Sequence information
Variant position: 574 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:
TPEQKAEREKERRMANNARE
R LRVRDINEAFKELGRMVQLH
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 TPEQKAEREKERRMANNARER LRVRDINEAFKELGRMVQLH
TPEQKAEREKERRMANNARER LRVRDINEAFKELGRMVQLH
Mouse TPEQKAEREKERRMANNARER LRVRDINEAFKELGRMVQLH
Rat TPEQKAEREKERRMANNARER LRVRDINEAFKELGRMVQLH
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.
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;
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;
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum.
Whalen S.; Heron D.; Gaillon T.; Moldovan O.; Rossi M.; Devillard F.; Giuliano F.; Soares G.; Mathieu-Dramard M.; Afenjar A.; Charles P.; Mignot C.; Burglen L.; Van Maldergem L.; Piard J.; Aftimos S.; Mancini G.; Dias P.; Philip N.; Goldenberg A.; Le Merrer M.; Rio M.; Josifova D.; Van Hagen J.M.; Lacombe D.; Edery P.; Dupuis-Girod S.; Putoux A.; Sanlaville D.; Fischer R.; Drevillon L.; Briand-Suleau A.; Metay C.; Goossens M.; Amiel J.; Jacquette A.; Giurgea I.;
Hum. Mutat. 33:64-72(2012)
Cited for: VARIANTS PTHS TRP-565; GLY-572; GLN-572; HIS-574; PRO-574; TRP-576; GLN-576; PRO-578; PRO-583 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.