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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20839: Variant p.Asp226Asn

Inosine-5'-monophosphate dehydrogenase 1
Gene: IMPDH1
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Variant information Variant position: help 226 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 Asparagine (N) at position 226 (D226N, p.Asp226Asn). 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 medium size and polar (N) 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 RP10. Any additional useful information about the variant.


Sequence information Variant position: help 226 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 514 The length of the canonical sequence.
Location on the sequence: help KGKLPIVNDCDELVAIIART D LKKNRDYPLASKDSQKQLLC 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                         KGKLPIVNDCDELVAIIARTDLKKNRDYPLASKDSQ-KQLLC

Mouse                         KGKLPIVNDQDELVAIIARTDLKKNRDYPLASKDSH-KQLL

Rat                           KGKLPIVNDQDELVAIIARTDLKKNRDYPLASKDSH-KQLL

Bovine                        KGKLPIVNDRDELVAIIARTDLKKNRDYPLASKDSH-KQLL

Xenopus tropicalis            KGKLPIVNDSDELVAIIARTDLKKNRDYPLASKDCR-KQLL

Zebrafish                     KGKLPIVNDSDELVAIIARTDLKKNRDYPLASKDSR-KQLL

Baker's yeast                 KGRLLVVDEKGNLVSMLSRTDLMKNQKYPLASKSANTKQLL
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 – 514 Inosine-5'-monophosphate dehydrogenase 1
Domain 179 – 237 CBS 2
Helix 224 – 228



Literature citations
Mutations in the inosine monophosphate dehydrogenase 1 gene (IMPDH1) cause the RP10 form of autosomal dominant retinitis pigmentosa.
Bowne S.J.; Sullivan L.S.; Blanton S.H.; Cepko C.L.; Blackshaw S.; Birch D.G.; Hughbanks-Wheaton D.; Heckenlively J.R.; Daiger S.P.;
Hum. Mol. Genet. 11:559-568(2002)
Cited for: VARIANTS RP10 ASN-226 AND ILE-268; Spectrum and frequency of mutations in IMPDH1 associated with autosomal dominant retinitis pigmentosa and Leber congenital amaurosis.
Bowne S.J.; Sullivan L.S.; Mortimer S.E.; Hedstrom L.; Zhu J.; Spellicy C.J.; Gire A.I.; Hughbanks-Wheaton D.; Birch D.G.; Lewis R.A.; Heckenlively J.R.; Daiger S.P.;
Invest. Ophthalmol. Vis. Sci. 47:34-42(2006)
Cited for: VARIANTS RP10 MET-116; ASN-226; ILE-268 AND PRO-372; VARIANTS LCA11 TRP-105 AND LYS-198; VARIANTS THR-285 AND ASP-324; CHARACTERIZATION OF VARIANTS RP10 MET-116 AND PRO-372; CHARACTERIZATION OF VARIANTS LCA11 TRP-105 AND LYS-198; CHARACTERIZATION OF VARIANT ASP-324;
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.