UniProtKB/SwissProt variant VAR

Variant information

Variant position:

113

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 Aspartate (D) to Asparagine (N) at position 113 (D113N, p.Asp113Asn).

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 (D) to medium size and polar (N)

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 rs179363896 [ dbSNP | Ensembl ]

Sequence information

Variant position:

113

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

Protein sequence length:

419

The length of the canonical sequence.

Location on the sequence:

LMCKFQEARKLVERLGLEKL D LKRQKEQALREVEHLKRCQQ

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                         LMCKFQEARKLVERLGLEKLDLKRQKEQALREVEHLKRCQQ

Mouse                         LMCKFQEARKLVERLSLEKLDLRSQREQALKELEQLKKCQQ

Rat                           LMCKFQEARKLVERLSLEKLDLRRQREQALEDLEHLKKCQQ

Pig                           LMQKFCEARRLVERLSLEKLELRRQREQALQEVELLKTCQQ

Bovine                        LMQKFQEARDLVVRLSLEKRELRQQREQALKEVERLKTCQQ

Drosophila                    -LCSLQGSAEEVVKL-----------QNMMTEYLALKSTLD

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 – 419	NF-kappa-B essential modulator
Coiled coil	49 – 356
Cross	111 – 111	Glycyl lysine isopeptide (Lys-Gly) (interchain with G-Cter in ubiquitin)
Mutagenesis	115 – 115	K -> R. No change in the ubiquitination level; when associated with R-399.
Helix	38 – 129

Literature citations

Molecular analysis of the genetic defect in a large cohort of IP patients and identification of novel NEMO mutations interfering with NF-kappaB activation.
Fusco F.; Bardaro T.; Fimiani G.; Mercadante V.; Miano M.G.; Falco G.; Israeel A.; Courtois G.; D'Urso M.; Ursini M.V.;
Hum. Mol. Genet. 13:1763-1773(2004)
Cited for: VARIANTS IP LYS-57; LYS-90 DEL AND TRP-123; VARIANT ASN-113; CHARACTERIZATION OF VARIANTS IP LYS-57; LYS-90 DEL AND TRP-123; CHARACTERIZATION OF VARIANT ASN-113;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6K9: Variant p.Asp113Asn