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UniProtKB/Swiss-Prot Q76LX8: Variant p.Cys1024Gly

A disintegrin and metalloproteinase with thrombospondin motifs 13
Gene: ADAMTS13
Chromosomal location: 9q34
Variant information

Variant position:  1024
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Cysteine (C) to Glycine (G) at position 1024 (C1024G, p.Cys1024Gly).
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 polar (C) to glycine (G)
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

Involvement in disease:  Thrombotic thrombocytopenic purpura congenital (TTP) [MIM:274150]: A hematologic disease characterized by hemolytic anemia with fragmentation of erythrocytes, thrombocytopenia, diffuse and non-focal neurologic findings, decreased renal function and fever. Recessive. {ECO:0000269|PubMed:11586351, ECO:0000269|PubMed:12181489, ECO:0000269|PubMed:12393505, ECO:0000269|PubMed:12614216, ECO:0000269|PubMed:12753286, ECO:0000269|PubMed:14512317, ECO:0000269|PubMed:14563640, ECO:0000269|PubMed:15009458, ECO:0000269|PubMed:15126318, ECO:0000269|PubMed:15327386, ECO:0000269|PubMed:16160007, ECO:0000269|PubMed:16449289, ECO:0000269|PubMed:16453338, ECO:0000269|PubMed:16796708, ECO:0000269|PubMed:16807643, ECO:0000269|PubMed:17003922, ECO:0000269|PubMed:18443791, ECO:0000269|PubMed:19055667, ECO:0000269|PubMed:19116307, ECO:0000269|PubMed:22075512}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In TTP.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1024
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:   QEACSLEPCPPRWKVMSLGP  C SASCGLGTARRSVACVQLDQ
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                         QEACSLEPCPPRWKVMSLGPCSASCGLGTARRSVACVQLDQ

Mouse                         FEDCSPEPCPARWKVLSLGPCSASCGLGTATQMVACMQLDQ

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.

TypePositionsDescription
Chain 75 – 1427 A disintegrin and metalloproteinase with thrombospondin motifs 13
Domain 1012 – 1068 TSP type-1 7
Glycosylation 1027 – 1027 O-linked (Fuc...) serine
Alternative sequence 693 – 1427 Missing. In isoform 4.
Mutagenesis 1027 – 1027 S -> A. No effect on cleavage of VWF and little change in secretion of ADAMTS13. Abolishes most of the secretion of ADAMTS13; when associated with A-1087.


Literature citations

Mutations in a member of the ADAMTS gene family cause thrombotic thrombocytopenic purpura.
Levy G.G.; Nichols W.C.; Lian E.C.; Foroud T.; McClintick J.N.; McGee B.M.; Yang A.Y.; Siemieniak D.R.; Stark K.R.; Gruppo R.; Sarode R.; Shurin S.B.; Chandrasekaran V.; Stabler S.P.; Sabio H.; Bouhassira E.E.; Upshaw J.D. Jr.; Ginsburg D.; Tsai H.-M.;
Nature 413:488-494(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); INVOLVEMENT IN THROMBOTIC THROMBOCYTOPENIC PURPURA; VARIANTS TTP ASP-96; CYS-102; ILE-196; HIS-398; GLY-528; CYS-692; GLY-951; GLY-1024 AND TYR-1213; VARIANTS TRP-7; GLU-448; ALA-618; HIS-625; VAL-732; VAL-900 AND THR-1033;

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.