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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Leu346Pro

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 346 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 Leucine (L) to Proline (P) at position 346 (L346P, p.Leu346Pro). 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 CF; dominant mutation but mild phenotype. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 346 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 ALIKGIILRKIFTTISFCIV L RMAVTRQFPWAVQTWYDSLG 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                         ALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Gorilla                       ALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

                              ALIKTIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Rhesus macaque                ALIKGIVLRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Chimpanzee                    ALIKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Mouse                         TVINGIVLRKIFTTISFCIVLRMSVTRQFPTAVQIWYDSFG

Rat                           TVINGIVLRKIFTTISFCIVLRMSVTRQFPTAVQIWYDSLG

Pig                           ALLKGIMLRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Bovine                        ALLKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Rabbit                        ALTKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Sheep                         ALLKGIILRKIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Horse                         ALIKGIVLRRIFTTISFCIVLRMAVTRQFPWAVQTWYDSLG

Xenopus laevis                LLLDGISLRKIFTTISFSIVLRMAVTRQFPWAVQTWYDSLG

Zebrafish                     ALSRGINLRRIFTTLSYCMVLRMTVTRQLPGSIQMWYDTMR
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 340 – 358 Helical; Name=6
Domain 81 – 365 ABC transmembrane type-1 1
Mutagenesis 347 – 347 R -> D. Decreases glutathione uptake. Increases affinity for glutathione.
Helix 333 – 351



Literature citations
Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Boteva K.; Papageorgiou E.; Georgiou C.; Angastiniotis M.; Middleton L.T.; Constantinou-Deltas C.D.;
Hum. Genet. 93:529-532(1994)
Cited for: VARIANT CF PRO-346;
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.