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UniProtKB/Swiss-Prot P28907: Variant p.Arg140Trp

ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1
Gene: CD38
Variant information

Variant position:  140
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
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 Arginine (R) to Tryptophan (W) at position 140 (R140W, p.Arg140Trp).
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 large size and basic (R) to large size and aromatic (W)
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

Variant description:  Seems to contribute to the development of type II diabetes; 50% reduction in activity.
Any additional useful information about the variant.

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

Sequence information

Variant position:  140
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  300
The length of the canonical sequence.

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.





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.

Chain 1 – 300 ADP-ribosyl cyclase/cyclic ADP-ribose hydrolase 1
Topological domain 43 – 300 Extracellular
Disulfide bond 99 – 180
Alternative sequence 122 – 122 I -> K. In isoform 2.
Alternative sequence 123 – 300 Missing. In isoform 2.
Mutagenesis 160 – 160 C -> A. Loss of cADPr hydrolase and ADP-ribosyl cyclase activity.
Helix 136 – 141

Literature citations

A missense mutation in the CD38 gene, a novel factor for insulin secretion: association with Type II diabetes mellitus in Japanese subjects and evidence of abnormal function when expressed in vitro.
Yagui K.; Shimada F.; Mimura M.; Hashimoto N.; Suzuki Y.; Tokuyama Y.; Nata K.; Tohgo A.; Ikehata F.; Takasawa S.; Okamoto H.; Makino H.; Saito Y.; Kanatsuka A.;
Diabetologia 41:1024-1028(1998)
Cited for: VARIANT TRP-140;

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.