Variant position: 31 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 631 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 ELLAALLESGLSKEALIQAL GEPGPYLLAGEGP-------LDKGESCG
Mouse ELLAALLESGLSKEALIQAL GEPGPYLMVGEGP-------L
Rat ELLAALLESGLSKEALIQAL GEPGPYLMVGDGP-------L
Chicken ELLGALLESGLTKETLIKGL SEAEPYVLQSESQHAINALQT
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 – 631 Hepatocyte nuclear factor 1-alpha
1 – 32 HNF-p1
1 – 31 Dimerization
1 – 117 Missing. In isoform 6.
Mutation screening in 18 Caucasian families suggest the existence of other MODY genes.
Chevre J.-C.; Hani E.H.; Boutin P.; Vaxillaire M.; Blanche H.; Vionnet N.; Pardini V.C.; Timsit J.; Larger E.; Charpentier G.; Beckers D.; Maes M.; Bellanne-Chantelot C.; Velho G.; Froguel P.;
Cited for: VARIANTS MODY3 ASP-31; TRP-159; THR-161; TRP-200 AND TRP-271;
Structural basis of dimerization, coactivator recognition and MODY3 mutations in HNF-1alpha.
Rose R.B.; Bayle J.H.; Endrizzi J.A.; Cronk J.D.; Crabtree G.R.; Alber T.;
Nat. Struct. Biol. 7:744-748(2000)
Cited for: CHARACTERIZATION OF VARIANTS MODY3 HIS-12; ARG-20 AND ASP-31; FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH PCBD1;
Mutations in GCK and HNF-1alpha explain the majority of cases with clinical diagnosis of MODY in Spain.
Estalella I.; Rica I.; Perez de Nanclares G.; Bilbao J.R.; Vazquez J.A.; San Pedro J.I.; Busturia M.A.; Castano L.;
Clin. Endocrinol. (Oxf.) 67:538-546(2007)
Cited for: VARIANTS MODY3 ASP-31; MET-133; 171-ARG--GLN-631 DEL; GLY-271 AND LEU-447;
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