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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q13114: Variant p.Arg338Trp

TNF receptor-associated factor 3
Gene: TRAF3
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Variant information Variant position: help 338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance
Residue change: help From Arginine (R) to Tryptophan (W) at position 338 (R338W, p.Arg338Trp). 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: help 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: help -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: help In IMD132A; likely pathogenic; decreased TRAF3 expression in response to stimulation with lipopolysaccharide in patient cells; decreased expression and attenuated TNFA production in response to lipopolysaccharide and M. abscessus in transfected cells. Any additional useful information about the variant.


Sequence information Variant position: help 338 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 568 The length of the canonical sequence.
Location on the sequence: help HLQRVIDSQAEKLKELDKEI R PFRQNWEEADSMKSSVESLQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         HLQRVIDSQAEKLKELDKEIRPFRQNWEEADSMKSSVESLQ

Mouse                         HLQRVIDSQAEKLKELDKEIRPFRQNWEEADSMKSSVESLQ
Sequence annotation in neighborhood: help 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 – 568 TNF receptor-associated factor 3
Coiled coil 267 – 338
Cross 329 – 329 Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)



Literature citations
Dominant negative TRAF3 variant with recurrent Mycobacterium abscessus infection and bronchiectasis.
Liew M.F.; Lim H.F.; Liang M.C.; Lim I.; Tan Z.; Tan R.Y.M.; Sam Q.H.; Soe W.M.; Tay S.H.; Xu S.; Chang M.W.; Foo R.; Soong T.W.; Ravikumar S.; Chai L.Y.A.;
Open Forum Infect. Dis. 9:ofac379-ofac379(2022)
Cited for: VARIANT IMD132A TRP-338; INVOLVEMENT IN IMD132A; CHARACTERIZATION OF VARIANT IMD132A TRP-338;
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.