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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96CV9: Variant p.His26Asp

Optineurin
Gene: OPTN
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Variant information Variant position: help 26 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 Histidine (H) to Aspartate (D) at position 26 (H26D, p.His26Asp). 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 polar (H) to medium size and acidic (D) 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 GLC1E. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 26 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 577 The length of the canonical sequence.
Location on the sequence: help LSCLTEKEDSPSESTGNGPP H LAHPNLDTFTPEELLQQMKE 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                         LSCLTEKEDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKE

Rhesus macaque                LSCLTEKGDSPSESTGNGPPHLAHPNLDTFTPEELLQQMKE

Mouse                         LSCLTEKGDSPCETPGNGPSNMVHPSLDTFTPEELLQQMKE

Rat                           LSCLTEKGDSSCETPGNGPSNMVHPNLDTFTPEELLQQMKE

Pig                           LSCLTEKGDSPTETTGNGPPTLAHPNLDTFTPHELLQQMRE

Chicken                       QIRPAENGEHCRSKMENGMDSMAPPTLSTYTPEEMVQQMKE

Xenopus laevis                LNHPHNN------NMVNGHQDAPYDALSMKNDAEMLEQIKQ

Zebrafish                     ISHPR----------GSGPGNLG-------SLEETLQQMNT
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 – 577 Optineurin
Region 1 – 32 Disordered
Alternative sequence 1 – 57 Missing. In isoform 3.



Literature citations
Variants in optineurin gene and their association with tumor necrosis factor-alpha polymorphisms in Japanese patients with glaucoma.
Funayama T.; Ishikawa K.; Ohtake Y.; Tanino T.; Kurosaka D.; Kimura I.; Suzuki K.; Ideta H.; Nakamoto K.; Yasuda N.; Fujimaki T.; Murakami A.; Asaoka R.; Hotta Y.; Tanihara H.; Kanamoto T.; Mishima H.; Fukuchi T.; Abe H.; Iwata T.; Shimada N.; Kudoh J.; Shimizu N.; Mashima Y.;
Invest. Ophthalmol. Vis. Sci. 45:4359-4367(2004)
Cited for: VARIANTS GLC1E ASP-26 AND GLN-545; VARIANT LYS-98; Molecular genetic analysis of optineurin gene for primary open-angle and normal tension glaucoma in the Japanese population.
Fuse N.; Takahashi K.; Akiyama H.; Nakazawa T.; Seimiya M.; Kuwahara S.; Tamai M.;
J. Glaucoma 13:299-303(2004)
Cited for: VARIANT GLC1E ASP-26; Clinical relevance of optineurin sequence alterations in Japanese glaucoma patients.
Umeda T.; Matsuo T.; Nagayama M.; Tamura N.; Tanabe Y.; Ohtsuki H.;
Ophthalmic Genet. 25:91-99(2004)
Cited for: VARIANT NPG ASP-26;
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.