Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q99895: Variant p.Asp260Asn

Chymotrypsin-C
Gene: CTRC
Feedback?
Variant information Variant position: help 260
Type of variant: help LB/B
Residue change: help From Aspartate (D) to Asparagine (N) at position 260 (D260N, p.Asp260Asn).
Physico-chemical properties: help Change from medium size and acidic (D) to medium size and polar (N)
BLOSUM score: help 1
Other resources: help


Sequence information Variant position: help 260
Protein sequence length: help 268
Location on the sequence: help RRGCNTRKKPVVYTRVSAYI D WINEKMQL
Residue conservation: help 
Human                         RRGCNTRKKPVVYTRVSAYIDWINEKMQL

Mouse                         SRGCNTYKKPVVFTRVSAYIDWIKEKIQL

Rat                           SSGCNVHKKPVVFTRVSAYNDWINEKIQL

Bovine                        GLSCNTFKKPTVFTRVSAYIDWINQKLQL
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 30 – 268 Chymotrypsin-C
Domain 30 – 267 Peptidase S1
Helix 259 – 265



Literature citations
Chymotrypsin C (CTRC) variants that diminish activity or secretion are associated with chronic pancreatitis.
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.M.; Drenth J.P.H.; Truninger K.; Macek M. Jr.; Puhl G.; Witt U.; Schmidt H.; Buening C.; Ockenga J.; Kage A.; Groneberg D.A.; Nickel R.; Berg T.; Wiedenmann B.; Boedeker H.; Keim V.; Moessner J.; Teich N.; Sahin-Toth M.;
Nat. Genet. 40:78-82(2008)
Cited for: VARIANTS PCTT THR-73; SER-217; ARG-217; ILE-235 AND TRP-254; VARIANTS HIS-35; ASN-35; GLN-37; ARG-48; GLU-172; SER-218; ARG-220; ALA-225; LEU-249 AND ASN-260; CHARACTERIZATION OF VARIANTS PCTT THR-73; SER-217; ILE-235 AND TRP-254; CHARACTERIZATION OF VARIANTS GLN-37 AND ARG-48;
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.