Variant position: 142 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:
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 SKLTECLAGAIGSLQEELNQ EKGQKEVLLRRCQQLQEHLGL
Mouse SKLTECLAGAISSLQEELAQ EKAQKEVLLRRCQQLKERLGL
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.
Type Positions Description
1 – 1004 Caspase recruitment domain-containing protein 14
128 – 409
1 – 237 Missing. In isoform 3.
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;
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.