Variant position: 12 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 MVSKLSQLQTE LLAALLESGLSKEALIQALGE
Mouse MVSKLSQLQTE LLAALLESGLSKEALIQALGE
Rat MVSKLSQLQTE LLAALLESGLSKEALIQALGE
Chicken MVSKLSHLQVE LLGALLESGLTKETLIKGLSE
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.
4 – 19
Mutations in the hepatocyte nuclear factor-1alpha/MODY3 gene in Japanese subjects with early- and late-onset NIDDM.
Iwasaki N.; Oda N.; Ogata M.; Hara M.; Hinokio Y.; Oda Y.; Yamagata K.; Kanematsu S.; Ohgawara H.; Omori Y.; Bell G.I.;
Cited for: VARIANTS MODY3 HIS-12; GLN-131; GLN-205 AND CYS-263; VARIANT NIDDM ASP-191;
Identification of mutations in the hepatocyte nuclear factor-1alpha gene in Japanese subjects with early-onset NIDDM and functional analysis of the mutant proteins.
Yamada S.; Tomura H.; Nishigori H.; Sho K.; Mabe H.; Iwatani N.; Takumi T.; Kito Y.; Moriya N.; Muroya K.; Ogata T.; Onigata K.; Morikawa A.; Inoue I.; Takeda J.;
Cited for: VARIANTS MODY3 HIS-12; ASN-158; GLN-159 AND CYS-203;
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;
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.