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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P07477: Variant p.Arg122His

Serine protease 1
Gene: PRSS1
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Variant information Variant position: help 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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 Histidine (H) at position 122 (R122H, p.Arg122His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In PCTT; suppresses an autocleavage site which is probably part of a fail-safe mechanism by which trypsin, which is activated within the pancreas, may be inactivated; loss of this cleavage site would permit autodigestion resulting in pancreatitis. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 247 The length of the canonical sequence.
Location on the sequence: help KTLNNDIMLIKLSSRAVINA R VSTISLPTAPPATGTKCLIS 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KTLNNDIMLIKLSSRAVINARVSTISLPTAPPATGTKCLIS

                              NTIDNDIMLIKLSSPATLNSRVSAIALPKSCPAAGTQCLIS

Rat                           WTLNNDIMLIKLSSPVKLNARVAPVALPSACAPAGTQCLIS

Bovine                        NTLNNDIMLIKLKSAASLNSRVASISLPTSCASAGTQCLIS

Chicken                       NTLNNDIMLIKLSKAATLNSYVNTVPLPTSCVTAGTTCLIS

Xenopus laevis                YTLDNDIMLIKLSSPASLNAAVNTVPLPSGCSAAGTSCLIS
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 24 – 247 Serine protease 1
Chain 24 – 122 Alpha-trypsin chain 1
Domain 24 – 244 Peptidase S1
Active site 107 – 107 Charge relay system
Disulfide bond 30 – 160
Beta strand 120 – 122



Literature citations
Hereditary pancreatitis is caused by a mutation in the cationic trypsinogen gene.
Whitcomb D.C.; Gorry M.C.; Preston R.A.; Furey W.; Sossenheimer M.J.; Ulrich C.D.; Martin S.P.; Gates L.K. Jr.; Amann S.T.; Toskes P.P.; Liddle R.; McGrath K.; Uomo G.; Post J.C.; Ehrlich G.D.;
Nat. Genet. 14:141-145(1996)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 68-151; VARIANT PCTT HIS-122; Mutational screening of patients with nonalcoholic chronic pancreatitis: identification of further trypsinogen variants.
Teich N.; Bauer N.; Mossner J.; Keim V.;
Am. J. Gastroenterol. 97:341-346(2002)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 68-151; VARIANTS PCTT ILE-29; PRO-104; CYS-116; HIS-122 AND PHE-139; Mutations in the cationic trypsinogen gene are associated with recurrent acute and chronic pancreatitis.
Gorry M.C.; Gabbaizedeh D.; Furey W.; Gates L.K. Jr.; Preston R.A.; Aston C.E.; Zhang Y.; Ulrich C.; Ehrlich G.D.; Whitcomb D.C.;
Gastroenterology 113:1063-1068(1997)
Cited for: VARIANTS PCTT ILE-29 AND HIS-122; A signal peptide cleavage site mutation in the cationic trypsinogen gene is strongly associated with chronic pancreatitis.
Witt H.; Luck W.; Becker M.;
Gastroenterology 117:7-10(1999)
Cited for: VARIANTS PCTT VAL-16 AND HIS-122; A CGC>CAT gene conversion-like event resulting in the R122H mutation in the cationic trypsinogen gene and its implication in the genotyping of pancreatitis.
Chen J.-M.; Raguenes O.; Ferec C.; Deprez P.H.; Verellen-Dumoulin C.;
J. Med. Genet. 37:E36-E36(2000)
Cited for: VARIANT PCTT HIS-122;
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.