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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P20839: Variant p.Ala285Thr

Inosine-5'-monophosphate dehydrogenase 1
Gene: IMPDH1
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Variant information Variant position: help 285 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Alanine (A) to Threonine (T) at position 285 (A285T, p.Ala285Thr). 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 small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help 285 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 QAGVDVIVLDSSQGNSVYQI A MVHYIKQKYPHLQVIGGNVV 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                         QAGVDVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVV

Mouse                         QAGADVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVV

Rat                           QAGADVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVV

Bovine                        QAGADVIVLDSSQGNSVYQIAMVHYIKQKYPHLQVIGGNVV

Xenopus tropicalis            QAGVDVVVLDSSQGNSVYQINMIHYIKQKYPELQVVGGNVV

Zebrafish                     QAGVDVIVLDSSQGNSVFQISMINYIKQKYPELQVVGGNVV

Baker's yeast                 KAGLDVVILDSSQGNSIFQLNMIKWIKETFPDLEIIAGNVV

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
Helix 281 – 293



Literature citations
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.