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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Ile477Asn

Myocilin
Gene: MYOC
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Variant information Variant position: help 477 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 Isoleucine (I) to Asparagine (N) at position 477 (I477N, p.Ile477Asn). 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 hydrophobic (I) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 GLC1A; induces stress fiber formation in only 5% of cells. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 477 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 504 The length of the canonical sequence.
Location on the sequence: help TGISKTLTIPFKNRYKYSSM I DYNPLEKKLFAWDNLNMVTY 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                         TG------------------------------------ISKTLTIPFKNRY-----KYSSMIDYNPLEKKLFAWDNLNMVTY

                              TG------------------------------------RSR

Mouse                         TG------------------------------------TSK

Rat                           TG------------------------------------ISK

Bovine                        TG------------------------------------SSK

Rabbit                        TG------------------------------------ISK

Cat                           TG------------------------------------RSR

Slime mold                    TGAPMMKKPAPTAPGGPAPAGAPTPMMKKPAGQPMMKPIAK
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 33 – 504 Myocilin
Chain 227 – 504 Myocilin, C-terminal fragment
Domain 244 – 503 Olfactomedin-like
Binding site 477 – 477
Binding site 478 – 478
Beta strand 474 – 480



Literature citations
Myocilin is a modulator of Wnt signaling.
Kwon H.S.; Lee H.S.; Ji Y.; Rubin J.S.; Tomarev S.I.;
Mol. Cell. Biol. 29:2139-2154(2009)
Cited for: FUNCTION IN STRESS FIBER ASSEMBLY; INTERACTION WITH FRZB; FZD7; FZD10; FZD1 AND WIF1; CHARACTERIZATION OF VARIANT ASN-477; Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.
Shimizu S.; Lichter P.R.; Johnson A.T.; Zhou Z.; Higashi M.; Gottfredsdottir M.; Othman M.; Moroi S.E.; Rozsa F.W.; Schertzer R.M.; Clarke M.S.; Schwartz A.L.; Downs C.A.; Vollrath D.; Richards J.E.;
Am. J. Ophthalmol. 130:165-177(2000)
Cited for: VARIANTS GLC1A ARG-252; GLY-272; LYS-323; LEU-370; MET-377; PHE-426; ASN-477 AND SER-499; VARIANTS ASP-57; LYS-76; MET-329 AND ARG-398; CHARACTERIZATION OF VARIANTS GLC1A ARG-252; GLY-272; LYS-323; LEU-370; MET-377; PHE-426; ASN-477 AND SER-499; CHARACTERIZATION OF VARIANTS ASP-57; LYS-76; MET-329 AND ARG-398;
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.