Variant position: 122 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 247 The length of the canonical sequence.
Location on the sequence:
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 KTLNNDIMLIKLSSRAVINA RVSTISLPTAPPATGTKCLIS
Rat WTLNNDIMLIKLSSPVKLNA RVAPVALPSACAPAGTQCLIS
Bovine NTLNNDIMLIKLKSAASLNS RVASISLPTSCASAGTQCLIS
Chicken NTLNNDIMLIKLSKAATLNS YVNTVPLPTSCVTAGTTCLIS
Xenopus laevis YTLDNDIMLIKLSSPASLNA AVNTVPLPSGCSAAGTSCLIS
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.
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.;
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.;
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;
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