UniProtKB/Swiss-Prot P35030: Variant p.Thr188Ala

Trypsin-3
Gene: PRSS3
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Variant information Variant position:

188 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 Threonine (T) to Alanine (A) at position 188 (T188A, p.Thr188Ala). 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 polar (T) to small size and hydrophobic (A) 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 rs855581 [ dbSNP | Ensembl ]

Sequence information Variant position:

188 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

304 The length of the canonical sequence.
Location on the sequence:

IKLSSPAVINARVSTISLPT T PPAAGTECLISGWGNTLSFG 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                         IKLSSPAVINARVSTISLPTTPPAAGTECLISGWGNTLSFG

Rat                           IKLNSPATLNSRVSTVSLPRSCGSSGTKCLVSGWGNTLSSG

Chicken                       IKLASAVEYSADIQPIALPSSCAKAGTECLISGWGNTLSNG

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	81 – 304	Trypsin-3
Domain	81 – 301	Peptidase S1
Disulfide bond	87 – 217

Literature citations
Cloning of the cDNA encoding human brain trypsinogen and characterization of its product.
Wiegand U.; Corbach S.; Minn A.; Kang J.; Mueller-Hill B.;
Gene 136:167-175(1993)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 2); VARIANT ALA-188; TISSUE SPECIFICITY; Nucleotide sequence of the human pancreatic trypsinogen III cDNA.
Tani T.; Kawashima I.; Mita K.; Takiguchi Y.;
Nucleic Acids Res. 18:1631-1631(1990)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); VARIANTS ALA-188 AND CYS-232; Identification and expression of the cDNA-encoding human mesotrypsin(ogen), an isoform of trypsin with inhibitor resistance.
Nyaruhucha C.N.; Kito M.; Fukuoka S.I.;
J. Biol. Chem. 272:10573-10578(1997)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 3); FUNCTION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; VARIANT ALA-188; Sequence of a large duplication from human chromosome 7 to chromosome 9 containing a portion of the T cell receptor beta locus and trypsinogen locus.
Rowen L.; Trask B.; Boysen C.; Qin S.; Wang K.; Ahearn M.E.; Hood L.;
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] (ISOFORM 3); VARIANT ALA-188; Keratinocytes synthesize enteropeptidase and multiple forms of trypsinogen during terminal differentiation.
Nakanishi J.; Yamamoto M.; Koyama J.; Sato J.; Hibino T.;
J. Invest. Dermatol. 130:944-952(2010)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORMS 1 AND 5); VARIANT ALA-188; Submission
Mural R.J.; Istrail S.; Sutton G.; Florea L.; Halpern A.L.; Mobarry C.M.; Lippert R.; Walenz B.; Shatkay H.; Dew I.; Miller J.R.; Flanigan M.J.; Edwards N.J.; Bolanos R.; Fasulo D.; Halldorsson B.V.; Hannenhalli S.; Turner R.; Yooseph S.; Lu F.; Nusskern D.R.; Shue B.C.; Zheng X.H.; Zhong F.; Delcher A.L.; Huson D.H.; Kravitz S.A.; Mouchard L.; Reinert K.; Remington K.A.; Clark A.G.; Waterman M.S.; Eichler E.E.; Adams M.D.; Hunkapiller M.W.; Myers E.W.; Venter J.C.;
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]; VARIANT ALA-188; 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 3); VARIANT ALA-188;

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.