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UniProtKB/Swiss-Prot Q99972: Variant p.Ile499Phe

Gene: MYOC
Variant information

Variant position:  499
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Isoleucine (I) to Phenylalanine (F) at position 499 (I499F, p.Ile499Phe).
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:  Change from medium size and hydrophobic (I) to large size and aromatic (F)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  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:  In GLC1A.
Any additional useful information about the variant.

Sequence information

Variant position:  499
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  504
The length of the canonical sequence.

Location on the sequence:   YNPLEKKLFAWDNLNMVTYD  I KLSKM
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         YNPLEKKLFAWDNLNMVTYDIKL-----------------------SKM


Mouse                         YNPLERKLFAWDNFNMVTYDIKL---

Rat                           YNPLERKLFAWDNFNMVTYDIKL---

Bovine                        YNPLERKLFAWDNFNMVSYDIKL---

Rabbit                        YNPLERKLFAWDSFNMVTYDIKL---

Cat                           YNPLEKKLFAWDNFNMVTYDLRL---

Slime mold                    YDAMQPDELTFKENDVINLIKKVDAD

Sequence annotation in neighborhood:  
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.

Chain 33 – 504 Myocilin
Chain 227 – 504 Myocilin, C-terminal fragment
Domain 244 – 503 Olfactomedin-like
Beta strand 494 – 501

Literature citations

Recurrent mutations in a single exon encoding the evolutionarily conserved olfactomedin-homology domain of TIGR in familial open-angle glaucoma.
Adam M.F.; Belmouden A.; Binisti P.; Brezin A.P.; Valtot F.; Bechetoille A.; Dascotte J.-C.; Copin B.; Gomez L.; Chaventre A.; Bach J.-F.; Garchon H.-J.;
Hum. Mol. Genet. 6:2091-2097(1997)

Myocilin analysis by DHPLC in French POAG patients: increased prevalence of Q368X mutation.
Melki R.; Belmouden A.; Brezin A.; Garchon H.-J.;
Hum. Mutat. 22:179-179(2003)
Cited for: VARIANTS GLC1A ARG-367; ILE-438; LYS-480 AND PHE-499; VARIANTS SER-57; LYS-76 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.