Variant position: 29 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 FVAAALAAPF--DDDDKIVGGY NCEENSVPYQVSLNSGYHFCG
Rat LVGAAVAFPL--EDDDKIVGGY TCPEHSVPYQVSLNSGYHF
Bovine LLGAAVAFPV--DDDDKIVGGY TCGANTVPYQVSLNSGYHF
Chicken FVGVTVAFPISDEDDDKIVGGY SCARSAAPYQVSLNSGYHF
Xenopus laevis LLGAAAAF-----DDDKIIGGA TCAKSSVPYIVSLNSGYHF
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.
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;
Mutations of the cationic trypsinogen in hereditary pancreatitis.
Teich N.; Mossner J.; Keim V.;
Hum. Mutat. 12:39-43(1998)
Cited for: VARIANT PCTT ILE-29;
Gene conversion between functional trypsinogen genes PRSS1 and PRSS2 associated with chronic pancreatitis in a six-year-old girl.
Teich N.; Nemoda Z.; Koehler H.; Heinritz W.; Moessner J.; Keim V.; Sahin-Toth M.;
Hum. Mutat. 25:343-347(2005)
Cited for: VARIANTS PCTT ILE-29 AND SER-54; CHARACTERIZATION OF VARIANTS PCTT ILE-29 AND SER-54;
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.