UniProtKB/Swiss-Prot P39060: Variant p.Asp1675Asn

Collagen alpha-1(XVIII) chain
Gene: COL18A1
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Variant information Variant position:

1675 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 Aspartate (D) to Asparagine (N) at position 1675 (D1675N, p.Asp1675Asn). 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 acidic (D) to medium size and polar (N) 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
Polymorphism:

There is an association between a polymorphism in position 1675 and prostate cancer. Heterozygous Asn-1675 individuals have a 2.5 times increased chance of developing prostate cancer as compared with homozygous Asp-1675 individuals. Additional information on the polymorphism described.
Variant description:

Probable risk factor for prostate cancer; results in decreased affinity for laminin. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs12483377 [ dbSNP | Ensembl ]

Sequence information Variant position:

1675 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1754 The length of the canonical sequence.
Location on the sequence:

EALFSGSEGPLKPGARIFSF D GKDVLRHPTWPQKSVWHGSD 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                         EALFSGSEGPLKPGARIFSFDGKDVLRHPTWPQKSVWHGSD

Mouse                         DSLFSGSQGQLQPGARIFSFDGRDVLRHPAWPQKSVWHGSD

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	24 – 1754	Collagen alpha-1(XVIII) chain
Chain	1572 – 1754	Endostatin
Region	1443 – 1754	Nonhelical region 11 (NC11)
Disulfide bond	1604 – 1744

Literature citations
Characterization of the human type XVIII collagen gene and proteolytic processing and tissue location of the variant containing a frizzled motif.
Elamaa H.; Snellman A.; Rehn M.; Autio-Harmainen H.; Pihlajaniemi T.;
Matrix Biol. 22:427-442(2003)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORMS 1; 2 AND 3); VARIANTS ILE-1076 AND ASN-1675; Cloning and expression of human endostatin gene in Escherichia coli.
Zhi-Yong H.; Biao L.; Wei-Jie Z.; Xiang-Fu W.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1572-1754; VARIANT ASN-1675; A polymorphism in endostatin, an angiogenesis inhibitor, predisposes for the development of prostatic adenocarcinoma.
Iughetti P.; Suzuki O.; Godoi P.H.; Alves V.A.; Sertie A.L.; Zorick T.; Soares F.; Camargo A.A.; Moreira E.S.; di Loreto C.; Moreira-Filho C.A.; Simpson A.; Oliva G.; Passos-Bueno M.R.;
Cancer Res. 61:7375-7378(2001)
Cited for: VARIANTS ILE-1076 AND ASN-1675; Knobloch syndrome: novel mutations in COL18A1, evidence for genetic heterogeneity, and a functionally impaired polymorphism in endostatin.
Menzel O.; Bekkeheien R.C.J.; Reymond A.; Fukai N.; Boye E.; Kosztolanyi G.; Aftimos S.; Deutsch S.; Scott H.S.; Olsen B.R.; Antonarakis S.E.; Guipponi M.;
Hum. Mutat. 23:77-84(2004)
Cited for: VARIANTS LEU-49; ARG-111; ILE-1076 AND ARG-1121; CHARACTERIZATION OF VARIANT ASN-1675;

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.