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UniProtKB/Swiss-Prot Q9BXL6: Variant p.Gly117Ser

Caspase recruitment domain-containing protein 14
Gene: CARD14
Variant information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
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 Glycine (G) to Serine (S) at position 117 (G117S, p.Gly117Ser).
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 glycine (G) to small size and polar (S)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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

Involvement in disease:  Psoriasis 2 (PSORS2) [MIM:602723]: A common, chronic inflammatory disease of the skin with multifactorial etiology. It is characterized by red, scaly plaques usually found on the scalp, elbows and knees. These lesions are caused by abnormal keratinocyte proliferation and infiltration of inflammatory cells into the dermis and epidermis. {ECO:0000269|PubMed:22521418, ECO:0000269|PubMed:22521419, ECO:0000269|PubMed:26358359, ECO:0000269|PubMed:27071417, ECO:0000269|PubMed:27113748}. Note=Disease susceptibility is associated with variations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Involvement in disease:  Pityriasis rubra pilaris (PRP) [MIM:173200]: A rare, papulosquamous skin disease characterized by the appearance of keratotic follicular papules, well-demarcated salmon-colored erythematous plaques covered with fine powdery scales interspersed with distinct islands of uninvolved skin, and palmoplantar keratoderma. Most cases are sporadic. The rare familial cases show autosomal dominant inheritance with incomplete penetrance and variable expression. Familial PRP usually presents at birth or appears during the first years of life and runs a chronic course. It is characterized by prominent follicular hyperkeratosis, diffuse palmoplantar keratoderma, and erythema. {ECO:0000269|PubMed:22703878, ECO:0000269|PubMed:27760266}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In PSORS2 and PRP; may result in altered splicing of exon 3; increases NF-kappaB transcription factor activity; enhances CBCL10-MALT1-CARD14 complex formation; enhances MALT1 protease activity.
Any additional useful information about the variant.

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



Sequence information

Variant position:  117
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1004
The length of the canonical sequence.

Location on the sequence:   PDVYTLVTGLQPDVDFSNFS  G LMETSKLTECLAGAIGSLQE
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                         PDVYTLVTGLQPDVDFSNFSGLMETSKLTECLAGAIGSLQE

Mouse                         PDVYTLVTGLQSDIDFSTFSGLMETSKLTECLAGAISSLQE

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 – 1004 Caspase recruitment domain-containing protein 14
Alternative sequence 1 – 237 Missing. In isoform 3.


Literature citations

PSORS2 is due to mutations in CARD14.
Jordan C.T.; Cao L.; Roberson E.D.; Pierson K.C.; Yang C.F.; Joyce C.E.; Ryan C.; Duan S.; Helms C.A.; Liu Y.; Chen Y.; McBride A.A.; Hwu W.L.; Wu J.Y.; Chen Y.T.; Menter A.; Goldbach-Mansky R.; Lowes M.A.; Bowcock A.M.;
Am. J. Hum. Genet. 90:784-795(2012)
Cited for: TISSUE SPECIFICITY; VARIANTS PSORS2 SER-117 AND ALA-138; CHARACTERIZATION OF VARIANTS PSORS2 SER-117 AND ALA-138;

Psoriasis mutations disrupt CARD14 autoinhibition promoting BCL10-MALT1-dependent NF-kappaB activation.
Howes A.; O'Sullivan P.A.; Breyer F.; Ghose A.; Cao L.; Krappmann D.; Bowcock A.M.; Ley S.C.;
Biochem. J. 473:1759-1768(2016)
Cited for: FUNCTION; SUBUNIT; CHARACTERIZATION OF VARIANTS PSORS2 SER-117 AND ALA-138;

The paracaspase MALT1 mediates CARD14-induced signaling in keratinocytes.
Afonina I.S.; Van Nuffel E.; Baudelet G.; Driege Y.; Kreike M.; Staal J.; Beyaert R.;
EMBO Rep. 17:914-927(2016)
Cited for: SUBUNIT; FUNCTION; CHARACTERIZATION OF VARIANTS PSORS2 SER-117; ALA-138 AND LYS-142; CHARACTERIZATION OF VARIANT ASN-171;

Rare and Common Variants in CARD14, Encoding an Epidermal Regulator of NF-kappaB, in Psoriasis.
Jordan C.T.; Cao L.; Roberson E.D.; Duan S.; Helms C.A.; Nair R.P.; Duffin K.C.; Stuart P.E.; Goldgar D.; Hayashi G.; Olfson E.H.; Feng B.J.; Pullinger C.R.; Kane J.P.; Wise C.A.; Goldbach-Mansky R.; Lowes M.A.; Peddle L.; Chandran V.; Liao W.; Rahman P.; Krueger G.G.; Gladman D.; Elder J.T.; Menter A.; Bowcock A.M.;
Am. J. Hum. Genet. 90:796-808(2012)
Cited for: VARIANTS CYS-38; GLN-62; ARG-150; ASN-171; HIS-176; HIS-179; LEU-191; ASN-200; GLY-285; ASN-593; TRP-682; SER-714 AND GLU-973; VARIANTS PSORS2 SER-117; ALA-138; LYS-142 AND GLY-142; CHARACTERIZATION OF VARIANTS PSORS2 LYS-142 AND GLY-142;

CARD14 alterations in Tunisian patients with psoriasis and further characterization in European cohorts.
Ammar M.; Jordan C.T.; Cao L.; Lim E.; Bouchlaka Souissi C.; Jrad A.; Omrane I.; Kouidhi S.; Zaraa I.; Anbunathan H.; Mokni M.; Doss N.; Guttman-Yassky E.; El Gaaied A.B.; Menter A.; Bowcock A.M.;
Br. J. Dermatol. 174:330-337(2016)
Cited for: VARIANTS PSORS2 TRP-69; SER-117 GLN-151; TRP-151; LYS-197; PRO-209; THR-216; ALA-420; LEU-602 AND GLY-639; CHARACTERIZATION OF VARIANTS PSORS2 TRP-69; SER-117; ARG-150; GLN-151; TRP-151; LYS-197; PRO-209; THR-216; ALA-420; LEU-602 AND GLY-639; VARIANTS GLN-62; ARG-150; ASN-200; THR-216; CYS-218; VAL-338; PRO-350 AND PRO-357; CHARACTERIZATION OF VARIANTS GLN-151; TRP-151; CYS-218; LEU-602; VAL-338; ALA-420; PRO-209 AND GLY-639;

Pityriasis rubra pilaris type V as an autoinflammatory disease by CARD14 mutations.
Takeichi T.; Sugiura K.; Nomura T.; Sakamoto T.; Ogawa Y.; Oiso N.; Futei Y.; Fujisaki A.; Koizumi A.; Aoyama Y.; Nakajima K.; Hatano Y.; Hayashi K.; Ishida-Yamamoto A.; Fujiwara S.; Sano S.; Iwatsuki K.; Kawada A.; Suga Y.; Shimizu H.; McGrath J.A.; Akiyama M.;
JAMA Dermatol. 153:66-70(2017)
Cited for: VARIANTS PRP SER-117; SER-127 AND LEU-136; VARIANT HIS-176;

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.