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UniProtKB/Swiss-Prot Q9Y5P4: Variant p.Ser138Cys

Collagen type IV alpha-3-binding protein
Gene: COL4A3BP
Chromosomal location: 5q13.1
Variant information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Unclassified
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 Serine (S) to Cysteine (C) at position 138 (S138C, p.Ser138Cys).
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 small size and polar (S) to medium size and polar (C)
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:  Found in a patient with mental retardation.
Any additional useful information about the variant.



Sequence information

Variant position:  138
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  624
The length of the canonical sequence.

Location on the sequence:   ESGYGSESSLRRHGSMVSLV  S GASGYSATSTSSFKKGHSLR
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                         ESGYGSESSLRRHGSMVSLVSGASGYSATSTSSFKKGHSLR

Mouse                         ESGYGSESSLRRHGSMVSLVSGASGYSATSTSSFKKGHSLR

Bovine                        ESGYGSESSLRRHGSMVSLVSGASGYSATSTSSFKKGHSLR

Xenopus laevis                ESGYGSESSLRRHGSMVSLVSGASSYSATSTSSFKKGHSLR

Xenopus tropicalis            ESGYGSESSLRRHGSMVSLVSGASGYSATSTSSFKKGHSLR

Zebrafish                     ESGYGSESSLRRHGSLLSLTSAASGLSTASASSFKKAYSLQ

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 1 – 624 Collagen type IV alpha-3-binding protein
Modified residue 126 – 126 Phosphoserine
Modified residue 132 – 132 Phosphoserine; by PKD
Modified residue 135 – 135 Phosphoserine
Mutagenesis 132 – 132 S -> A. Abolishes the phosphorylation. Strongly reduces the interaction with phosphatidylinositol 4-phosphate. Increases the ceramide transfer activity.


Literature citations

Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT CYS-138;

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.