Sequence information
Variant position: 576 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:
EQKAEREKERRMANNARERL
R VRDINEAFKELGRMVQLHLK
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 EQKAEREKERRMANNARERLR VRDINEAFKELGRMVQLHLK
EQKAEREKERRMANNARERLR VRDINEAFKELGRMVQLHLK
Mouse EQKAEREKERRMANNARERLR VRDINEAFKELGRMVQLHLK
Rat EQKAEREKERRMANNARERLR VRDINEAFKELGRMVQLHLK
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
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction.
Amiel J.; Rio M.; de Pontual L.; Redon R.; Malan V.; Boddaert N.; Plouin P.; Carter N.P.; Lyonnet S.; Munnich A.; Colleaux L.;
Am. J. Hum. Genet. 80:988-993(2007)
Cited for: VARIANTS PTHS TRP-576 AND GLN-576;
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;
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.