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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q92979: Variant p.Asp86Gly

Ribosomal RNA small subunit methyltransferase NEP1
Gene: EMG1
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Variant information Variant position: help 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Aspartate (D) to Glycine (G) at position 86 (D86G, p.Asp86Gly). 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: help Change from medium size and acidic (D) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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

Variant description: help In BWCNS; studies in fibroblasts show a dramatically reduced level of EMG1 protein in a BWCNS-affected patient compared to normal fibroblasts although patient fibroblasts do not have complete EMG1 deficiency; the mutation increases dimerization of EMG1 subunits suggesting that aggregation of EMG1 leads to reduced levels of the protein. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 86 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 244 The length of the canonical sequence.
Location on the sequence: help CDKHKSILLKNGRDPGEARP D ITHQSLLMLMDSPLNRAGLL 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.
Sequence annotation in neighborhood: help 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 – 244 Ribosomal RNA small subunit methyltransferase NEP1
Site 84 – 84 Interaction with substrate rRNA
Site 86 – 86 Stabilizes Arg-84
Helix 85 – 97



Literature citations
Mutation of a gene essential for ribosome biogenesis, EMG1, causes Bowen-Conradi syndrome.
Armistead J.; Khatkar S.; Meyer B.; Mark B.L.; Patel N.; Coghlan G.; Lamont R.E.; Liu S.; Wiechert J.; Cattini P.A.; Koetter P.; Wrogemann K.; Greenberg C.R.; Entian K.-D.; Zelinski T.; Triggs-Raine B.;
Am. J. Hum. Genet. 84:728-739(2009)
Cited for: VARIANT BWCNS GLY-86; CHARACTERIZATION OF VARIANT BWCNS GLY-86;
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.