Variant position: 29 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 667 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human ALGTDKELSDLLDFSAMFSP PVSSGKNGPTSLASGHFTGSN
Mouse ALGTDKELSDLLDFSAMFSP PVSSGKNGPTSLASGHFTGSN
Rat -------------------- ---------------------
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 667 Transcription factor 4
1 – 83 Essential for MYOD1 inhibition
24 – 245 Disordered
28 – 65 Polar residues
1 – 216 Missing. In isoform I-.
1 – 160 Missing. In isoform SEF2-1A.
1 – 130 Missing. In isoform D-.
1 – 102 MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSNVEDRSSSGSWGNGGHPSPSRNYGDGTPYDHMTSRDLGSHDNLSPPFVNSRIQS -> MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLR. In isoform 11.
1 – 49 MHHQQRMAALGTDKELSDLLDFSAMFSPPVSSGKNGPTSLASGHFTGSN -> MEEDSRD. In isoform F-.
1 – 32 MHHQQRMAALGTDKELSDLLDFSAMFSPPVSS -> MKDIFFQFIIARVRKCYSLSCLHTLPVVPTLR. In isoform G-.
24 – 183 Missing. In isoform H-.
24 – 123 Missing. In isoform A-.
Exome sequencing identifies a TCF4 mutation in a Chinese pedigree with symmetrical acral keratoderma.
Chen P.; Sun S.; Zeng K.; Li C.; Wen J.; Liang J.; Tian X.; Jiang Y.; Zhang J.; Zhang S.; Han K.; Han C.; Zhang X.;
J. Eur. Acad. Dermatol. Venereol. 32:1204-1208(2018)
Cited for: POSSIBLE INVOLVEMENT IN SYMMETRICAL ACRAL KERATODERMA; VARIANT THR-29;
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.