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Literature summary for 3.4.21.2 extracted from

  • Rosendahl, J.; Witt, H.; Szmola, R.; Bhatia, E.; Ozsvari, B.; Landt, O.; Schulz, H.U.; Gress, T.M.; Pfuetzer, R.; Loehr, M.; Kovacs, P.; Blueher, M.; Stumvoll, M.; Choudhuri, G.; Hegyi, P.; te Morsche, R.H.; Drenth, J.P.; Truninger, K.; Macek, M.; Puhl, G.; Witt, U.; Schmidt, H.; Buening, C.; Ockenga, J.
    Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis (2008), Nat. Genet., 40, 78-82.
    View publication on PubMedView publication on EuropePMC

Cloned(Commentary)

Cloned (Comment) Organism
expressed in HEK293-T cells Homo sapiens

Protein Variants

Protein Variants Comment Organism
A73T diminished activity Homo sapiens
G217S specific activity is about 7% of the wild type enzyme Homo sapiens
additional information deletion mutant K247_R254del shows diminished activity Homo sapiens
Q48R mutant shows about 30% activity of the wild type enzyme Homo sapiens
R254W shows about 50% of wild-type activity Homo sapiens
R37Q mutant shows essentially normal activity and secretion (about 82-88% activity of the wild type enzyme) Homo sapiens
V235I CTRC activity secreted by cells transfected with variant V235I is moderately reduced (about 65% of the wild type enzyme) Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens
-
-
-

Source Tissue

Source Tissue Comment Organism Textmining
pancreas
-
Homo sapiens
-

Synonyms

Synonyms Comment Organism
CTRC
-
Homo sapiens