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UniProtKB/Swiss-Prot P35680: Variant p.His153Asn

Hepatocyte nuclear factor 1-beta
Gene: HNF1B
Variant information

Variant position:  153
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 Histidine (H) to Asparagine (N) at position 153 (H153N, p.His153Asn).
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:  Similar physico-chemical property. Both residues are medium size and polar.
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 RCAD; has diminished transcriptional activity by loss of DNA binding activity.
Any additional useful information about the variant.



Sequence information

Variant position:  153
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  557
The length of the canonical sequence.

Location on the sequence:   NIPQREVVDVTGLNQSHLSQ  H LNKGTPMKTQKRAALYTWYV
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.

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 – 557 Hepatocyte nuclear factor 1-beta
Domain 93 – 188 POU-specific atypical
Helix 147 – 154


Literature citations

Promoter-specific repression of hepatocyte nuclear factor (HNF)-1beta and HNF-1alpha transcriptional activity by an HNF-1beta missense mutant associated with type 5 maturity-onset diabetes of the young with hepatic and biliary manifestations.
Kitanaka S.; Miki Y.; Hayashi Y.; Igarashi T.;
J. Clin. Endocrinol. Metab. 89:1369-1378(2004)
Cited for: VARIANT RCAD ASN-153; CHARACTERIZATION OF VARIANT RCAD ASN-153;

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.