UniProtKB/Swiss-Prot Q9Y5K2: Variant p.His197Gln

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 197 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 Histidine (H) to Glutamine (Q) at position 197 (H197Q, p.His197Gln). 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 polar. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: 0 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 rs2569527 [ dbSNP | Ensembl ]

Sequence information

Variant position: 197 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 254 The length of the canonical sequence.
Location on the sequence: VCSKLYDPLYHPSMFCAGGG H DQKDSCNGDSGGPLICNGYL 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	31 – 254	Kallikrein-4
Domain	31 – 252	Peptidase S1
Active site	207 – 207	Charge relay system
Disulfide bond	141 – 241
Disulfide bond	148 – 213
Alternative sequence	160 – 254	Missing. In isoform 2.

Literature citations

Prostase/KLK-L1 is a new member of the human kallikrein gene family, is expressed in prostate and breast tissues, and is hormonally regulated.
Yousef G.M.; Obiezu C.V.; Luo L.-Y.; Black M.H.; Diamandis E.P.;
Cancer Res. 59:4252-4256(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-197; Localization of a new prostate-specific antigen-related serine protease gene, KLK4, is evidence for an expanded human kallikrein gene family cluster on chromosome 19q13.3-13.4.
Stephenson S.A.; Verity K.; Ashworth L.K.; Clements J.A.;
J. Biol. Chem. 274:23210-23214(1999)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT GLN-197; Characterization of the mouse and human PRSS17 genes, their relationship to other serine proteases, and the expression of PRSS17 in developing mouse incisors.
Hu J.C.-C.; Zhang C.; Sun X.; Yang Y.; Cao X.; Ryu O.; Simmer J.P.;
Gene 251:1-8(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; CHARACTERIZATION; VARIANT GLN-197; Distinctly different gene structure of KLK4/KLK-L1/prostase/ARM1 compared with other members of the kallikrein family: intracellular localization, alternative cDNA forms, and Regulation by multiple hormones.
Korkmaz K.S.; Korkmaz C.G.; Pretlow T.G.; Saatcioglu F.;
DNA Cell Biol. 20:435-445(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANT GLN-197; ALTERNATIVE SPLICING; The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
The MGC Project Team;
Genome Res. 14:2121-2127(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1); VARIANT GLN-197; Cloning and characterization of a cDNA encoding human EMSP1.
Simmer J.P.; Ryu O.H.; Qian Q.; Zhang C.; Cao X.; Sun X.; Hu C.-C.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 22-254 (ISOFORM 1); VARIANT GLN-197; Crystal structures of human tissue kallikrein 4: activity modulation by a specific zinc binding site.
Debela M.; Magdolen V.; Grimminger V.; Sommerhoff C.; Messerschmidt A.; Huber R.; Friedrich R.; Bode W.; Goettig P.;
J. Mol. Biol. 362:1094-1107(2006)
Cited for: PROTEIN SEQUENCE OF 31-35; X-RAY CRYSTALLOGRAPHY (1.95 ANGSTROMS) OF 31-253; ACTIVE SITE; ZINC-BINDING SITES; DISULFIDE BONDS; VARIANT GLN-197;