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UniProtKB/Swiss-Prot P00995: Variant p.Pro55Ser

Serine protease inhibitor Kazal-type 1
Gene: SPINK1
Variant information

Variant position:  55
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Polymorphism
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Proline (P) to Serine (S) at position 55 (P55S, p.Pro55Ser).
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 hydrophobic (P) to small size and polar (S)
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.



Sequence information

Variant position:  55
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  79
The length of the canonical sequence.

Location on the sequence:   ELNGCTKIYDPVCGTDGNTY  P NECVLCFENRKRQTSILIQK
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                         ELNGCTKIYDPVCGTDGNTYPNECVLCFENRKRQTSILIQK

                              KVNGCNKIYNPICGSDGITYANECLLCLENKKRQTSILVEK

Mouse                         AVAGCPRIYDPVCGTDGITYANECVLCFENRKRIEPVLIRK

Rat                           QIMGCPRIYDPVCGTNGITYPSECSLCFENRKFGTSIHIQR

Pig                           EVSGCPKIYNPVCGTDGITYSNECVLCSENKKRQTPVLIQK

Bovine                        EVNGCPRIYNPVCGTDGVTYSNECLLCMENKERQTPVLIQK

Sheep                         EVNGCPRIYNPVCGTDGVTYANECLLCMENKERQTPVLIQK

Horse                         NAGGCTKIYNPVCGTDGNTYPNECMLCVENQKRQMPVLIQR

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.

TypePositionsDescription
Chain 24 – 79 Serine protease inhibitor Kazal-type 1
Domain 26 – 79 Kazal-like
Disulfide bond 32 – 61
Disulfide bond 39 – 58
Disulfide bond 47 – 79
Beta strand 53 – 56


Literature citations

Mutations in the gene encoding the serine protease inhibitor, Kazal type 1 are associated with chronic pancreatitis.
Witt H.; Luck W.; Hennies H.C.; Classen M.; Kage A.; Lass U.; Landt O.; Becker M.;
Nat. Genet. 25:213-216(2000)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS PCTT PRO-14 AND SER-34; VARIANT SER-55;

Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis.
Chen J.-M.; Mercier B.; Audrezet M.-P.; Ferec C.;
J. Med. Genet. 37:67-69(2000)
Cited for: VARIANT PCTT SER-34; VARIANT SER-55;

Mutations in the pancreatic secretory trypsin inhibitor gene (PSTI/SPINK1) rather than the cationic trypsinogen gene (PRSS1) are significantly associated with tropical calcific pancreatitis.
Chandak G.R.; Idris M.M.; Reddy D.N.; Bhaskar S.; Sriram P.V.J.; Singh L.;
J. Med. Genet. 39:347-351(2002)
Cited for: VARIANT TCP SER-34; VARIANT SER-55;

The SPINK1 N34S variant is associated with acute pancreatitis.
O'Reilly D.A.; Witt H.; Rahman S.H.; Schulz H.U.; Sargen K.; Kage A.; Cartmell M.T.; Landt O.; Larvin M.; Demaine A.G.; McMahon M.J.; Becker M.; Kingsnorth A.N.;
Eur. J. Gastroenterol. Hepatol. 20:726-731(2008)
Cited for: VARIANT PCTT SER-34; VARIANT SER-55;

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.