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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
Type of variant: help LP/P [Disclaimer]
Residue change: help From Aspartate (D) to Glycine (G) at position 86 (D86G, p.Asp86Gly).
Physico-chemical properties: help Change from medium size and acidic (D) to glycine (G)
BLOSUM score: help -1
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.
Other resources: help


Sequence information Variant position: help 86
Protein sequence length: help 244
Location on the sequence: help CDKHKSILLKNGRDPGEARP D ITHQSLLMLMDSPLNRAGLL
Sequence annotation in neighborhood: help
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.