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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NBL1: Variant p.Asp233Glu

Protein O-glucosyltransferase 1
Gene: POGLUT1
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Variant information Variant position: help 233 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 Glutamate (E) at position 233 (D233E, p.Asp233Glu). 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 Similar physico-chemical property. Both residues are medium size and acidic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In LGMDR21; reduced glucosyltransferase and xylosyltransferase activities; impaired Notch signaling. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 233 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 392 The length of the canonical sequence.
Location on the sequence: help RTSPERDPLILLSRKNPKLV D AEYTKNQAWKSMKDTLGKPA 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         RTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPA

Mouse                         RTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPA

Rat                           RTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPA

Bovine                        RTSPERDPLILLSRKNPKLVDAEYTKNQAWKSMKDTLGKPA
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 24 – 392 Protein O-glucosyltransferase 1
Binding site 218 – 218
Site 240 – 240 Interaction with the consensus sequence C-X-S-X-[PA]-C in peptide substrates
Disulfide bond 54 – 357
Beta strand 232 – 237



Literature citations
A POGLUT1 mutation causes a muscular dystrophy with reduced Notch signaling and satellite cell loss.
Servian-Morilla E.; Takeuchi H.; Lee T.V.; Clarimon J.; Mavillard F.; Area-Gomez E.; Rivas E.; Nieto-Gonzalez J.L.; Rivero M.C.; Cabrera-Serrano M.; Gomez-Sanchez L.; Martinez-Lopez J.A.; Estrada B.; Marquez C.; Morgado Y.; Suarez-Calvet X.; Pita G.; Bigot A.; Gallardo E.; Fernandez-Chacon R.; Hirano M.; Haltiwanger R.S.; Jafar-Nejad H.; Paradas C.;
EMBO Mol. Med. 8:1289-1309(2016)
Cited for: FUNCTION; SUBCELLULAR LOCATION; INVOLVEMENT IN LGMDR21; VARIANT LGMDR21 GLU-233; CHARACTERIZATION OF VARIANT LGMDR21 GLU-233;
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.