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UniProtKB/Swiss-Prot P28347: Variant p.Tyr421His

Transcriptional enhancer factor TEF-1
Gene: TEAD1
Variant information

Variant position:  421
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Tyrosine (Y) to Histidine (H) at position 421 (Y421H, p.Tyr421His).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and aromatic (Y) to medium size and polar (H)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In SCRA; loss of interaction with YAP1 and also activation by YAP1.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

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:   LCMACVFEVSNSEHGAQHHI  Y RLVKD
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                         LCMACVFEVSNSEHGAQHHIYRLVKD

Mouse                         LCMACVFEVSNSEHGAQHHIYRLVKD

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.

TypePositionsDescription
Chain 1 – 426 Transcriptional enhancer factor TEF-1
Region 167 – 426 Transcriptional activation
Mutagenesis 421 – 421 Y -> A. Important loss of interaction with YAP1.
Beta strand 417 – 424


Literature citations

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;

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.