Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Pro111Leu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Feedback?
Variant information Variant position: help 111 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 Proline (P) to Leucine (L) at position 111 (P111L, p.Pro111Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 111 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 GEVTKAVQPLLLGRIIASYD P DNKEERSIAIYLGIGLCLLF 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                         GEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLF

Gorilla                       GEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLF

                              GEVTKAVQPLLLGRIIASYDPDNKQERSIAIYLAIGLCLLF

Rhesus macaque                GEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLF

Chimpanzee                    GEVTKAVQPLLLGRIIASYDPDNKEERSIAIYLGIGLCLLF

Mouse                         GEVTKAVQPVLLGRIIASYDPENKVERSIAIYLGIGLCLLF

Rat                           GEVTKAVQPVLLGRIIASYDPDNTEERSIAIYLGIGLCLLF

Pig                           GEVTKAVQPLLLGRIIASYDPDNKAERSIAIYLGVGLCLLF

Bovine                        GEVTKAVQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLLF

Rabbit                        GEVTKAVQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLLF

Sheep                         GEVTKAVQPLLLGRIIASYDPDNKVERSIAIYLGIGLCLLF

Horse                         GEVTKAVQPLLLGRIIASYDPDNEAERSIAIYLGIGLCLLF

Xenopus laevis                GEVTKAVQPLLLGRIIASYDRDNEHERSIAYYLAIGLCLLF

Zebrafish                     GEATKTVQPQLLGRIIASFDPAHEPERANGYFLAFGLGLLF

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



Literature citations
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
de Meeus A.; Guittard C.; Desgeorges M.; Carles S.; Demaille J.; Claustres M.;
Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364;
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.