Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96EK4: Variant p.Phe80Leu

THAP domain-containing protein 11
Gene: THAP11
Feedback?
Variant information Variant position: help 80 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 Phenylalanine (F) to Leucine (L) at position 80 (F80L, p.Phe80Leu). 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 aromatic (F) to medium size and hydrophobic (L) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 MAHCL; likely pathogenic; promotes a neuronal fate at the expense of neural precursors, when tested in a heterologous system; results in a selective disruption of THAP11 DNA binding at specific promoters in HEK293 cells and does not create novel promoter binding sites; may predominantly affect transcription activation rather than repression, among others strongly decreases MMACHC gene expression; decreased protein, but not transcript, levels; decreases cell proliferation, when tested into HEK293 cell line. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 80 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 314 The length of the canonical sequence.
Location on the sequence: help LCSVHFQGGRKTYTVRVPTI F PLRGVNERKVARRPAGAAAA 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                         LCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA

Mouse                         LCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA

Bovine                        LCSVHFQGGRKTYTVRVPTIFPLRGVNERKVARRPAGAAAA

Xenopus laevis                VCSLHFQGGRKSYSIKVPTIFPLRGVNEKRTRR-----SST

Xenopus tropicalis            VCSLHFQGGRKSYSIKVPTIFPLRGVNEKRTRR-----SST

Zebrafish                     VCSVHFPGGRKTYTIRVPTLFPLRGVNERRSRR-----GRS
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 – 314 THAP domain-containing protein 11
Zinc finger 1 – 80 THAP-type



Literature citations
THAP11F80L cobalamin disorder-associated mutation reveals normal and pathogenic THAP11 functions in gene expression and cell proliferation.
Dehaene H.; Praz V.; Lhote P.; Lopes M.; Herr W.;
PLoS ONE 15:e0224646-e0224646(2020)
Cited for: INTERACTION WITH HCFC1; HOMODIMERIZATION; CHARACTERIZATION OF VARIANT MAHCL LEU-80; Mutations in THAP11 cause an inborn error of cobalamin metabolism and developmental abnormalities.
Quintana A.M.; Yu H.C.; Brebner A.; Pupavac M.; Geiger E.A.; Watson A.; Castro V.L.; Cheung W.; Chen S.H.; Watkins D.; Pastinen T.; Skovby F.; Appel B.; Rosenblatt D.S.; Shaikh T.H.;
Hum. Mol. Genet. 26:2838-2849(2017)
Cited for: INVOLVEMENT IN MAHCL; VARIANT MAHCL LEU-80;
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.