UniProtKB/SwissProt variant VAR

Variant information

Variant position:

126

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 Arginine (R) to Tryptophan (W) at position 126 (R126W, p.Arg126Trp).

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 basic (R) to large size and aromatic (W)

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.

Variant rs200120115 [ dbSNP | Ensembl ]

Sequence information

Variant position:

126

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:

QAARPQETQEGLQRELGTLR R ERDQLETQTRELETAYSNLL

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                         QAARPQETQEGLQR--ELGTLRRERDQLETQTRELETAYSNLL

                              QAAGPSESQEGLHR--ELGTLRKEREQLETQARELEVAYSN

Mouse                         RVTGTQEAQEGLQG--QLGALRRERDQLETQTRDLEAAYNN

Rat                           GVTGTQEVQEGLQG--QLGALRRERDQLETQTRDLEVAYNN

Bovine                        QPAGPLETHQGLQR--ELEALRREREQLETQTQELESAYSN

Rabbit                        QTSGPQEIQEELQK--ELGTLRRERDQLESQTRELEAAYSN

Cat                           EAAGPSATQEGLQR--ELGALRREREQLESQNRELEASYSN

Slime mold                    LEFRQMETRHGNQRGTQYNVPLNKTQAIAGRDALAKAIYDR

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
Region	106 – 131	Disordered
Coiled coil	74 – 184

Literature citations

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99972: Variant p.Arg126Trp