UniProtKB/Swiss-Prot Q99972: Variant p.Arg76Lys

Myocilin
Gene: MYOC
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Variant information Variant position:

76 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) to Lysine (K) at position 76 (R76K, p.Arg76Lys). 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:

Similar physico-chemical property. Both residues are large size and basic. 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
Other resources:

Links to websites of interest for the variant.

Variant rs2234926 [ dbSNP | Ensembl ]

Sequence information Variant position:

76 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:

PNESSCPEQSQAMSVIHNLQ R DSSTQRLDLEATKARLSSLE 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                         PNESSCPEQSQAMSVI--------------HNLQRDSST-----------QRLDLEATKARLSSLE

                              PNESSCPEQGQAMSAI--------------QDLQRD-----

Mouse                         PNESSCPREDQAMSAI--------------QDLQRDSSI--

Rat                           PSESSCPREDQAMSAI--------------QDLQRDSSI--

Bovine                        PSESSCPEQGQAMLAI--------------QELQRDSSE--

Rabbit                        PSESSCPEQGQTMSAI--------------QDLQRDSST--

Cat                           PNESSCPEQGQAMSAI--------------QDLQRDSSA--

Slime mold                    ERGSSSNQKVEHVKSIILETNPLLEAFGNAKTLRNNNSSRF

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.

Type	Positions	Description
Chain	33 – 504	Myocilin
Chain	33 – 226	Myocilin, N-terminal fragment
Coiled coil	74 – 184
Glycosylation	57 – 57	N-linked (GlcNAc...) asparagine

Literature citations
Novel TIGR/MYOC mutations in families with juvenile onset primary open angle glaucoma.
Stoilova D.; Child A.; Brice G.; Desai T.; Barsoum-Homsy M.; Ozdemir N.; Chevrette L.; Adam M.F.; Garchon H.-J.; Pitts Crick R.; Sarfarazi M.;
J. Med. Genet. 35:989-992(1998)
Cited for: VARIANTS GLC1A LEU-370; ALA-380 AND PRO-502; VARIANT LYS-76; 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; Novel mutations in the myocilin gene in Japanese glaucoma patients.
Kubota R.; Mashima Y.; Ohtake Y.; Tanino T.; Kimura T.; Hotta Y.; Kanai A.; Tokuoka S.; Azuma I.; Tanihara H.; Inatani M.; Inoue Y.; Kudoh J.; Oguchi Y.; Shimizu N.;
Hum. Mutat. 16:270-270(2000)
Cited for: VARIANTS GLC1A GLN-158; ASN-360 AND THR-363; VARIANTS HIS-19; LYS-76; GLU-208 AND HIS-470; Truncations in the TIGR gene in individuals with and without primary open-angle glaucoma.
Lam D.S.C.; Leung Y.F.; Chua J.K.H.; Baum L.; Fan D.S.P.; Choy K.W.; Pang C.P.;
Invest. Ophthalmol. Vis. Sci. 41:1386-1391(2000)
Cited for: VARIANTS GLC1A GLU-208 AND ILE-353; VARIANTS ARG-12 AND LYS-76; Founder TIGR/myocilin mutations for glaucoma in the Quebec population.
Faucher M.; Anctil J.-L.; Rodrigue M.-A.; Duchesne A.; Bergeron D.; Blondeau P.; Cote G.; Dubois S.; Bergeron J.; Arseneault R.; Morissette J.; Raymond V.;
Hum. Mol. Genet. 11:2077-2090(2002)
Cited for: VARIANTS GLC1A TRP-126; LYS-293; LYS-352; ARG-367; GLU-423; THR-427; VAL-445 AND LEU-481; VARIANTS LYS-76; GLU-77 AND ARG-398; Novel mutations in the MYOC/GLC1A gene in a large group of glaucoma patients.
Michels-Rautenstrauss K.; Mardin C.; Wakili N.; Juenemann A.M.; Villalobos L.; Mejia C.; Soley G.C.; Azofeifa J.; Oezbey S.; Naumann G.O.H.; Reis A.; Rautenstrauss B.;
Hum. Mutat. 20:479-480(2002)
Cited for: VARIANTS GLC1A ALA-251; MET-345; ARG-367; LEU-370; ASN-393; SER-434; ASP-450 AND CYS-470; VARIANT LYS-76; TIGR/MYOC gene sequence alterations in individuals with and without primary open-angle glaucoma.
Pang C.P.; Leung Y.F.; Fan B.; Baum L.; Tong W.C.; Lee W.S.; Chua J.K.H.; Fan D.S.P.; Liu Y.; Lam D.S.C.;
Invest. Ophthalmol. Vis. Sci. 43:3231-3235(2002)
Cited for: VARIANTS GLC1A LYS-300 AND CYS-471; VARIANTS ARG-12; LEU-16; SER-17; LYS-76; PRO-95; GLU-208; PRO-215; ILE-353 AND LYS-414; 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; Low frequency of myocilin mutations in Indian primary open-angle glaucoma patients.
Sripriya S.; Uthra S.; Sangeetha R.; George R.J.; Hemamalini A.; Paul P.G.; Amali J.; Vijaya L.; Kumaramanickavel G.;
Clin. Genet. 65:333-337(2004)
Cited for: VARIANT GLC1A HIS-48; VARIANT LYS-76;

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