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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Gly246Arg

Myocilin
Gene: MYOC
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Variant information Variant position: help 246 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 Glycine (G) to Arginine (R) at position 246 (G246R, p.Gly246Arg). 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 glycine (G) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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: help In GLC1A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 246 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 RILKESPSGYLRSGEGDTGC G ELVWVGEPLTLRTAETITGK 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                         RILKESPSGYLRSGEG----------------------------------------DTGC--GELVWVGEPLT----------LRTAETITGK

                              RILKESPSGHPRNEEG-------------------------

Mouse                         QILKENPSGRPRSKEG-------------------------

Rat                           QILK-NQSGHPRSKEG-------------------------

Bovine                        QILKESPSGHPRNEEG-------------------------

Rabbit                        RILKENPPVLPRGEEG-------------------------

Cat                           RILKESPSGHPRSEEG-------------------------

Slime mold                    RTIKPNDLKKPNILEGGRVLHQVKYLGLLDNIKVRRAGFAY
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
Disulfide bond 245 – 433
Mutagenesis 226 – 226 R -> A. Reduced processing. Impairs endoproteolytic processing; when associated with A-229 or A-230. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-229 or A-230.
Mutagenesis 226 – 226 R -> Q. Slightly increases endoproteolytic processing.
Mutagenesis 227 – 227 I -> G. Reduced processing.
Mutagenesis 229 – 229 K -> A. Completely blocks endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and releases a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226.
Mutagenesis 230 – 230 E -> A. Impairs endoproteolytic processing; when associated with A-226. Completely processed after 6 days of expression, and released a C-terminal fragment with similar electrophoretic mobility to that obtained by processing wild-type myocilin; when associated with A-226.



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)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS GLC1A ARG-246; LEU-370; SER-477; LYS-480 AND PHE-499;
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.