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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Ala455Glu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 455 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 Alanine (A) to Glutamate (E) at position 455 (A455E, p.Ala455Glu). 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 small size and hydrophobic (A) 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. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 455 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 LLGTPVLKDINFKIERGQLL A VAGSTGAGKTSLLMVIMGEL 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                         LLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMVIMGEL

Gorilla                       LLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

                              LLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Rhesus macaque                LLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Chimpanzee                    LLGTPVLKDINFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Mouse                         LVGNPVLKNINLNIEKGEMLAITGSTGSGKTSLLMLILGEL

Rat                           LVGNPVLKNINLNIKKGEMLAITGSTGAGKTSLLMLILGEL

Pig                           LLGTPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Bovine                        LLGTPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Rabbit                        LLGAPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Sheep                         LLGTPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Horse                         LLGTPVLKDISFKIERGQLLAVAGSTGAGKTSLLMMIMGEL

Xenopus laevis                LHVAPVLRNINFKIEKGQLLAIAGSTGAGKTSLLMMIMGEL

Zebrafish                     LYVAPVLKDISLKLKKGEMLAVTGSMGSGKSSLLMTILGEL
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
Alternative sequence 404 – 464 Missing. In isoform 2.
Mutagenesis 464 – 464 K -> M. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Beta strand 453 – 457



Literature citations
Identification of mutations in regions corresponding to the two putative nucleotide (ATP)-binding folds of the cystic fibrosis gene.
Kerem B.-S.; Zielenski J.; Markiewicz D.; Bozon D.; Gazit E.; Yahav J.; Kennedy D.; Riordan J.R.; Collins F.S.; Rommens J.M.; Tsui L.-C.;
Proc. Natl. Acad. Sci. U.S.A. 87:8447-8451(1990)
Cited for: VARIANTS CF GLU-455; ARG-549; ILE-549; ASP-551; THR-560; ASN-563 AND HIS-574; Detection of 98.5% of the mutations in 200 Belgian cystic fibrosis alleles by reverse dot-blot and sequencing of the complete coding region and exon/intron junctions of the CFTR gene.
Cuppens H.; Marynen P.; De Boeck C.; Cassiman J.J.;
Genomics 18:693-697(1993)
Cited for: VARIANTS CF HIS-117; LYS-336; GLU-455; VAL-458; ARG-628; ARG-1235; ASN-1251 AND LYS-1303; Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton A.E.; Borowitz D.; Swender P.;
Hum. Mutat. 10:436-442(1997)
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 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.