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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Arg117His

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 117 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 Histidine (H) at position 117 (R117H, p.Arg117His). 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 (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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 and CBAVD; strong decrease in single channel conductance; promotes rapid return to the closed state of the channel; decrease in bicarbonate transport. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 117 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 VQPLLLGRIIASYDPDNKEE R SIAIYLGIGLCLLFIVRTLL 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                         VQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLL

Gorilla                       VQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLL

                              VQPLLLGRIIASYDPDNKQERSIAIYLAIGLCLLFIMRPLL

Rhesus macaque                VQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLL

Chimpanzee                    VQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLFIVRTLL

Mouse                         VQPVLLGRIIASYDPENKVERSIAIYLGIGLCLLFIVRTLL

Rat                           VQPVLLGRIIASYDPDNTEERSIAIYLGIGLCLLFIVRTLL

Pig                           VQPLLLGRIIASYDPDNKAERSIAIYLGVGLCLLFIVRTLL

Bovine                        VQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLLFIVRTLL

Rabbit                        VQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLLFVVRTLL

Sheep                         VQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLLFIVRTLL

Horse                         VQPLLLGRIIASYDPDNEAERSIAIYLGIGLCLLFIVRTLL

Xenopus laevis                VQPLLLGRIIASYDRDNEHERSIAYYLAIGLCLLFVVRMLL

Zebrafish                     VQPQLLGRIIASFDPAHEPERANGYFLAFGLGLLFTARFLL

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 99 – 122 Extracellular
Domain 81 – 365 ABC transmembrane type-1 1
Helix 114 – 118



Literature citations
Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Cuppens H.; Marynen P.; De Boeck C.; Cassiman J.J.;
Genomics 18:693-697(1993)
Cited for: VARIANTS CF HIS-117; LYS-336; GLU-455; VAL-458; ARG-628; ARG-1235; ASN-1251 AND LYS-1303; Structural analysis of CFTR gene in congenital bilateral absence of vas deferens.
Jezequel P.; Dorval I.; Fergelot P.; Chauvel B.; Le Treut A.; Le Gall J.-Y.; Le Lannou D.; Blayau M.;
Clin. Chem. 41:833-835(1995)
Cited for: VARIANTS CBAVD HIS-117 AND TRP-1070; VARIANT VAL-1067; Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton A.E.; Borowitz D.; Swender P.;
Hum. Mutat. 10:436-442(1997)
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303; 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; 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; On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.
Yu Y.C.; Sohma Y.; Hwang T.C.;
J. Physiol. (Lond.) 594:3227-3244(2016)
Cited for: CHARACTERIZATION OF VARIANT CF HIS-117; FUNCTION; SUBCELLULAR LOCATION;
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.