UniProtKB/SwissProt variant VAR

Variant information

Variant position:

382

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 Aspartate (D) to Glutamate (E) at position 382 (D382E, p.Asp382Glu).

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 BLAUS; hyperactive.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104895476 [ dbSNP | Ensembl ]

Sequence information

Variant position:

382

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

Protein sequence length:

1040

The length of the canonical sequence.

Location on the sequence:

DIFQLLLDHPDRVLLTFDGF D EFKFRFTDRERHCSPTDPTS

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                         DIFQLLLDHPDRVLLTFDGFDEFKFRFTDRERHCSPTDPTS

Chimpanzee                    DIFQLLLDHPDRVLLTFDGFDEFKFRFTDRERHCSPTDPTS

Mouse                         DVFQFLLDHPDRVLLTFDGLDEFKFRFTDRERHCSPIDPTS

Bovine                        DVFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTS

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 – 1040	Nucleotide-binding oligomerization domain-containing protein 2
Domain	293 – 618	NACHT
Alternative sequence	225 – 1040	Missing. In isoform 3.
Mutagenesis	379 – 379	D -> A. No disruption in NOD2-CARD9 interaction.

Literature citations

Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome.
Kanazawa N.; Okafuji I.; Kambe N.; Nishikomori R.; Nakata-Hizume M.; Nagai S.; Fuji A.; Yuasa T.; Manki A.; Sakurai Y.; Nakajima M.; Kobayashi H.; Fujiwara I.; Tsutsumi H.; Utani A.; Nishigori C.; Heike T.; Nakahata T.; Miyachi Y.;
Blood 105:1195-1197(2005)
Cited for: VARIANTS BLAUS TRP-334; GLU-382; LEU-496; THR-513; PRO-605; THR-612 AND LYS-670; CHARACTERIZATION OF VARIANTS BLAUS GLU-382; LEU-496; THR-513; PRO-605 AND LYS-670;

Role of the NOD2 genotype in the clinical phenotype of Blau syndrome and early-onset sarcoidosis.
Okafuji I.; Nishikomori R.; Kanazawa N.; Kambe N.; Fujisawa A.; Yamazaki S.; Saito M.; Yoshioka T.; Kawai T.; Sakai H.; Tanizaki H.; Heike T.; Miyachi Y.; Nakahata T.;
Arthritis Rheum. 60:242-250(2009)
Cited for: VARIANTS BLAUS GLN-334; TRP-334; GLU-382; GLY-383; TYR-495; LEU-496; THR-513; PRO-605 AND LYS-670;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HC29: Variant p.Asp382Glu