UniProtKB/Swiss-Prot Q99895: Variant p.Gln48Arg

Chymotrypsin-C
Gene: CTRC
Feedback?

Variant information Variant position:

48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Glutamine (Q) to Arginine (R) at position 48 (Q48R, p.Gln48Arg). 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:

Change from medium size and polar (Q) to large size and basic (R) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 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:

Rare variant that may be a risk factor for pancreatitis; results in markedly reduced protein secretion. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs536812916 [ dbSNP | Ensembl ]

Sequence information Variant position:

48 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

268 The length of the canonical sequence.
Location on the sequence:

ARVVGGEDARPHSWPWQISL Q YLKNDTWRHTCGGTLIASNF 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                         ARVVGGEDARPHSWPWQISLQYLKNDTWRHTCGGTLIASNF

Mouse                         ARVVGGEDAVPNSWPWQVSLQYLRDDTWRHTCGGSLITTSH

Rat                           TRVVGGEDAVPNSWPWQVSLQYLKDDTWRHTCGGSLITTSH

Bovine                        ARVVGGEDAIPHSWPWQISLQYLRDNTWRHTCGGTLITPNH

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.

Type	Positions	Description
Chain	30 – 268	Chymotrypsin-C
Domain	30 – 267	Peptidase S1
Glycosylation	52 – 52	N-linked (GlcNAc...) asparagine
Disulfide bond	17 – 141
Beta strand	44 – 51

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; Comprehensive screening of chymotrypsin C (CTRC) gene in tropical calcific pancreatitis identifies novel variants.
Paliwal S.; Bhaskar S.; Mani K.R.; Reddy D.N.; Rao G.V.; Singh S.P.; Thomas V.; Chandak G.R.;
Gut 62:1602-1606(2013)
Cited for: VARIANTS ARG-48; GLU-172; CYS-246 AND THR-257; VARIANTS PCTT THR-73; ILE-235 AND TRP-254; Comprehensive functional analysis of chymotrypsin C (CTRC) variants reveals distinct loss-of-function mechanisms associated with pancreatitis risk.
Beer S.; Zhou J.; Szabo A.; Keiles S.; Chandak G.R.; Witt H.; Sahin-Toth M.;
Gut 62:1616-1624(2013)
Cited for: VARIANTS ARG-18; TYR-35 AND SER-227; VARIANTS PCTT ARG-178 AND GLU-250; CHARACTERIZATION OF VARIANTS ARG-18; TYR-35; ARG-48; ARG-61; ARG-220 AND GLN-254; CHARACTERIZATION OF VARIANTS PCTT VAL-32; THR-73; TYR-155; ARG-178; ARG-217; SER-217; ILE-235; 247-LYS--ARG-254 DEL; LEU-249; GLU-250 AND TRP-254;

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.