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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P15884: Variant p.Asp535Gly

Transcription factor 4
Gene: TCF4
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Variant information Variant position: help 535 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 Aspartate (D) to Glycine (G) at position 535 (D535G, p.Asp535Gly). 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 acidic (D) to glycine (G) 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 PTHS; loss of function; also expressed in the nucleus with a pattern indistinguishable from the wild-type; does not have a major impact on homodimer formation; affects transcriptional activity in a context-dependent manner. Any additional useful information about the variant.


Sequence information Variant position: help 535 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 667 The length of the canonical sequence.
Location on the sequence: help SDDEGDENLQDTKSSEDKKL D DDKKDIKSITSNNDDEDLTP 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                         SDDEGDENLQDTKSSEDKKLDDDKKDIKSIT----SNNDDEDLTP

                              SDDEGDENLQDTKSSEDKKLDDDKKDIKSIT----SNNDDE

Mouse                         SDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDE

Rat                           SDDEGDENLQDTKSSEDKKLDDDKKDIKSITRSRSSNNDDE
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 – 667 Transcription factor 4
Region 466 – 570 Disordered
Compositional bias 513 – 570 Basic and acidic residues
Modified residue 515 – 515 Phosphoserine
Alternative sequence 545 – 545 T -> TRSRS. In isoform B+delta, isoform SEF2-1A, isoform SEF2-1D, isoform 11 and isoform 13.



Literature citations
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
Forrest M.; Chapman R.M.; Doyle A.M.; Tinsley C.L.; Waite A.; Blake D.J.;
Hum. Mutat. 33:1676-1686(2012)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS PTHS VAL-358; GLY-535; PRO-574; TRP-576 AND VAL-610; Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome.
de Pontual L.; Mathieu Y.; Golzio C.; Rio M.; Malan V.; Boddaert N.; Soufflet C.; Picard C.; Durandy A.; Dobbie A.; Heron D.; Isidor B.; Motte J.; Newburry-Ecob R.; Pasquier L.; Tardieu M.; Viot G.; Jaubert F.; Munnich A.; Colleaux L.; Vekemans M.; Etchevers H.; Lyonnet S.; Amiel J.;
Hum. Mutat. 30:669-676(2009)
Cited for: VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610; CHARACTERIZATION OF VARIANTS PTHS GLY-535; GLY-572; GLN-576 AND VAL-610;
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.