UniProtKB/Swiss-Prot Q08397: Variant p.Gly153Asp

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

153 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 Glycine (G) to Aspartate (D) at position 153 (G153D, p.Gly153Asp). 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 glycine (G) to medium size and acidic (D) 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:

Risk factor for XFS; associated in cis with L-141. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs3825942 [ dbSNP | Ensembl ]

Sequence information Variant position:

153 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:

VGDSTGMARARTSVSQQRHG G SASSVSASAFASTYRQQPSY 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                         VGDSTGMARARTSVSQQRHGGSAS--SVSASAFASTYRQQPSY

Mouse                         VGDSTGMARARTSVSQQRHGGSASS-SVSASAFATTYRQPS

Bovine                        VGDSTGMARARTSVSQQRHGGSASSVSASASAFASTYRQPS

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
Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASP-153; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA]; VARIANT ASP-153; 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; 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.