Variant position: 293 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 935 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human GGVGPMTVAMLMQSTVESAK RFLEKFKPGKWMIQYNNLNLK
Mouse GGVGPMTVAMLMQSTVESAQ RFLQKFKPGKWTIQYNKLNLK
Rat GGVGPMTVAMLMQSTVESAQ RFLKKFKPGKWTIQYNKLNLK
Drosophila GGVGPMTVAMLMKNTVRSAA RFLERLAKSQWALQTLPLKPQ
Baker's yeast GGVGPMTVAMLMQNTLIAAK RQMEESSK-PLQIPPLPLKLL
Fission yeast GSVGPMTVAMLLQNVVESAV RFRKMSRKRKPTL--LPLKLQ
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 935 C-1-tetrahydrofolate synthase, cytoplasmic
2 – 935 C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
2 – 305 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
275 – 295
Molecular genetic analysis of the gene encoding the trifunctional enzyme MTHFD (methylenetetrahydrofolate-dehydrogenase, methenyltetrahydrofolate-cyclohydrolase, formyltetrahydrofolate synthetase) in patients with neural tube defects.
Hol F.A.; van der Put N.M.J.; Geurds M.P.A.; Heil S.G.; Trijbels F.J.M.; Hamel B.C.J.; Mariman E.C.M.; Blom H.J.;
Clin. Genet. 53:119-125(1998)
Cited for: INVOLVEMENT IN SUSCEPTIBILITY TO NTDFS; VARIANTS NTDFS HIS-293 AND GLN-653;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.