Variant information:

(Click the titles to show more information.)

Variant position: 33

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

Type of variant: Polymorphism

The variants are classified into three categories: Disease, Polymorphism and Unclassified.

• Disease: Variants have been found in patients and disease-association is reported in literature. However, this classification is not a definitive assessment of variant pathogenicity.
• Polymorphism: No disease-association has been reported.
• Unclassified: Variants have been found in patients but disease-association remains unclear.

Residue change: From Valine (V) to Isoleucine (I) at position 33 (V33I, p.Val33Ile).

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: 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

Other resources: 

Links to websites of interest for the variant.

• IL12Bbase; IL12B mutation db
• GeneReviews
• SeattleSNPs
• Variant rs3213096 [ dbSNP | Ensembl ]

Sequence information:

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Variant position: 33

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

Protein sequence length: 328

The length of the canonical sequence.

Location on the sequence:  LVFLASPLVAIWELKKDVYV  V ELDWYPDAPGEMVVLTCDTP

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                         LVFLASPLVAIWELKKDVYVVELDWYPDAPGEMVVLTCDTP

Rhesus macaque                LVFLASPLMAIWELKKDVYVVELDWYPDAPGEMVVLTCDTP

Mouse                         IVLLVSPLMAMWELEKDVYVVEVDWTPDAPGETVNLTCDTP

Pig                           LVWLASPIVAIWELEKNVYVVELDWYPNAPGEMVVLTCNTP

Bovine                        LVLLASPIVAMWELEKNVYVVELDWYPDAPGETVVLTCDTP

Goat                          LVLLASPIVAIWELEKNVYVVELDWYPNAPGETVVLTCDTP

Sheep                         LVLLASPIVAIWELEKNVYVVELDWYPNAPGETVVLTCDTP

Cat                           LVLLAPPLMAIWELEKNVYVVELDWHPDAPGEMVVLTCNTP

Dog                           LVLLASSLMTIWELEKDVYVVELDWHPDAPGEMVVLTCHTP

Horse                         LVLLASPLMAIWELEKDVYVVELDWYPDAPGEMVVLTCNTP

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	23 – 328	Interleukin-12 subunit beta
Domain	23 – 106	Ig-like C2-type
Beta strand	30 – 36

Literature citations

Submission
SeattleSNPs variation discovery resource;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS ILE-33 AND PHE-298;