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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Glu193Lys

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Glutamate (E) to Lysine (K) at position 193 (E193K, p.Glu193Lys). 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: help Change from medium size and acidic (E) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In CBAVD and CF; decrease in bicarbonate transport; no effect on chloride channel activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 193 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1480 The length of the canonical sequence.
Location on the sequence: help DKISIGQLVSLLSNNLNKFD E GLALAHFVWIAPLQVALLMG 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMG

Gorilla                       DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMG

                              DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Rhesus macaque                DKISIGQLVSLLSNNLNKFDEGLALAHFVWIVPLQVALLMG

Chimpanzee                    DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMG

Mouse                         DKISIGQLVSLLSNNLNKFDEGLALAHFIWIAPLQVTLLMG

Rat                           DKISIGQLISLLSNNLNKFDEGLALAHFIWIAPLQVVLLMG

Pig                           DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Bovine                        DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Rabbit                        DKISIGQLISLLSNNLNKFDEGLALAHFVWISPLQVTLLMG

Sheep                         DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Horse                         DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Xenopus laevis                DKISTGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVLLLMG

Zebrafish                     DKISTGQLVSLMSANLGKFDQSLGMAHFIWISPLQCILCTG
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Topological domain 147 – 195 Cytoplasmic
Domain 81 – 365 ABC transmembrane type-1 1
Helix 190 – 193



Literature citations
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800; Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V.; Cremonesi L.; Belloni E.; Pappalardo E.; Bordoni R.; Seia M.; Russo S.; Padoan R.; Giunta A.; Ferrari M.;
Hum. Genet. 96:312-318(1995)
Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579; Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Nature 410:94-97(2001)
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;
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.