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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9ULV5: Variant p.Leu114Pro

Heat shock factor protein 4
Gene: HSF4
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Variant information Variant position: help 114 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 Leucine (L) to Proline (P) at position 114 (L114P, p.Leu114Pro). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 CTRCT5; decreased binding to the DNASE2B promoter and decreased DNASE2B expression; impaired RAD51 induction. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 492 The length of the canonical sequence.
Location on the sequence: help PERDHVEFQHPSFVRGREQL L ERVRRKVPALRGDDGRWRPE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human                         PERDHVEFQHPSFVRGREQLLERVRRKVPALRGDDGRWRPE

                              PERDHVEFQHPSFVRGREQLLERVRRKVPALRSDDGRWRPE

Mouse                         PERDHVEFQHPSFVRGREQLLERVRRKVPALRGDDSRWRPE

Zebrafish                     PERDDTEFQHLYFLQGHEHLLEHIKRKVSIVKSEETKVRQE

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 – 492 Heat shock factor protein 4
DNA binding 17 – 121
Helix 113 – 116



Literature citations
HSF4 is involved in DNA damage repair through regulation of Rad51.
Cui X.; Zhang J.; Du R.; Wang L.; Archacki S.; Zhang Y.; Yuan M.; Ke T.; Li H.; Li D.; Li C.; Li D.W.; Tang Z.; Yin Z.; Liu M.;
Biochim. Biophys. Acta 1822:1308-1315(2012)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS CTRCT5 ASP-19; VAL-86; PRO-114 AND CYS-119; HSF4 regulates DLAD expression and promotes lens de-nucleation.
Cui X.; Wang L.; Zhang J.; Du R.; Liao S.; Li D.; Li C.; Ke T.; Li D.W.; Huang H.; Yin Z.; Tang Z.; Liu M.;
Biochim. Biophys. Acta 1832:1167-1172(2013)
Cited for: FUNCTION; CHARACTERIZATION OF VARIANTS CTRCT5 ASP-19; VAL-86; PRO-114 AND CYS-119; Mutant DNA-binding domain of HSF4 is associated with autosomal dominant lamellar and Marner cataract.
Bu L.; Jin Y.; Shi Y.; Chu R.; Ban A.; Eiberg H.; Andres L.; Jiang H.; Zheng G.; Qian M.; Cui B.; Xia Y.; Liu J.; Hu L.; Zhao G.; Hayden M.R.; Kong X.;
Nat. Genet. 31:276-278(2002)
Cited for: VARIANTS CTRCT5 ASP-19; VAL-86; PRO-114 AND CYS-119; TISSUE SPECIFICITY; Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract.
Hansen L.; Mikkelsen A.; Nuernberg P.; Nuernberg G.; Anjum I.; Eiberg H.; Rosenberg T.;
Invest. Ophthalmol. Vis. Sci. 50:3291-3303(2009)
Cited for: VARIANTS CTRCT5 PRO-114 AND CYS-119;
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.