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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Val520Phe

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 520 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 Valine (V) to Phenylalanine (F) at position 520 (V520F, p.Val520Phe). 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 hydrophobic (V) to large size and aromatic (F) 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 520 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 GTIKENIIFGVSYDEYRYRS V IKACQLEEDISKFAEKDNIV 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                         GTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV

Gorilla                       GTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV

                              GTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV

Rhesus macaque                GTIKENIIFGVSYDEYRYRSVINACQLEEDISKFAEKDNIV

Chimpanzee                    GTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV

Mouse                         GTIKENIIFGVSYDEYRYKSVVKACQLQQDITKFAEQDNTV

Rat                           GTIKENIIFGVSYDEYRYKSVVKACQLQEDITKFAEQDNTV

Pig                           GTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV

Bovine                        GTIKDNIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNVV

Rabbit                        GTIKENIIFGVSYDEYRYKSVIKACQLEEDISKFTEKDNTV

Sheep                         GTIKDNIIFGVSYDEYRYRSVIKACQLEEDISKFSEKDNIV

Horse                         GTIKENIIFGVSYDEYRYRSVIKACQLEEDISKFAEKDNIV

Xenopus laevis                GTIKENIVFGVSYDQYRYLSVIKACQLEEDISKFPEKDNTV

Zebrafish                     GTIRDNILFGLTYDEYRYKSVVKACQLEEDLAALPEKDKTP
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 359 – 858 Cytoplasmic
Domain 423 – 646 ABC transporter 1
Lipidation 524 – 524 S-palmitoyl cysteine
Mutagenesis 508 – 508 F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Mutagenesis 508 – 508 Missing. Abolishes MARCHF2-mediated degradation.
Mutagenesis 539 – 539 I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Helix 514 – 523



Literature citations
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
Jones C.T.; McIntosh I.; Keston M.; Ferguson A.; Brock D.J.H.;
Hum. Mol. Genet. 1:11-17(1992)
Cited for: VARIANTS CF PHE-520 AND HIS-1291;
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.