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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Asp443Tyr

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 443 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help US 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 Aspartate (D) to Tyrosine (Y) at position 443 (D443Y, p.Asp443Tyr). 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 acidic (D) to large size and aromatic (Y) 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; uncertain significance. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 443 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 NGDDSLFFSNFSLLGTPVLK D INFKIERGQLLAVAGSTGAG 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                         NGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAG

Gorilla                       NGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAG

                              NGDNSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAG

Rhesus macaque                NDDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAG

Chimpanzee                    NGDDSLFFSNFSLLGTPVLKDINFKIERGQLLAVAGSTGAG

Mouse                         SDENNVSFSHLCLVGNPVLKNINLNIEKGEMLAITGSTGSG

Rat                           NGENHLSFSHLCLVGNPVLKNINLNIKKGEMLAITGSTGAG

Pig                           NGDNSLFFSNFSLLGTPVLKDISFKIERGQLLAVAGSTGAG

Bovine                        NGDNSLFFSNL-LLGTPVLKDISFKIERGQLLAVAGSTGAG

Rabbit                        NGDNNLFFSNFSLLGAPVLKDISFKIERGQLLAVAGSTGAG

Sheep                         NCDTSLFFSNL-LLGTPVLKDISFKIERGQLLAVAGSTGAG

Horse                         NGDNSLFFSNFSLLGTPVLKDISFKIERGQLLAVAGSTGAG

Xenopus laevis                NEDPSAFFSNFSLHVAPVLRNINFKIEKGQLLAIAGSTGAG

Zebrafish                     NGDAGLFFTN--LYVAPVLKDISLKLKKGEMLAVTGSMGSG

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
Binding site 434 – 434
Alternative sequence 404 – 464 Missing. In isoform 2.
Beta strand 440 – 449



Literature citations
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;
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.