UniProtKB/Swiss-Prot variant pages

Home | Contact

UniProtKB/Swiss-Prot Q99972: Variant p.Thr353Ile

Myocilin
Gene: MYOC
Feedback?

Variant information Variant position:

353 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 Threonine (T) to Isoleucine (I) at position 353 (T353I, p.Thr353Ile). 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 (T) to medium size and hydrophobic (I) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-1 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; unknown pathological significance; no significant effect on protein stability. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs137853277 [ dbSNP | Ensembl ]

Sequence information Variant position:

353 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:

SLYFQGAESRTVIRYELNTE T VKAEKEIPGAGYHGQFPYSW 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                         SLYFQGAESR---------------------------------------TVIRYELNTETVKAEKEIPGAGYHGQFPYSW------

Mouse                         SLYFQGAESR-------------------------------

Rat                           SLYFQGAESR-------------------------------

Bovine                        SLYFQAAESR-------------------------------

Rabbit                        SLYFQGAGSR-------------------------------

Cat                           SLYFQGAESR-------------------------------

Slime mold                    AIYLIKLKQKKNLATYLLDRRVPLAEVTSFSLSSLADNLLV

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	227 – 504	Myocilin, C-terminal fragment
Domain	244 – 503	Olfactomedin-like
Disulfide bond	245 – 433
Beta strand	353 – 359

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; Mutations of the TIGR/MYOC gene in primary open-angle glaucoma in Korea.
Yoon S.-J.K.; Kim H.-S.; Moon J.-I.; Lim J.M.; Joo C.-K.;
Am. J. Hum. Genet. 64:1775-1778(1999)
Cited for: VARIANT GLC1A ILE-353; 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; 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;

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.