Variant position: 94 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 QHCSLFDVSHMLQTKILGSD RVKLMESLVVGDIAELRPNQG
Mouse RHCSLFDVSHMLQTKIFGCD RVKLLESVVVGDIAELRPNQG
Bovine QHCSLFDVSHMLQTKIFGCD RVKLMESLVVGDIAELKPNQG
Chicken RHCSLFDVSHMLQTRVYGRD RVRFLESLVVGDIAELRPGQG
Slime mold KESGLFDVSHMGQLRIHGKD RVKFFESIVVADLQALPTGHS
Baker's yeast TNAGLFDVSHMLQSKLSGPH SVKFLQRVTPTDFNALPVGSG
Fission yeast EHSGLFDVSHMVQWFVRGEN ATAYLESITPSSLKELKPFHS
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
94 – 101
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;
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.