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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P35680: Variant p.Arg276Gly

Hepatocyte nuclear factor 1-beta
Gene: HNF1B
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Variant information Variant position: help 276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glycine (G) at position 276 (R276G, p.Arg276Gly). 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: help Change from large size and basic (R) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -2 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: help In RCAD; no impact on interaction with PCBD1; reduced coactivation by PCBD1. Any additional useful information about the variant.


Sequence information Variant position: help 276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 557 The length of the canonical sequence.
Location on the sequence: help PSKEEREALVEECNRAECLQ R GVSPSKAHGLGSNLVTEVRV 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: help 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
DNA binding 231 – 311 Homeobox; HNF1-type



Literature citations
Large genomic rearrangements in the hepatocyte nuclear factor-1beta (TCF2) gene are the most frequent cause of maturity-onset diabetes of the young type 5.
Bellanne-Chantelot C.; Clauin S.; Chauveau D.; Collin P.; Daumont M.; Douillard C.; Dubois-Laforgue D.; Dusselier L.; Gautier J.-F.; Jadoul M.; Laloi-Michelin M.; Jacquesson L.; Larger E.; Louis J.; Nicolino M.; Subra J.-F.; Wilhem J.-M.; Young J.; Velho G.; Timsit J.;
Diabetes 54:3126-3132(2005)
Cited for: VARIANTS RCAD CYS-76; PRO-112; GLU-136; GLN-164; HIS-165; GLN-235; GLY-276; ASP-285; CYS-295; HIS-295 AND SER-370; Mutations in PCBD1 cause hypomagnesemia and renal magnesium wasting.
Ferre S.; de Baaij J.H.; Ferreira P.; Germann R.; de Klerk J.B.; Lavrijsen M.; van Zeeland F.; Venselaar H.; Kluijtmans L.A.; Hoenderop J.G.; Bindels R.J.;
J. Am. Soc. Nephrol. 25:574-586(2014)
Cited for: CHARACTERIZATION OF VARIANTS RCAD GLU-156 AND GLY-276; FUNCTION; INTERACTION WITH PCBD1; MUTAGENESIS OF 1-MET--LEU-30 AND GLN-253;
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.