Variant position: 421 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 426 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 LCMACVFEVSNSEHGAQHHI YRLVKD
Mouse LCMACVFEVSNSEHGAQHHI YRLVKD
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 – 426 Transcriptional enhancer factor TEF-1
167 – 426 Transcriptional activation
421 – 421 Y -> A. Important loss of interaction with YAP1.
417 – 424
TEAD mediates YAP-dependent gene induction and growth control.
Zhao B.; Ye X.; Yu J.; Li L.; Li W.; Li S.; Yu J.; Lin J.D.; Wang C.Y.; Chinnaiyan A.M.; Lai Z.C.; Guan K.L.;
Genes Dev. 22:1962-1971(2008)
Cited for: FUNCTION; INTERACTION WITH YAP1; CHARACTERIZATION OF VARIANT SCRA HIS-421;
Structural insights into the YAP and TEAD complex.
Li Z.; Zhao B.; Wang P.; Chen F.; Dong Z.; Yang H.; Guan K.L.; Xu Y.;
Genes Dev. 24:235-240(2010)
Cited for: X-RAY CRYSTALLOGRAPHY (2.8 ANGSTROMS) OF 209-426 IN COMPLEX WITH YAP1; CHARACTERIZATION OF VARIANT SCRA HIS-421; MUTAGENESIS OF TYR-421;
A novel TEAD1 mutation is the causative allele in Sveinsson's chorioretinal atrophy (helicoid peripapillary chorioretinal degeneration).
Fossdal R.; Jonasson F.; Kristjansdottir G.T.; Kong A.; Stefansson H.; Gosh S.; Gulcher J.R.; Stefansson K.;
Hum. Mol. Genet. 13:975-981(2004)
Cited for: VARIANT SCRA HIS-421;
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