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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Arg75Gln

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 75 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 Arginine (R) to Glutamine (Q) at position 75 (R75Q, p.Arg75Gln). 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 large size and basic (R) to medium size and polar (Q) 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 CF. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 75 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 REWDRELASKKNPKLINALR R CFFWRFMFYGIFLYLGEVTK 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                         REWDRELAS-KKNPKLINALRRCFFWRFMFYGIFLYLGEVTK

Gorilla                       REWDRELAS-KKNPKLINALRRCFFWRFMFYGIFLYLGEVT

                              REWDRELAS-KKNPKLINALRRCFFWRFAFYGILLYLGEVT

Rhesus macaque                REWDRELAS-KKNPKLINALRRCFFWRFMFYGILLYLGEVT

Chimpanzee                    REWDRELAS-KKNPKLINALRRCFFWRFMFYGIFLYLGEVT

Mouse                         REWDREQAS-KKNPQLIHALRRCFFWRFLFYGILLYLGEVT

Rat                           REWDREQAS-KKKPQLIHALRRCFVWRFVFYGVLLYLGEVT

Pig                           REWDRELAS-KKNPKLINALRRCFFWRFMFYGIILYLGEVT

Bovine                        REWDRELAS-KKNPKLINALRRCFFWRFMFYGIILYLGEVT

Rabbit                        REWDRELAS-KKKPKLINALRRCFFWRFMFYGILLYLGEVT

Sheep                         REWDRELAS-KKNPKLINALRRCFFWRFMFYGIILYLGEVT

Horse                         REWDRELVS-KKNPKLINALRRCFFWRFMFYGIILYLGEVT

Xenopus laevis                REWDREVATSKKNPKLINALKRCFFWKFLFYGILLYLGEVT

Zebrafish                     KEWDREVASGKKKPSLLRAMARCYIKPFLLFGFLLYIGEAT

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 1 – 77 Cytoplasmic
Helix 70 – 97



Literature citations
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Onay T.; Topaloglu O.; Zielenski J.; Gokgoz N.; Kayserili H.; Camcioglu Y.; Cokugras H.; Akcakaya N.; Apak M.; Tsui L.-C.; Kirdar B.;
Hum. Genet. 102:224-230(1998)
Cited for: VARIANTS CF GLN-75; HIS-110; SER-571; ILE-952; LEU-1013; ILE-1028 AND LYS-1303; Complete mutational screening of the CFTR gene in 120 patients with pulmonary disease.
Bombieri C.; Benetazzo M.; Saccomani A.; Belpinati F.; Gile L.S.; Luisetti M.; Pignatti P.F.;
Hum. Genet. 103:718-722(1998)
Cited for: VARIANTS CYS-31; GLN-75; VAL-506 AND CYS-668; VARIANTS CF CYS-301; ASN-651; MET-754 AND LEU-1072; Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;
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.