UniProtKB/SwissProt variant VAR

Variant information

Variant position:

447

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 Alanine (A) to Glycine (G) at position 447 (A447G, p.Ala447Gly).

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 glycine (G)

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

Variant description:

In CHTD1; Increase in transcriptional activator activity; decrease in nuclear localization.

Any additional useful information about the variant.

Sequence information

Variant position:

447

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

Protein sequence length:

467

The length of the canonical sequence.

Location on the sequence:

SSTPPAIASANSKDTTKTPS A VQTSTSHNPGLPPNFNEWYV

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                         SSTPPAIASANSKDTTKTPSAVQ--TSTSHNPG-LPPNFNEWYV

Mouse                         SSTPPAIASANSKDTTKTPSAVQ--TSTSHNPG-LPPNFNE

Xenopus laevis                SATPPAMVSANSEEPSKNSSATHQTNNNSHNTGLLPPNFNE

Xenopus tropicalis            SATPPAMVSANSEEPSKNSSATHQTNNSSHNTGLLPPNFNE

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
Chain	1 – 467	Zinc finger protein ZIC 3
Region	404 – 467	Disordered
Compositional bias	413 – 459	Polar residues
Alternative sequence	409 – 467	VHESQGSDSSPAASSGYESSTPPAIASANSKDTTKTPSAVQTSTSHNPGLPPNFNEWYV -> CCPAWYPGQSLIPDEELDTDVGMQQPALHNTTYPKCRVNAEPTVQEMIY. In isoform 2.

Literature citations

Genetic and functional analyses of ZIC3 variants in congenital heart disease.
Cowan J.; Tariq M.; Ware S.M.;
Hum. Mutat. 35:66-75(2014)
Cited for: VARIANTS CYS-17 AND ALA-53 INS; VARIANTS CHTD1 CYS-109; ALA-217 AND GLY-447; VARIANT HTX1 ALA-217; VARIANT VACTERLX ASN-318; CHARACTERIZATION OF VARIANTS CYS-17 AND ALA-53 INS; CHARACTERIZATION OF VARIANTS CHTD1 CYS-109 AND GLY-447; CHARACTERIZATION OF VARIANT CHTD1 ALA-217; CHARACTERIZATION OF VARIANT HTX1 ALA-217; CHARACTERIZATION OF VARIANT VACTERLX ASN-318;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot O60481: Variant p.Ala447Gly