Variant position: 131 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 PEDAMTGTAEMLFDYISECI SDFLDKHQMKHKKLPLGFTFS
Mouse PEDAMTGTAEMLFDYISECI SDFLDKHQMKHKKLPLGFTFS
Rat PEDAMTGTAEMLFDYISECI SDFLDKHQMKHKKLPLGFTFS
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.
Identification of glucokinase mutations in subjects with gestational diabetes mellitus.
Stoffel M.; Bell K.L.; Blackburn C.L.; Powell K.L.; Seo T.S.; Takeda J.; Vionnet N.; Xiang K.-S.; Gidh-Jain M.; Pilkis S.J.; Ober C.; Bell G.I.;
Cited for: VARIANT MODY2 PRO-131;
Structure/function studies of human beta-cell glucokinase. Enzymatic properties of a sequence polymorphism, mutations associated with diabetes, and other site-directed mutants.
Takeda J.; Gidh-Jain M.; Xu L.Z.; Froguel P.; Velho G.; Vaxillaire M.; Cohen D.; Shimada F.; Makino H.; Nishi S.; Stoffel M.; Vionnet N.; St Charles R.; Harrison R.W.; Weber I.T.; Bell G.I.; Pilkis S.J.;
J. Biol. Chem. 268:15200-15204(1993)
Cited for: VARIANT ASN-4; VARIANTS MODY2 LYS-70; PRO-131; THR-188; ARG-257 AND GLU-414; MUTAGENESIS OF GLU-177; GLU-256 AND LYS-414; CATALYTIC ACTIVITY; FUNCTION;
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.