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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9UGU0: Variant p.Pro1557Leu

Transcription factor 20
Gene: TCF20
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Variant information Variant position: help 1557 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 1557 (P1557L, p.Pro1557Leu). 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 DDVIBA; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 1557 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1960 The length of the canonical sequence.
Location on the sequence: help GKKKGRPIGSVNKQKKQQQP P PPPPQPPQIPEGSADGEPKP 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                         GKKKGRPIGSVNKQKKQQQPPPPPPQPPQIPEGSADGEPKP

Mouse                         GKKKGRPIGSVNKQKKQQQQPPPPPQPPQMPEGSADGEPKP

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 – 1960 Transcription factor 20
Region 1384 – 1607 Disordered
Compositional bias 1553 – 1570 Pro residues



Literature citations
De novo and rare inherited mutations implicate the transcriptional coregulator TCF20/SPBP in autism spectrum disorder.
Babbs C.; Lloyd D.; Pagnamenta A.T.; Twigg S.R.; Green J.; McGowan S.J.; Mirza G.; Naples R.; Sharma V.P.; Volpi E.V.; Buckle V.J.; Wall S.A.; Knight S.J.; Parr J.R.; Wilkie A.O.;
J. Med. Genet. 51:737-747(2014)
Cited for: INVOLVEMENT IN DDVIBA; VARIANTS DDVIBA GLU-512; LEU-1557; LEU-1937 AND HIS-1942; VARIANTS THR-16; GLN-322 DEL; VAL-405; GLY-722 AND ILE-1165;
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.