UniProtKB/Swiss-Prot Q08397: Variant p.Arg141Leu

Lysyl oxidase homolog 1
Gene: LOXL1
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Variant information Variant position:

141 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 Leucine (L) at position 141 (R141L, p.Arg141Leu). 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 medium size and hydrophobic (L) 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
Variant description:

Risk factor for XFS; associated in cis with D-153. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1048661 [ dbSNP | Ensembl ]

Sequence information Variant position:

141 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

574 The length of the canonical sequence.
Location on the sequence:

FGQVPDNWREVAVGDSTGMA R ARTSVSQQRHGGSASSVSAS 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                         FGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSAS--SVSAS

Mouse                         FGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASS-SVS

Bovine                        FGQVPDNWREVAVGDSTGMARARTSVSQQRHGGSASSVSAS

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	96 – 574	Lysyl oxidase homolog 1

Literature citations
A novel human cDNA with a predicted protein similar to lysyl oxidase maps to chromosome 15q24-q25.
Kenyon K.; Modi W.S.; Contente S.; Friedman R.M.;
J. Biol. Chem. 268:18435-18437(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; VARIANT LEU-141; Structure of the human lysyl oxidase-like gene.
Kenyon K.; Sathya G.; Contente S.; Friedman R.M.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT LEU-141; Common sequence variants in the LOXL1 gene confer susceptibility to exfoliation glaucoma.
Thorleifsson G.; Magnusson K.P.; Sulem P.; Walters G.B.; Gudbjartsson D.F.; Stefansson H.; Jonsson T.; Jonasdottir A.; Jonasdottir A.; Stefansdottir G.; Masson G.; Hardarson G.A.; Petursson H.; Arnarsson A.; Motallebipour M.; Wallerman O.; Wadelius C.; Gulcher J.R.; Thorsteinsdottir U.; Kong A.; Jonasson F.; Stefansson K.;
Science 317:1397-1400(2007)
Cited for: VARIANTS LEU-141 AND ASP-153; INVOLVEMENT IN XFS; Ancestral LOXL1 variants are associated with pseudoexfoliation in Caucasian Australians but with markedly lower penetrance than in Nordic people.
Hewitt A.W.; Sharma S.; Burdon K.P.; Wang J.J.; Baird P.N.; Dimasi D.P.; Mackey D.A.; Mitchell P.; Craig J.E.;
Hum. Mol. Genet. 17:710-716(2008)
Cited for: VARIANTS LEU-141 AND ASP-153; INVOLVEMENT IN XFS; TISSUE SPECIFICITY; A quantitative atlas of mitotic phosphorylation.
Dephoure N.; Zhou C.; Villen J.; Beausoleil S.A.; Bakalarski C.E.; Elledge S.J.; Gygi S.P.;
Proc. Natl. Acad. Sci. U.S.A. 105:10762-10767(2008)
Cited for: VARIANT [LARGE SCALE ANALYSIS] LEU-141; IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS]; Association of LOXL1 gene with Finnish exfoliation syndrome patients.
Lemmela S.; Forsman E.; Onkamo P.; Nurmi H.; Laivuori H.; Kivela T.; Puska P.; Heger M.; Eriksson A.; Forsius H.; Jarvela I.;
J. Hum. Genet. 54:289-297(2009)
Cited for: VARIANTS LEU-141 AND ASP-153; INVOLVEMENT IN XFS;

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.