Variant position: 269 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 403 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 KNPE------VKLAGLAARDSLRLEA GLCLYGNDIDEHTTPVEGSLS
Mouse KNPE------VKLAGLAARDSLRLEA GLCLYGNDIDEHTTP
Bovine KNPE------VKLAGLAARDSLRLEA GLCLYGNDIDEHTTP
Chicken GCPE------VWPAGLAARDSLRLEA GLCLYGNDIDESTTP
Slime mold ATSNASIESGIKPAGLGARDSLRLEA GLCLYGHDLNDDITP
Baker's yeast ANPV------MKPIGLAARDSLRLEA GMCLYGHELDESITP
Fission yeast ADTR------VRPIGLGARDTLRLEA GMCLYGSDIDDTTSP
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
29 – 403 Aminomethyltransferase, mitochondrial
261 – 261 Substrate
Crystal structure of human T-protein of glycine cleavage system at 2.0 A resolution and its implication for understanding non-ketotic hyperglycinemia.
Okamura-Ikeda K.; Hosaka H.; Yoshimura M.; Yamashita E.; Toma S.; Nakagawa A.; Fujiwara K.; Motokawa Y.; Taniguchi H.;
J. Mol. Biol. 351:1146-1159(2005)
Cited for: X-RAY CRYSTALLOGRAPHY (2.0 ANGSTROMS) OF 29-403 ALONE AND IN COMPLEX WITH 5-METHYLTETRAHYDROFOLATE; SUBSTRATE-BINDING SITES; CATALYTIC ACTIVITY; FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS NKH ILE-145; ASP-269 AND HIS-320; MUTAGENESIS OF ASP-129;
Identification of the mutations in the T-protein gene causing typical and atypical nonketotic hyperglycinemia.
Nanao K.; Okamura-Ikeda K.; Motokawa Y.; Danks D.M.; Baumgartner E.R.; Takada G.; Hayasaka K.;
Hum. Genet. 93:655-658(1994)
Cited for: VARIANTS NKH ARG-47; ASP-269 AND HIS-320; INVOLVEMENT IN NKH;
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.