Variant position: 11 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 465 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 MLDDRARMEA AKKEKVEQILAEFQLQEEDLK
Mouse MLDDRARMEA TKKEKVEQILAEFQLQEEDLK
Rat MLDDRARMEA TKKEKVEQILAEFQLQEEDLK
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 – 465 Glucokinase
1 – 15 MLDDRARMEAAKKEK -> MAMDVTRSQAQTALTL. In isoform 2.
1 – 15 MLDDRARMEAAKKEK -> MPRPRSQLPQPNSQ. In isoform 3.
Glucokinase gene variants in the common form of NIDDM.
Chiu K.C.; Tanizawa Y.; Permutt M.A.;
Cited for: VARIANT THR-11;
Molecular genetics of diabetes mellitus in Chinese subjects: identification of mutations in glucokinase and hepatocyte nuclear factor-1alpha genes in patients with early-onset type 2 diabetes mellitus/MODY.
Ng M.C.Y.; Cockburn B.N.; Lindner T.H.; Yeung V.T.F.; Chow C.-C.; So W.-Y.; Li J.K.Y.; Lo Y.M.D.; Lee Z.S.K.; Cockram C.S.; Critchley J.A.J.H.; Bell G.I.; Chan J.C.N.;
Diabet. Med. 16:956-963(1999)
Cited for: VARIANTS MODY2 THR-110; ASP-119 AND VAL-385;
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