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UniProtKB/Swiss-Prot Q9GZL7: Variant p.Glu286Gly

Ribosome biogenesis protein WDR12
Gene: WDR12
Variant information

Variant position:  286
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 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 Glutamate (E) to Glycine (G) at position 286 (E286G, p.Glu286Gly).
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 (E) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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



Sequence information

Variant position:  286
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  423
The length of the canonical sequence.

Location on the sequence:   SDAEEICSASWDHTIRVWDV  E SGSLKSTLTGNKVFNCISYS
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                         S--DAEEICSASWDHTIRVWDVESGSLKSTLTGNKVFNCISYS

Mouse                         S--DAEEICSASWDHTIRVWDVESGGLKSTLTGNKVFNCIS

Rat                           S--DADEVCSASWDHTVRVWDVESGGLKSTLTGNKVFNCIS

Bovine                        S--DAEEICSASWDHTIKVWDVESGSLKSTLTGNKVFNCIS

Xenopus tropicalis            S--DVDEICSASWDHNIKIWDVETGTVKSTLAGNKVFNCIS

Zebrafish                     M--DADELCSASWDHTIRLWDAETGGQKSTLSGSKVFNCIS

Caenorhabditis elegans        CPWNSGHAFSCSWDHTIVEWDLELAGEISRIKGPKSFTSID

Drosophila                    M--DATTLLTGSWDHTLKVWDLSLEGIKTEISTNKSIFDAS

Slime mold                    T--TQFQMLSGSMDSKIRLWDVSTLVANDTIPTPAPLTDLD

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 2 – 423 Ribosome biogenesis protein WDR12
Repeat 255 – 293 WD 4
Region 98 – 423 Sufficient for nucleolar localization
Turn 285 – 288


Literature citations

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

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.