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UniProtKB/Swiss-Prot P20823: Variant p.Lys205Gln

Hepatocyte nuclear factor 1-alpha
Gene: HNF1A
Variant information

Variant position:  205
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Lysine (K) to Glutamine (Q) at position 205 (K205Q, p.Lys205Gln).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (K) to medium size and polar (Q)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In MODY3; reduces transcription activation by about 50%.
Any additional useful information about the variant.



Sequence information

Variant position:  205
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:   LIEEPTGDELPTKKGRRNRF  K WGPASQQILFQAYERQKNPS
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                         LIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPS

Mouse                         LIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPS

Rat                           LIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPS

Chicken                       LTEEPMGDDLPTKKGRRNRFKWGPASQQILFQAYERQKNPS

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.

TypePositionsDescription
Chain 1 – 631 Hepatocyte nuclear factor 1-alpha
DNA binding 199 – 279 Homeobox; HNF1-type
Region 183 – 205 Disordered
Region 203 – 206 Interaction with DNA
Motif 197 – 205 Nuclear localization signal
Alternative sequence 120 – 631 Missing. In isoform 8.
Alternative sequence 176 – 278 QFTHAGQGGLIEEPTGDELPTKKGRRNRFKWGPASQQILFQAYERQKNPSKEERETLVEECNRAECIQRGVSPSQAQGLGSNLVTEVRVYNWFANRRKEEAFR -> RRNASREGCPHHRHRGWAPTSSRRCVSTTGLPTGAKKKPSGTSWPWTRTAGPPQGQARDLRCPLTAPLACLHLPSPPVRSTVCAMDSLRPVRLQKYPQAAAVP. In isoform 4.
Mutagenesis 186 – 186 I -> Q. No effect on transcription activation.
Mutagenesis 190 – 190 T -> Q. No effect on transcription activation.
Mutagenesis 202 – 202 N -> D. Reduces transcription activation by 70%.


Literature citations

Diabetes mutations delineate an atypical POU domain in HNF-1alpha.
Chi Y.I.; Frantz J.D.; Oh B.C.; Hansen L.; Dhe-Paganon S.; Shoelson S.E.;
Mol. Cell 10:1129-1137(2002)
Cited for: X-RAY CRYSTALLOGRAPHY (2.6 ANGSTROMS) OF 85-278 IN COMPLEX WITH DNA; FUNCTION; DNA-BINDING; MUTAGENESIS OF ASN-127; GLU-132; PHE-177; ILE-186; THR-190; ASN-202; VAL-246 AND ASN-257; CHARACTERIZATION OF VARIANTS MODY3 PHE-142 AND GLN-205;

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.;
Diabetes 46:1504-1508(1997)
Cited for: VARIANTS MODY3 HIS-12; GLN-131; GLN-205 AND CYS-263; VARIANT NIDDM ASP-191;

Disclaimer: 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.