Variant position: 296 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 DIDEHTTPVEGSLSWTLGKR RRAAMD----FPGAKVIVPQLKGRV-
Mouse DIDEHTTPVEGSLSWTLGKR RRIAMD----FPGAKIIVPQL
Bovine DIDEHTTPVEGSLSWTLGKR RRAAMD----FPGASVIVPQL
Chicken DIDESTTPVEAGLLWTLGKR RRTAMD----FPGAAIIMEQV
Slime mold DLNDDITPIEASLNWLISKR RREEGG----FPGASIIQKQL
Baker's yeast ELDESITPVEAALNWVISKS RRDLVDQKYWFNGYAKIMDQL
Fission yeast DIDDTTSPVEGSLSWIIGKR RRKEGG----FVGSSRILKEL
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
294 – 299
Nonketotic Hyperglycinemia: functional assessment of missense variants in GLDC to understand phenotypes of the disease.
Bravo-Alonso I.; Navarrete R.; Arribas-Carreira L.; Perona A.; Abia D.; Couce M.L.; Garcia-Cazorla A.; Morais A.; Domingo R.; Ramos M.A.; Swanson M.A.; Van Hove J.L.; Ugarte M.; Perez B.; Perez-Cerda C.; Rodriguez-Pombo P.;
Hum. Mutat. 38:678-691(2017)
Cited for: INVOLVEMENT IN NKH; VARIANTS NKH TRP-94; CYS-222 AND CYS-296;
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