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UniProtKB/Swiss-Prot Q99972: Variant p.Asp380Gly

Myocilin
Gene: MYOC
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Variant information Variant position: help 380 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 Aspartate (D) to Glycine (G) at position 380 (D380G, p.Asp380Gly). 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 acidic (D) to glycine (G) 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 GLC1A. Any additional useful information about the variant.


Sequence information Variant position: help 380 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 IPGAGYHGQFPYSWGGYTDI D LAVDEAGLWVIYSTDEAKGA 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                         IPGAGYHGQFPYSW------GGYTDIDLAVDE---------------AGLWVIYSTDEAK---------------------------GA

Mouse                         IPGAGYHGHFPYAW------GGYTDIDLAVDE---------

Rat                           IPGAGYHGQFPYAW------GGYTDIDLAVDE---------

Bovine                        IPGAGYHGQFPYSW------GGYTDIDLAVDE---------

Rabbit                        IPGAGYRGQFPYSW------GGYTDIDLAVDE---------

Cat                           IPGAGYHGQFPYSW------GGYTDIDLAVDE---------

Slime mold                    QKGTTLAVNFGQSIQYFKKKGSNNTVTFLKDEMHKEIFLKK
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 380 – 380
Disulfide bond 245 – 433
Beta strand 380 – 384



Literature citations
Myocilin mutations causing glaucoma inhibit the intracellular endoproteolytic cleavage of myocilin between amino acids Arg226 and Ile227.
Aroca-Aguilar J.D.; Sanchez-Sanchez F.; Ghosh S.; Coca-Prados M.; Escribano J.;
J. Biol. Chem. 280:21043-21051(2005)
Cited for: PROTEIN SEQUENCE OF 227-233; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANTS GLC1A LYS-323; LEU-370 AND GLY-380; PROTEOLYTIC PROCESSING;
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.