Textmining
Homo sapiens P11586
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Synonyms

Synonyms Comment Organism
MTHFD1
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Homo sapiens