UniProtKB/SwissProt variant VAR

Variant information

Variant position:

383

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 Lysine (K) at position 383 (E383K, p.Glu383Lys).

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 medium size and acidic (E) to large size and basic (K)

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

Variant description:

In BLAUS; hyperactive.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs104895477 [ dbSNP | Ensembl ]

Sequence information

Variant position:

383

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:

IFQLLLDHPDRVLLTFDGFD E FKFRFTDRERHCSPTDPTSV

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                         IFQLLLDHPDRVLLTFDGFDEFKFRFTDRERHCSPTDPTSV

Chimpanzee                    IFQLLLDHPDRVLLTFDGFDEFKFRFTDRERHCSPTDPTSV

Mouse                         VFQFLLDHPDRVLLTFDGLDEFKFRFTDRERHCSPIDPTSV

Bovine                        VFQVLLDHPERILLTFDGFDEFRFRFTDQERHCCPTAPTSV

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

Blau syndrome polymorphisms in NOD2 identify nucleotide hydrolysis and helical domain 1 as signalling regulators.
Parkhouse R.; Boyle J.P.; Monie T.P.;
FEBS Lett. 588:3382-3389(2014)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS BLAUS GLN-334; TRP-334; GLY-383; LYS-383; PHE-469; ASP-481; LEU-490; TYR-495; LEU-496; THR-513; CYS-587; ASN-605; PRO-605 AND LYS-670; CHARACTERIZATION OF VARIANTS AND CYS-471;

A new CARD15 mutation in Blau syndrome.
van Duist M.M.; Albrecht M.; Podswiadek M.; Giachino D.; Lengauer T.; Punzi L.; De Marchi M.;
Eur. J. Hum. Genet. 13:742-747(2005)
Cited for: VARIANT BLAUS LYS-383;

NOD2-associated pediatric granulomatous arthritis, an expanding phenotype: study of an international registry and a national cohort in Spain.
Rose C.D.; Arostegui J.I.; Martin T.M.; Espada G.; Scalzi L.; Yague J.; Rosenbaum J.T.; Modesto C.; Cristina Arnal M.; Merino R.; Garcia-Consuegra J.; Carballo Silva M.A.; Wouters C.H.;
Arthritis Rheum. 60:1797-1803(2009)
Cited for: VARIANTS BLAUS GLN-334; TRP-334; LYS-383; LEU-490; TYR-495 AND CYS-587;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9HC29: Variant p.Glu383Lys