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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q16650: Variant p.Lys228Glu

T-box brain protein 1
Gene: TBR1
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Variant information Variant position: help 228 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 Lysine (K) to Glutamate (E) at position 228 (K228E, p.Lys228Glu). 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 basic (K) to medium size and acidic (E) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 1 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 IDDAS; de novo variant; localizes to the nucleus but forms abnormal aggregates; no effect on transcriptional repression of FEZF2; does not affect homodimerization; abolishes interaction with FOXP2; does not affect interaction with BCL11A. Any additional useful information about the variant.


Sequence information Variant position: help 228 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 682 The length of the canonical sequence.
Location on the sequence: help LCNRPLWLKFHRHQTEMIIT K QGRRMFPFLSFNISGLDPTA 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                         LCNRPLWLKFHRHQTEMIITKQGRRMFPFLSFNISGLDPTA

Mouse                         LCNRPLWLKFHRHQTEMIITKQGRRMFPFLSFNISGLDPTA
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 – 682 T-box brain protein 1
DNA binding 213 – 393 T-box
Alternative sequence 1 – 287 Missing. In isoform 2.



Literature citations
De novo TBR1 mutations in sporadic autism disrupt protein functions.
Deriziotis P.; O'Roak B.J.; Graham S.A.; Estruch S.B.; Dimitropoulou D.; Bernier R.A.; Gerdts J.; Shendure J.; Eichler E.E.; Fisher S.E.;
Nat. Commun. 5:4954-4954(2014)
Cited for: FUNCTION; SUBCELLULAR LOCATION; HOMODIMERIZATION; INTERACTION WITH FOXP2; INVOLVEMENT IN IDDAS; VARIANTS IDDAS GLU-178; GLU-228; ARG-418 AND ARG-542; CHARACTERIZATION OF VARIANTS IDDAS GLU-178; GLU-228; MET-356; HIS-374; ARG-418 AND ARG-542; Functional characterization of TBR1 variants in neurodevelopmental disorder.
den Hoed J.; Sollis E.; Venselaar H.; Estruch S.B.; Deriziotis P.; Fisher S.E.;
Sci. Rep. 8:14279-14279(2018)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INTERACTION WITH FOXP1; FOXP2 AND BCL11A; CHARACTERIZATION OF VARIANTS IDDAS GLU-228; ARG-271; CYS-271; MET-356; HIS-374; GLU-389; ARG-418 AND ARG-542; MUTAGENESIS OF 394-ASN--SER-682 AND 568-SER--SER-682; Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
O'Roak B.J.; Vives L.; Fu W.; Egertson J.D.; Stanaway I.B.; Phelps I.G.; Carvill G.; Kumar A.; Lee C.; Ankenman K.; Munson J.; Hiatt J.B.; Turner E.H.; Levy R.; O'Day D.R.; Krumm N.; Coe B.P.; Martin B.K.; Borenstein E.; Nickerson D.A.; Mefford H.C.; Doherty D.; Akey J.M.; Bernier R.; Eichler E.E.; Shendure J.;
Science 338:1619-1622(2012)
Cited for: VARIANT IDDAS GLU-228; Recurrent de novo mutations implicate novel genes underlying simplex autism risk.
O'Roak B.J.; Stessman H.A.; Boyle E.A.; Witherspoon K.T.; Martin B.; Lee C.; Vives L.; Baker C.; Hiatt J.B.; Nickerson D.A.; Bernier R.; Shendure J.; Eichler E.E.;
Nat. Commun. 5:5595-5595(2014)
Cited for: VARIANTS IDDAS GLU-228; CYS-271; HIS-374 AND GLU-389;
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.