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UniProtKB/Swiss-Prot Q99972: Variant p.Tyr473Cys

Myocilin
Gene: MYOC
Variant information

Variant position:  473
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  US
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 Tyrosine (Y) to Cysteine (C) at position 473 (Y473C, p.Tyr473Cys).
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 large size and aromatic (Y) to medium size and polar (C)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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:  No effect on protein stability.
Any additional useful information about the variant.



Sequence information

Variant position:  473
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:   YDTGTGISKTLTIPFKNRYK  Y SSMIDYNPLEKKLFAWDNLN
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                         YDTGTG------------------------------------ISKTLTIPFKNRYK-----YSSMIDYNPLEKKLFAWDNLN

                              YDTGTG-----------------------------------

Mouse                         YDTKTG-----------------------------------

Rat                           YDTNTG-----------------------------------

Bovine                        YDTGTG-----------------------------------

Rabbit                        YDTGTG-----------------------------------

Cat                           YDTGTG-----------------------------------

Slime mold                    LPSPTGAPMMKKPAPTAPGGPAPAGAPTPMMKKPAGQPMMK

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.

TypePositionsDescription
Chain 33 – 504 Myocilin
Chain 227 – 504 Myocilin, C-terminal fragment
Domain 244 – 503 Olfactomedin-like
Metal binding 477 – 477 Calcium; via carbonyl oxygen
Metal binding 478 – 478 Calcium
Beta strand 470 – 473


Literature citations

Structural basis for misfolding in myocilin-associated glaucoma.
Donegan R.K.; Hill S.E.; Freeman D.M.; Nguyen E.; Orwig S.D.; Turnage K.C.; Lieberman R.L.;
Hum. Mol. Genet. 24:2111-2124(2015)
Cited for: X-RAY CRYSTALLOGRAPHY (1.90 ANGSTROMS) OF 228-504 IN COMPLEX WITH CALCIUM; DISULFIDE BONDS; CHARACTERIZATION OF VARIANTS GLC1A LYS-293; ILE-353 AND VAL-445; CHARACTERIZATION OF VARIANTS MET-329; CYS-422; PRO-425 AND CYS-473;

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.