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UniProtKB/Swiss-Prot Q99972: Variant p.Cys25Arg

Gene: MYOC
Variant information

Variant position:  25
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 Cysteine (C) to Arginine (R) at position 25 (C25R, p.Cys25Arg).
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 polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

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

Other resources:  
Links to websites of interest for the variant.

Sequence information

Variant position:  25
The position of the amino-acid change on the UniProtKB canonical protein sequence.

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

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                         CARCCSFGPEMPAVQLLLLA-------------------------------------------------------------------------------CLVW----DVGARTA------------------------------------------------------------QLRKANDQSG-----------


Mouse                         ----------MPALHLLFLA---------------------

Rat                           CAYCCSCGPKMPALQLLFLA---------------------

Bovine                        ----------MPAVQLLLLA---------------------

Rabbit                        ----------MPAVQLLLLA---------------------

Cat                           ----------MPATQLLLLA---------------------


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.

Signal peptide 1 – 32

Literature citations

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;

Genetic screening in a large family with juvenile onset primary open angle glaucoma.
Booth A.P.; Anwar R.; Chen H.; Churchill A.J.; Jay J.; Polansky J.; Nguyen T.; Markham A.F.;
Br. J. Ophthalmol. 84:722-726(2000)
Cited for: VARIANT GLC1A ARG-252;

Digenic inheritance of early-onset glaucoma: CYP1B1, a potential modifier gene.
Vincent A.L.; Billingsley G.; Buys Y.; Levin A.V.; Priston M.; Trope G.; Williams-Lyn D.; Heon E.;
Am. J. Hum. Genet. 70:448-460(2002)
Cited for: VARIANTS GLC1A ARG-252; LYS-293; ARG-367; LEU-370; LYS-377; VAL-399 AND VAL-445; VARIANT ARG-398;

Mutations in the myocilin gene in families with primary open-angle glaucoma and juvenile open-angle glaucoma.
Bruttini M.; Longo I.; Frezzotti P.; Ciappetta R.; Randazzo A.; Orzalesi N.; Fumagalli E.; Caporossi A.; Frezzotti R.; Renieri A.;
Arch. Ophthalmol. 121:1034-1038(2003)
Cited for: VARIANTS GLC1A ARG-25 AND GLU-423;

Myocilin Gly252Arg mutation and glaucoma of intermediate severity in Caucasian individuals.
Hewitt A.W.; Bennett S.L.; Richards J.E.; Dimasi D.P.; Booth A.P.; Inglehearn C.; Anwar R.; Yamamoto T.; Fingert J.H.; Heon E.; Craig J.E.; Mackey D.A.;
Arch. Ophthalmol. 125:98-104(2007)
Cited for: VARIANTS GLC1A VAL-244 AND ARG-252;

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.