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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8NI36: Variant p.Ala449Thr

WD repeat-containing protein 36
Gene: WDR36
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Variant information Variant position: help 449 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 449 (A449T, p.Ala449Thr). 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 449 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 951 The length of the canonical sequence.
Location on the sequence: help KRKGLQNTMSVRLPPITKFA A EEARESDWDGIIACHQGKLS 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 1 – 951 WD repeat-containing protein 36
Repeat 445 – 484 WD 9
Modified residue 438 – 438 Phosphoserine
Modified residue 455 – 455 Phosphoserine



Literature citations
Identification of a novel adult-onset primary open-angle glaucoma (POAG) gene on 5q22.1.
Monemi S.; Spaeth G.; DaSilva A.; Popinchalk S.; Ilitchev E.; Liebmann J.; Ritch R.; Heon E.; Crick R.P.; Child A.; Sarfarazi M.;
Hum. Mol. Genet. 14:725-733(2005)
Cited for: INVOLVEMENT IN GLC1G; VARIANTS GLC1G PRO-216; SER-355 AND GLN-529; VARIANTS PRO-25; VAL-163; VAL-264; THR-449; GLY-658 AND VAL-671; TISSUE SPECIFICITY; Profiling of WDR36 missense variants in German patients with glaucoma.
Pasutto F.; Mardin C.Y.; Michels-Rautenstrauss K.; Weber B.H.; Sticht H.; Chavarria-Soley G.; Rautenstrauss B.; Kruse F.; Reis A.;
Invest. Ophthalmol. Vis. Sci. 49:270-274(2008)
Cited for: VARIANTS PRO-25; THR-31; GLU-33; VAL-163; PRO-212; VAL-264; THR-449 AND GLY-658; VARIANTS GLC1G CYS-97; ALA-403; LEU-411; TYR-411 AND ARG-487;
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.