Sequence information
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:
LELIKETGVPIAGRHAVVVG
R SKIVGAPMHDLLLWNNATVT
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 LELIKETGVPIAGRHAVVVGR SKIVGAPMHDLLLWNNATVT
Mouse LELIKEAGVQIAGRHAVVVGR SKIVGAPMHDLLLWNNATVT
Rat LELIKETGVQIAGRHAVVVGR SKIVGAPMHDLLLWNNATVT
Drosophila LELIRRSGVEIAGARAVVLGR SKIVGTPAAELLKWANATVT
Baker's yeast IELLHKANVTIEGSRSVVIGR SDIVGSPVAELLKSLNSTVT
Fission yeast MCILKHYGINVQGKHAVVIGR SNIVGRPMSILLEKANATVT
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
Chain
1 – 935
C-1-tetrahydrofolate synthase, cytoplasmic
Chain
2 – 935
C-1-tetrahydrofolate synthase, cytoplasmic, N-terminally processed
Region
2 – 291
Methylenetetrahydrofolate dehydrogenase and methenyltetrahydrofolate cyclohydrolase (D/C) domain
Binding site
172 – 174
Literature citations
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;
Disclaimer:
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.