UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1803

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 Aspartate (D) to Valine (V) at position 1803 (D1803V, p.Asp1803Val).

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 medium size and acidic (D) to medium size and hydrophobic (V)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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 CDLS1.

Any additional useful information about the variant.

Sequence information

Variant position:

1803

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

Protein sequence length:

2804

The length of the canonical sequence.

Location on the sequence:

ENAIAVRTKAMKCLSEVVAV D PSILARLDMQRGVHGRLMDN

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                         ENAIAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDN

Mouse                         ENAIAVRTKAMKCLSEVVAVDPSILARLDMQRGVHGRLMDN

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 – 2804	Nipped-B-like protein
Repeat	1767 – 1805	HEAT 1
Alternative sequence	1102 – 2804	Missing. In isoform 3.

Literature citations

NIPBL mutational analysis in 120 individuals with Cornelia de Lange syndrome and evaluation of genotype-phenotype correlations.
Gillis L.A.; McCallum J.; Kaur M.; DeScipio C.; Yaeger D.; Mariani A.; Kline A.D.; Li H.; Devoto M.; Jackson L.G.; Krantz I.D.;
Am. J. Hum. Genet. 75:610-623(2004)
Cited for: VARIANTS CDLS1 GLY-1246; PRO-1312; LEU-1789; VAL-1803; THR-1856; CYS-2298; HIS-2298; ARG-2312; ALA-2381; THR-2390 AND HIS-2440; VARIANTS SER-674 AND VAL-1206;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6KC79: Variant p.Asp1803Val