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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.His139Arg

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 139 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 Histidine (H) to Arginine (R) at position 139 (H139R, p.His139Arg). 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 polar (H) to large size and basic (R) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 139 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 IAIYLGIGLCLLFIVRTLLL H PAIFGLHHIGMQMRIAMFSL 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                         IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Gorilla                       IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

                              IAIYLAIGLCLLFIMRPLLLHPAIFGLHHIGMQIRIAMFSL

Rhesus macaque                IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Chimpanzee                    IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Mouse                         IAIYLGIGLCLLFIVRTLLLHPAIFGLHRIGMQMRTAMFSL

Rat                           IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Pig                           IAIYLGVGLCLLFIVRTLLLHPAIFGPHHIGMQMRIAMFSL

Bovine                        IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Rabbit                        IAIYLGIGLCLLFVVRTLLLHPAIFGLHHIGMQMRIAMFSL

Sheep                         IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Horse                         IAIYLGIGLCLLFIVRTLLLHPAIFGLHHIGMQMRIAMFSL

Xenopus laevis                IAYYLAIGLCLLFVVRMLLLHPAIFGLHHIGMQMRIAMFSL

Zebrafish                     NGYFLAFGLGLLFTARFLLLQPAMFGLHHLGMQIRIALFSI
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
Transmembrane 123 – 146 Helical; Name=2
Domain 81 – 365 ABC transmembrane type-1 1
Helix 120 – 164



Literature citations
Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Ferec C.; Novelli G.; Verlingue C.; Quere I.; Dallapiccola B.; Audrezet M.P.; Mercier B.;
Mol. Cell. Probes 9:135-137(1995)
Cited for: VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006;
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.