Variant position: 173 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 LELIKETGVPIAGRHAVVVG RSKIVGAPMHDLLLWNNATVT
Mouse LELIKEAGVQIAGRHAVVVG RSKIVGAPMHDLLLWNNATVT
Rat LELIKETGVQIAGRHAVVVG RSKIVGAPMHDLLLWNNATVT
Drosophila LELIRRSGVEIAGARAVVLG RSKIVGTPAAELLKWANATVT
Baker's yeast IELLHKANVTIEGSRSVVIG RSDIVGSPVAELLKSLNSTVT
Fission yeast MCILKHYGINVQGKHAVVIG RSNIVGRPMSILLEKANATVT
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
172 – 174 NADP
2 – 305 Methylenetetrahydrofolate dehydrogenase and cyclohydrolase
Novel inborn error of folate metabolism: identification by exome capture and sequencing of mutations in the MTHFD1 gene in a single proband.
Watkins D.; Schwartzentruber J.A.; Ganesh J.; Orange J.S.; Kaplan B.S.; Nunez L.D.; Majewski J.; Rosenblatt D.S.;
J. Med. Genet. 48:590-592(2011)
Cited for: INVOLVEMENT IN CIMAH; VARIANT CIMAH CYS-173;
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