UniProtKB/SwissProt variant VAR

Variant information

Variant position:

423

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 Leucine (L) to Valine (V) at position 423 (L423V, p.Leu423Val).

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:

Similar physico-chemical property. Both residues are medium size and hydrophobic.

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

BLOSUM score:

1

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:

Adenylosuccinase deficiency (ADSLD) [MIM:103050]: An autosomal recessive disorder characterized by the accumulation in the body fluids of succinylaminoimidazole-carboxamide riboside (SAICA-riboside) and succinyladenosine (S-Ado). Most children display marked psychomotor delay, often accompanied by epilepsy or autistic features, or both, although some patients may be less profoundly retarded. Occasionally, growth retardation and muscular wasting are also present. {ECO:0000269|PubMed:10090474, ECO:0000269|PubMed:10888601, ECO:0000269|PubMed:10958654, ECO:0000269|PubMed:12368987, ECO:0000269|PubMed:12833398, ECO:0000269|PubMed:1302001, ECO:0000269|PubMed:19405474, ECO:0000269|PubMed:22812634, ECO:0000269|PubMed:9266401, ECO:0000269|PubMed:9545543}. 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 ADSLD; moderate.

Any additional useful information about the variant.

Sequence information

Variant position:

423

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

Protein sequence length:

484

The length of the canonical sequence.

Location on the sequence:

IRVLSQQAASVVKQEGGDND L IERIQVDAYFSPIHSQLDHL

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                         IRVLSQQAASVVKQEGGDNDLIERIQVDAYFSPIHSQLDHL

Mouse                         IRVLSQQAAAVVKQEGGDNDLIERIRADAYFSPIHSQLEHL

Bovine                        IRVLSQQAAAVVKQEGGDNDLIERIQADAYFSPIHSQLDHL

Chicken                       IRVLSQQAAAVVKQEGGDNDFIARVRADPYFSPIHEHLDSL

Caenorhabditis elegans        IRKTALEAKQLQATQKVD---IRQTMADPFFDSVRDRVVGL

Slime mold                    LKELTRVSGSKKITESDIQTFIDSLSIP---DDIKSELK-L

Baker's yeast                 IRVLSHQAAAVVKEEGGENDLIERVKRDEFFKPIWEELDSL

Fission yeast                 IRVLSHQAGRVVKEEGGDNDLIERIKNTPYFAPIYDELDSL

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	2 – 484	Adenylosuccinate lyase
Cross	415 – 415	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in SUMO1)
Alternative sequence	398 – 456	Missing. In isoform 2.
Helix	423 – 429

Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

UniProtKB/Swiss-Prot P30566: Variant p.Leu423Val