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UniProtKB/Swiss-Prot P43694: Variant p.Ala6Val

Transcription factor GATA-4
Gene: GATA4
Variant information

Variant position:  6
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Alanine (A) to Valine (V) at position 6 (A6V, p.Ala6Val).
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 small size and hydrophobic (A) to medium size and hydrophobic (V)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Ventricular septal defect 1 (VSD1) [MIM:614429]: A common form of congenital cardiovascular anomaly that may occur alone or in combination with other cardiac malformations. It can affect any portion of the ventricular septum, resulting in abnormal communications between the two lower chambers of the heart. Classification is based on location of the communication, such as perimembranous, inlet, outlet (infundibular), central muscular, marginal muscular, or apical muscular defect. Large defects that go unrepaired may give rise to cardiac enlargement, congestive heart failure, pulmonary hypertension, Eisenmenger's syndrome, delayed fetal brain development, arrhythmias, and even sudden cardiac death. {ECO:0000269|PubMed:18672102, ECO:0000269|PubMed:21110066, ECO:0000269|PubMed:21637914, ECO:0000269|PubMed:22101736}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In VSD1.
Any additional useful information about the variant.

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



Sequence information

Variant position:  6
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  442
The length of the canonical sequence.

Location on the sequence:   MYQSL  A MAANHGPPPGAYEAGGPGAF
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                         MYQSLAMAANHGPPPGAYEAGGPGAF

                              MYQSLAMAANHGPPPGAYEAGGPGAF

Mouse                         MYQSLAMAANHGPPPGAYEAGGPGAF

Rat                           MYQSLAMAANHGPPPGAYEAGGPGAF

Xenopus laevis                MYQSIAMATNHGPS--GYE--GTGSF

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 – 442 Transcription factor GATA-4


Literature citations

GATA4 mutations in 486 Chinese patients with congenital heart disease.
Zhang W.; Li X.; Shen A.; Jiao W.; Guan X.; Li Z.;
Eur. J. Med. Genet. 51:527-535(2008)
Cited for: VARIANTS VSD1 VAL-6; SER-46 DEL; SER-163; LYS-359; THR-429 AND VAL-442; VARIANTS TOF ALA-118 INS AND GLN-407;

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.