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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Lys1200Glu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1200 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 Lysine (K) to Glutamate (E) at position 1200 (K1200E, p.Lys1200Glu). 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 large size and basic (K) to medium size and acidic (E) 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; uncertain significance. Any additional useful information about the variant.


Sequence information Variant position: help 1200 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 KPYKNGQLSKVMIIENSHVK K DDIWPSGGQMTVKDLTAKYT 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                         KPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYT

Gorilla                       KPYKNGQLSKVMIIENSHVKKDDIWPSGGQMTVKDLTAKYT

                              KPSKDAQLSKVTITENRHVREDDIWPSGGQMTVKDLTAKYI

Rhesus macaque                KPYKNGQLSKVMVIENSHVKKDDIWPSGGQMTVKDLTAKYT

Chimpanzee                    KPYKNGQLSKVMIIENSHVKKDYIWPSGGQMTVKDLTAKYT

Mouse                         KELPREGSSDVLVIKNEHVKKSDIWPSGGEMVVKDLTVKYM

Rat                           KELHSEDSPNALVIKNEHVKKCDTWPSGGEMVVKDLTVKYV

Pig                           KPSKDGQLSKVMIIENQHVKKDDIWPSGGQMTVKDLTAKYV

Bovine                        RPSKDSQPSKVMIIENQHVKKDDIWPSGGQMTVKDLTAKYT

Rabbit                        KPSSNCQLSKVMIIENQHVKKDDVWPSGGQMTVKGLTAKYI

Sheep                         RPSKDSQPSKVMIIENQHVKKDDIWPSGGQMTVKDLTAKYI

Horse                         KPSKDGQLSKVMIIENQYVKKDDIWPSGGQMTVKDLTAKYT

Xenopus laevis                NKNKEEQLSEVLIYENDYVKKTQVWPSGGQMTVKNLSANYI

Zebrafish                     ---KDSDL----IIENVDAQADSSWPHRGQIEVRNLTVKYT

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 1152 – 1480 Cytoplasmic
Binding site 1219 – 1219
Alternative sequence 606 – 1480 Missing. In isoform 3.



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.