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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H4W6: Variant p.Pro177Leu

Transcription factor COE3
Gene: EBF3
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Variant information Variant position: help 177 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 Proline (P) to Leucine (L) at position 177 (P177L, p.Pro177Leu). 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 HADDS; according to PubMed:28017373 shows significant loss of transcriptional activator activity while according to PubMed:28017370 shows partial loss of transcriptional activator activity; localizes both in the cytoplasm and the nucleus; decreased chromatin-binding. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 177 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 596 The length of the canonical sequence.
Location on the sequence: help HEIMCSRCCDKKSCGNRNET P SDPVIIDRFFLKFFLKCNQN 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                         HEIMCSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQN

Mouse                         HEIMCSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQN

Xenopus laevis                HEIMCSRCCDKKSCGNRNETPSDPVIIDRFFLKFFLKCNQN
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 – 596 Transcription factor COE3
Site 163 – 163 Interaction with DNA
Site 172 – 172 Interaction with DNA



Literature citations
Mutations in EBF3 disturb transcriptional profiles and cause intellectual disability, ataxia, and facial dysmorphism.
Harms F.L.; Girisha K.M.; Hardigan A.A.; Kortuem F.; Shukla A.; Alawi M.; Dalal A.; Brady L.; Tarnopolsky M.; Bird L.M.; Ceulemans S.; Bebin M.; Bowling K.M.; Hiatt S.M.; Lose E.J.; Primiano M.; Chung W.K.; Juusola J.; Akdemir Z.C.; Bainbridge M.; Charng W.L.; Drummond-Borg M.; Eldomery M.K.; El-Hattab A.W.; Saleh M.A.; Bezieau S.; Cogne B.; Isidor B.; Kuery S.; Lupski J.R.; Myers R.M.; Cooper G.M.; Kutsche K.;
Am. J. Hum. Genet. 100:117-127(2017)
Cited for: VARIANTS HADDS ASP-66; CYS-141; HIS-GLU-ILE-159 INS; ASP-171; LEU-177 AND TRP-209; CHARACTERIZATION OF VARIANTS HADDS ASP-66; CYS-141; HIS-GLU-ILE-159 INS; ASP-171; LEU-177 AND TRP-209; INVOLVEMENT IN HADDS; FUNCTION; SUBCELLULAR LOCATION; De novo mutations in EBF3 cause a neurodevelopmental syndrome.
Sleven H.; Welsh S.J.; Yu J.; Churchill M.E.; Wright C.F.; Henderson A.; Horvath R.; Rankin J.; Vogt J.; Magee A.; McConnell V.; Green A.; King M.D.; Cox H.; Armstrong L.; Lehman A.; Nelson T.N.; Williams J.; Clouston P.; Hagman J.; Nemeth A.H.;
Am. J. Hum. Genet. 100:138-150(2017)
Cited for: VARIANTS HADDS PRO-163; LEU-177 AND ASN-193; CHARACTERIZATION OF VARIANTS HADDS PRO-163; LEU-177 AND ASN-193; FUNCTION;
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.