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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Ile1027Thr

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1027 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LB/B 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 Isoleucine (I) to Threonine (T) at position 1027 (I1027T, p.Ile1027Thr). 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 (I) to medium size and polar (T) 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

Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1027 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 VVAVLQPYIFVATVPVIVAF I MLRAYFLQTSQQLKQLESEG 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                         VVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEG

Gorilla                       VVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEG

                              VVSVLQPYIFLATVPVIAAFIILRAYFLHTSQQLKQLESEG

Rhesus macaque                VVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEG

Chimpanzee                    VVAVLQPYIFVATVPVIVAFIMLRAYFLQTSQQLKQLESEG

Mouse                         VVSALQPYIFLATVPGLVVFILLRAYFLHTAQQLKQLESEG

Rat                           VVSALQPYIFLATVPGLAVFILLRAYFLHTSQQLKQLESEG

Pig                           VVSVLKPYIFLATVPVIVAFILLRAYFLHTSQQLKQLESEG

Bovine                        VVSVLQPYIFLATVPVIAAFILLRAYFLHTSQQLKQLESEG

Rabbit                        VVSVLQPYIFLATVPVIAAFILLRAYFLHTSQQLKQLESEG

Sheep                         VVSVLQPYIFLATVPVIAAFILLRGYFLHTSQQLKQLESEG

Horse                         VVSVLQPYIFLATVPVIAAFIILRAYFLHTSQQLKQLESEG

Xenopus laevis                VVSLLEPYIFLATVPVIVAFILLRSYFLHTSQQLKQLESKA

Zebrafish                     VVSIVRPYIFLAATPLAIIFIVMRKYFLRTGQQLKQLETEA

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 1014 – 1034 Helical; Name=10
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Helix 1015 – 1046



Literature citations
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Genomics 13:770-776(1992)
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303;
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.