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UniProtKB/Swiss-Prot P12724: Variant p.Arg72Cys

Eosinophil cationic protein
Gene: RNASE3
Variant information

Variant position:  72
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 Cysteine (C) at position 72 (R72C, p.Arg72Cys).
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 medium size and polar (C)
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

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

Sequence information

Variant position:  72
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  160
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 28 – 160 Eosinophil cationic protein
Region 28 – 72 Required for nearly all of the bactericidal activity; partially involved in LPS-binding and bacterial membrane depolarization
Site 60 – 60 May be involved in LPS-binding
Site 62 – 62 May be involved in LPS- and LTA-binding
Modified residue 60 – 60 3'-nitrotyrosine
Glycosylation 84 – 84 N-linked (GlcNAc...) asparagine
Glycosylation 92 – 92 N-linked (GlcNAc...) asparagine
Disulfide bond 50 – 110
Disulfide bond 64 – 123
Beta strand 66 – 73

Literature citations

Identification of polymorphisms in the ECP gene. Relation to disease activity in Hodgkins lymphoma.
Bystrom J.; Molin D.; Jonsson U.B.; Enblad G.; Sundstrom C.; Hogbom E.; Venge P.;

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.