UniProtKB/Swiss-Prot Q9BXL6: Variant p.Arg62Gln

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

62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Arginine (R) to Glutamine (Q) at position 62 (R62Q, p.Arg62Gln). 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 large size and basic (R) to medium size and polar (Q) 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.

Variant rs115582620 [ dbSNP | Ensembl ]

Sequence information Variant position:

62 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:

YLRQAKVLCQLDEEEVLHSP R LTNSAMRAGHLLDLLKTRGK 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                         YLRQAKVLCQLDEEEVLHSPRLTNSAMRAGHLLDLLKTRGK

Mouse                         YLRQAKVLGQLDEEEILHSSRFTNSAMRVGHLLDLLKARGK

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
Chain	1 – 1004	Caspase recruitment domain-containing protein 14
Domain	15 – 107	CARD
Alternative sequence	1 – 237	Missing. In isoform 3.

Literature citations
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 CYS-218 AND VAL-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.