Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9NQ38: Variant p.Arg711Gln

Serine protease inhibitor Kazal-type 5
Gene: SPINK5
Feedback?
Variant information Variant position: help 711 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Glutamine (Q) at position 711 (R711Q, p.Arg711Gln). 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: help 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: help 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: help Links to websites of interest for the variant.


Sequence information Variant position: help 711 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1064 The length of the canonical sequence.
Location on the sequence: help AGHGSSGGGGGNTQDECAEY R EQMKNGRLSCTRESDPVRDA 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: help 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.
TypePositionsDescription
Chain 23 – 1064 Serine protease inhibitor Kazal-type 5
Domain 701 – 757 Kazal-like 11
Disulfide bond 707 – 743



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; 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;
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.