Variant position: 358 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 NNSFSSNPSTPVGSPPSLSA GTAVWSRNGGQASSSPNYEGP
Mouse NNSFSSNPSTPVGSPPSLSA GTAVWSRNGGQASSSPNYEGP
Rat NNSFSSNPSTPVGSPPSLSA GTAVWSRNGGQASSSPNYEGP
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
336 – 379 Disordered
372 – 372 Phosphoserine
357 – 357 Missing. In isoform E-.
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;
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients.
Zweier C.; Sticht H.; Bijlsma E.K.; Clayton-Smith J.; Boonen S.E.; Fryer A.; Greally M.T.; Hoffmann L.; den Hollander N.S.; Jongmans M.; Kant S.G.; King M.D.; Lynch S.A.; McKee S.; Midro A.T.; Park S.M.; Ricotti V.; Tarantino E.; Wessels M.; Peippo M.; Rauch A.;
J. Med. Genet. 45:738-744(2008)
Cited for: VARIANTS PTHS VAL-358; PRO-574 AND HIS-578;
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