UniProtKB/Swiss-Prot Q76LX8: Variant p.Pro475Ser

A disintegrin and metalloproteinase with thrombospondin motifs 13
Gene: ADAMTS13
Feedback?

Variant information Variant position:

475 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 Proline (P) to Serine (S) at position 475 (P475S, p.Pro475Ser). 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 hydrophobic (P) to small size and polar (S) 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:

Genetic variations in ADAMTS13 coding region influence plasmatic ADAMTS13 activity levels. Dependent on the sequence context, the same polymorphisms might be either positive or negative modifiers of gene expression, thereby altering the phenotype of ADAMTS13 deficiency. Additional information on the polymorphism described.
Other resources:

Links to websites of interest for the variant.

Variant rs11575933 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

1427 The length of the canonical sequence.
Location on the sequence:

GQPLRSSPGGASFYHWGAAV P HSQGDALCRHMCRAIGESFI 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                         GQPLRSSPGGASFYHWGAAVPHSQGDALCRHMCRAIGESFI

Mouse                         RQPLQLSQGTASFYHWDAAVQYSQGDTLCRHMCWAVGESFI

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	75 – 1427	A disintegrin and metalloproteinase with thrombospondin motifs 13
Region	440 – 556	Cysteine-rich
Disulfide bond	450 – 487
Turn	474 – 476

Literature citations
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity.
Kokame K.; Matsumoto M.; Soejima K.; Yagi H.; Ishizashi H.; Funato M.; Tamai H.; Konno M.; Kamide K.; Kawano Y.; Miyata T.; Fujimura Y.;
Proc. Natl. Acad. Sci. U.S.A. 99:11902-11907(2002)
Cited for: VARIANTS TTP PRO-268 AND TYR-508; VARIANTS GLU-448 AND SER-475; CHARACTERIZATION OF VARIANTS TTP PRO-268 AND TYR-508; CHARACTERIZATION OF VARIANTS GLU-448 AND SER-475;

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.