UniProtKB/Swiss-Prot Q9NQ38: Variant p.Ser368Asn

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 368 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 Serine (S) to Asparagine (N) at position 368 (S368N, p.Ser368Asn). 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 small size and polar (S) 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 rs2303063 [ dbSNP | Ensembl ]

Sequence information

Variant position: 368 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1064 The length of the canonical sequence.
Location on the sequence: EARARNKRESGKATSYAELC S EYRKLVRNGKLACTRENDPI 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.
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	23 – 1064	Serine protease inhibitor Kazal-type 5
Peptide	356 – 423	Hemofiltrate peptide HF7665
Domain	361 – 423	Kazal-like 6
Disulfide bond	367 – 403
Helix	367 – 370

Literature citations

LEKTI, a novel 15-domain type of human serine proteinase inhibitor.
Maegert H.-J.; Staendker L.; Kreutzmann P.; Zucht H.-D.; Reinecke M.; Sommerhoff C.P.; Fritz H.; Forssmann W.-G.;
J. Biol. Chem. 274:21499-21502(1999)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS F-L); PARTIAL PROTEIN SEQUENCE; VARIANTS ARG-267; VAL-335; ASN-368; GLU-420 AND GLN-711; FUNCTION; TISSUE SPECIFICITY; Mutations in SPINK5, encoding a serine protease inhibitor, cause Netherton syndrome.
Chavanas S.; Bodemer C.; Rochat A.; Hamel-Teillac D.; Ali M.; Irvine A.D.; Bonafe J.-L.; Wilkinson J.; Taieb A.; Barrandon Y.; Harper J.I.; de Prost Y.; Hovnanian A.;
Nat. Genet. 25:141-142(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; INVOLVEMENT IN NETHERTON SYNDROME; VARIANTS ARG-267 AND ASN-368; SPINK5, the defective gene in netherton syndrome, encodes multiple LEKTI isoforms derived from alternative pre-mRNA processing.
Tartaglia-Polcini A.; Bonnart C.; Micheloni A.; Cianfarani F.; Andre A.; Zambruno G.; Hovnanian A.; D'Alessio M.;
J. Invest. Dermatol. 126:315-324(2006)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS SHORT; F-L AND LONG); ALTERNATIVE SPLICING; VARIANTS ARG-267; VAL-335; ASN-368; GLU-420 AND GLN-711;