Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P37275: Variant p.Asn78Thr

Zinc finger E-box-binding homeobox 1
Gene: ZEB1
Feedback?
Variant information Variant position: help 78 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 Asparagine (N) to Threonine (T) at position 78 (N78T, p.Asn78Thr). 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 polar. 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 FECD6; no effect on protein expression; no effect on nuclear localization. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 78 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1124 The length of the canonical sequence.
Location on the sequence: help EDDLPTDQTVLPGRSSEREG N AKNCWEDDRKEGQEILGPEA 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                         EDDLPTDQTVLPGRSSEREGNAKNCWEDDRKEGQEILGPEA

Mouse                         DDELPADQTVLPG-GSDRGGGAKNCWQDN------------

Rat                           DDELPTDQTVLPG-GSDRAGSAKNCWQDD------------

Chicken                       EDDLPTDHTVLPE-NSEREGSTNSCWEDEGKETKEILGPEA
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 – 1124 Zinc finger E-box-binding homeobox 1
Region 1 – 124 Disordered
Compositional bias 77 – 95 Basic and acidic residues
Alternative sequence 20 – 87 VTNYNTVVETNSDSDDEDKLHIVEEESVTDAADCEGVPEDDLPTDQTVLPGRSSEREGNAKNCWEDDR -> G. In isoform 3.
Alternative sequence 87 – 87 R -> TG. In isoform 2 and isoform 5.



Literature citations
Missense mutations in TCF8 cause late-onset Fuchs corneal dystrophy and interact with FCD4 on chromosome 9p.
Riazuddin S.A.; Zaghloul N.A.; Al-Saif A.; Davey L.; Diplas B.H.; Meadows D.N.; Eghrari A.O.; Minear M.A.; Li Y.J.; Klintworth G.K.; Afshari N.; Gregory S.G.; Gottsch J.D.; Katsanis N.;
Am. J. Hum. Genet. 86:45-53(2010)
Cited for: VARIANTS FECD6 THR-78; ALA-649; PRO-810; PRO-840 AND THR-905; Mutational spectrum of the ZEB1 gene in corneal dystrophies supports a genotype-phenotype correlation.
Lechner J.; Dash D.P.; Muszynska D.; Hosseini M.; Segev F.; George S.; Frazer D.G.; Moore J.E.; Kaye S.B.; Young T.; Simpson D.A.; Churchill A.J.; Heon E.; Willoughby C.E.;
Invest. Ophthalmol. Vis. Sci. 54:3215-3223(2013)
Cited for: INVOLVEMENT IN FECD6 AND PPCD3; VARIANT FECD6 HIS-640; CHARACTERIZATION OF VARIANTS FECD6 THR-78 AND HIS-640; VARIANT GLU-525; Functional impact of ZEB1 mutations associated with posterior polymorphous and Fuchs' endothelial corneal dystrophies.
Chung D.W.; Frausto R.F.; Ann L.B.; Jang M.S.; Aldave A.J.;
Invest. Ophthalmol. Vis. Sci. 55:6159-6166(2014)
Cited for: VARIANTS FECD6 THR-78; ALA-649; SER-696; PRO-810; PRO-840 AND GLY-905; CHARACTERIZATION OF VARIANTS FECD6 THR-78; ALA-649; SER-696; PRO-810; PRO-840 AND GLY-905; SUBCELLULAR LOCATION;
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.