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UniProtKB/Swiss-Prot P26651: Variant p.Val324Phe

mRNA decay activator protein ZFP36
Gene: ZFP36
Variant information

Variant position:  324
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 Valine (V) to Phenylalanine (F) at position 324 (V324F, p.Val324Phe).
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 (V) to large size and aromatic (F)
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

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

Sequence information

Variant position:  324
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  326
The length of the canonical sequence.

Location on the sequence:   FAPPQPVAAPRRLPIFNRIS  V SE
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                         FAPPQPVAAPRRLPIFNRISVSE

Mouse                         FGPPQTPAPPRRLPIFNRISVSE

Rat                           FGPPQPPAPPRRLPIFNRISVSE

Bovine                        FGPPQPPAAPRRLPIFNRISVSE

Sheep                         FGPPQPPAAPRRLPIFNRISVSE

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 – 326 mRNA decay activator protein ZFP36
Region 100 – 326 Necessary for localization of ARE-containing mRNAs to processing bodies (PBs)
Region 174 – 326 Necessary for mRNA decay activation
Region 312 – 326 Interaction with CNOT1
Modified residue 323 – 323 Phosphoserine
Mutagenesis 309 – 309 P -> V. Inhibits interaction with SH3KBP1.
Mutagenesis 315 – 315 R -> A. Abolishes interaction with CNOT1.
Mutagenesis 319 – 319 F -> A. Abolishes interaction with CNOT1 and impairs TNF mRNA deadenylation.

Literature citations

NIEHS SNPs program;

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.