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UniProtKB/Swiss-Prot Q9BXL7: Variant p.Glu57Asp

Caspase recruitment domain-containing protein 11
Gene: CARD11
Variant information

Variant position:  57
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Glutamate (E) to Aspartate (D) at position 57 (E57D, p.Glu57Asp).
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:  Similar physico-chemical property. Both residues are medium size and acidic.
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  2
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:  In IMD11B; no effect on protein abundance; decreased interaction with BCL10; dominant negative effect on NF-kappa-B signaling; dominant negative effect on TORC1 signaling.
Any additional useful information about the variant.



Sequence information

Variant position:  57
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1154
The length of the canonical sequence.

Location on the sequence:   INPAKLTPYLRQCKVIDEQD  E DEVLNAPMLPSKINRAGRLL
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                         INPAKLTPYLRQCKVIDEQDEDEVLNAPMLPSKINRAGRLL

Mouse                         INPAKLTPYLRQCKVIDEQDEDEVLNAPMLPSKINRAGRLL

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 – 1154 Caspase recruitment domain-containing protein 11
Domain 18 – 110 CARD
Helix 54 – 61


Literature citations

Germline hypomorphic CARD11 mutations in severe atopic disease.
Ma C.A.; Stinson J.R.; Zhang Y.; Abbott J.K.; Weinreich M.A.; Hauk P.J.; Reynolds P.R.; Lyons J.J.; Nelson C.G.; Ruffo E.; Dorjbal B.; Glauzy S.; Yamakawa N.; Arjunaraja S.; Voss K.; Stoddard J.; Niemela J.; Zhang Y.; Rosenzweig S.D.; McElwee J.J.; DiMaggio T.; Matthews H.F.; Jones N.; Stone K.D.; Palma A.; Oleastro M.; Prieto E.; Bernasconi A.R.; Dubra G.; Danielian S.; Zaiat J.; Marti M.A.; Kim B.; Cooper M.A.; Romberg N.; Meffre E.; Gelfand E.W.; Snow A.L.; Milner J.D.;
Nat. Genet. 49:1192-1201(2017)
Cited for: INVOLVEMENT IN IMD11B; VARIANTS IMD11B ASP-57; PRO-194 AND TRP-975; CHARACTERIZATION OF VARIANTS IMD11B ASP-57; PRO-194 AND TRP-975; CHARACTERIZATION OF VARIANT BENTA GLY-134; FUNCTION; INTERACTION WITH BCL10;

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.