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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96CV9: Variant p.His486Arg

Optineurin
Gene: OPTN
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Variant information Variant position: help 486 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 Arginine (R) at position 486 (H486R, p.His486Arg). 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 large size and basic (R) 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
Variant description: help In GLC1E; juvenile onset. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 486 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 AQMEVYCSDFHAERAAREKI H EEKEQLALQLAVLLKENDAF 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                         AQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAF

Rhesus macaque                AQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKENDAF

Mouse                         AQMEVYCSDFHAERAAREKIHEEKEQLALQLAILLKENNDI

Rat                           AQMEVYCSDFHAERAAREKIHEEKEQLALQLAILLKENNDF

Pig                           AQMEVYCSDFHAERAAREKIHEEKEQLALQLAVLLKDDNAF

Chicken                       AQMEVYCSDFHAERAAREKIHEEKEQLAVQLAYLLKEQQNL

Xenopus laevis                AQVDVYCADFHAERSARENIHQEKEQLATRLAYMIQEYEKL

Zebrafish                     AQAEIYSSDFYAERAAREKIHEEKERLATQLEYVKKQNSQL
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 411 – 577 Interaction with HD
Region 412 – 520 Interaction with MYO6
Coiled coil 239 – 508
Mutagenesis 474 – 474 D -> N. No effect on retinal ganglion cell death, drastically decreased interaction with TFRC, loss of localization to recycling endosomes, loss of ubiquitin-binding; when associated with K-50.
Mutagenesis 474 – 474 D -> N. Significant reduction in ubiquitin binding, decreased interaction with TBK1, loss of localization to recycling endosomes, disruption of interaction with TFRC, loss of inhibition of IFNB activation in response to TLR3 or RIG-I signaling, no effect on retinal ganglion cell death.
Helix 447 – 497



Literature citations
Different optineurin mutation pattern in primary open-angle glaucoma.
Leung Y.F.; Fan B.J.; Lam D.S.C.; Lee W.S.; Tam P.O.S.; Chua J.K.H.; Tham C.C.Y.; Lai J.S.M.; Fan D.S.P.; Pang C.P.;
Invest. Ophthalmol. Vis. Sci. 44:3880-3884(2003)
Cited for: VARIANTS GLC1E ASP-103 AND ARG-486; Defining the pathogenicity of optineurin in juvenile open-angle glaucoma.
Willoughby C.E.; Chan L.L.Y.; Herd S.; Billingsley G.; Noordeh N.; Levin A.V.; Buys Y.; Trope G.; Sarfarazi M.; Heon E.;
Invest. Ophthalmol. Vis. Sci. 45:3122-3130(2004)
Cited for: VARIANT GLC1E ARG-486;
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.