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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O95365: Variant p.Cys384Trp

Zinc finger and BTB domain-containing protein 7A
Gene: ZBTB7A
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Variant information Variant position: help 384 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 Cysteine (C) to Tryptophan (W) at position 384 (C384W, p.Cys384Trp). 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 medium size and polar (C) to large size and aromatic (W) 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 MNDLFH. Any additional useful information about the variant.


Sequence information Variant position: help 384 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 584 The length of the canonical sequence.
Location on the sequence: help VYPAWSQKVEKKIRAKAFQK C PICEKVIQGAGKLPRHIRTH 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                         VYPAWSQKVEKKIRAKAFQKCPICEKVIQGAGKLPRHIRTH

Mouse                         VYPAWSQKGEKKIRAKAFQKCPICEKVIQGAGKLPRHIRTH

Rat                           VYPAWSQKGEKKIRAKAFQKCPICEKVIQGAGKLPRHIRTH

Chicken                       VYPSWSQKVEKKIRAKAFQKCPICAKVIQGAGKLPRHIRTH
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 – 584 Zinc finger and BTB domain-containing protein 7A
Zinc finger 382 – 404 C2H2-type 1
Region 277 – 584 Mediates interaction with KHDRBS1
Region 349 – 584 Mediates interaction with RELA
Region 377 – 584 Mediates interaction with SMAD4
Mutagenesis 371 – 371 K -> R. No effect on sumoylation with SUMO1. No effect on promoter binding.
Mutagenesis 377 – 377 R -> L. No effect on transcription repressor activity. No effect on nuclear localization.
Mutagenesis 379 – 379 K -> R. No effect on sumoylation with SUMO1. Decreased transcription repression activity. No effect on promoter binding.
Mutagenesis 383 – 383 K -> R. No effect on sumoylation with SUMO1. No effect on promoter binding.
Mutagenesis 387 – 387 C -> F. Decreased transcription repressor activity. No effect on nuclear localization.
Mutagenesis 391 – 391 I -> L. No effect on transcription repressor activity. No effect on nuclear localization.
Mutagenesis 396 – 396 K -> R. No effect on sumoylation with SUMO1. Decreased transcription repression activity. No effect on promoter binding.
Mutagenesis 399 – 399 R -> L. Decreased transcription repressor activity, dominant negative effect. Increased glycolysis and cell proliferation, dominant negative effect. No effect on nuclear localization.
Mutagenesis 402 – 402 R -> H. Decreased transcription repressor activity. Acts as a dominant negative. No effect on nuclear localization.
Mutagenesis 403 – 403 T -> N. Decreased transcription repressor activity. No effect on nuclear localization.
Mutagenesis 404 – 404 H -> R. Decreased transcription repressor activity. Acts as a dominant negative. No effect on nuclear localization.



Literature citations
De novo ZBTB7A variant in a patient with macrocephaly, intellectual disability, and sleep apnea: implications for the phenotypic development in 19p13.3 microdeletions.
Ohishi A.; Masunaga Y.; Iijima S.; Yamoto K.; Kato F.; Fukami M.; Saitsu H.; Ogata T.;
J. Hum. Genet. 65:181-186(2020)
Cited for: VARIANT MNDLFH TRP-384; INVOLVEMENT IN MNDLFH;
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.