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UniProtKB/Swiss-Prot P13569: Variant p.Ala1006Glu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  1006
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  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:  From Alanine (A) to Glutamate (E) at position 1006 (A1006E, p.Ala1006Glu).
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:  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:  -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:  In CF.
Any additional useful information about the variant.

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



Sequence information

Variant position:  1006
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  1480
The length of the canonical sequence.

Location on the sequence:   LLPLTIFDFIQLLLIVIGAI  A VVAVLQPYIFVATVPVIVAF
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: 
The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         LLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAF

Gorilla                       LLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAF

                              LLPLTIFDFIQLLLIVIGAVAVVSVLQPYIFLATVPVIAAF

Rhesus macaque                LLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAF

Chimpanzee                    LLPLTIFDFIQLLLIVIGAIAVVAVLQPYIFVATVPVIVAF

Mouse                         FLPLTIFDFIQLVFIVIGAIIVVSALQPYIFLATVPGLVVF

Rat                           FLPLTIFDFIQLLFIVVGAIIVVSALQPYIFLATVPGLAVF

Pig                           LLPLTIFDFIQLLLIVIGAVAVVSVLKPYIFLATVPVIVAF

Bovine                        LLPLTIFDFVQLLLIVIGAVVVVSVLQPYIFLATVPVIAAF

Rabbit                        LLPLTIFDFIQLLLIVVGAIAVVSVLQPYIFLATVPVIAAF

Sheep                         LLPLTIFDFIQLLLIVIGAVVVVSVLQPYIFLATVPVIAAF

Horse                         LLPLTIFDFIQLLLIVIGAVAVVSVLQPYIFLATVPVIAAF

Xenopus laevis                ILPLSIFDLTQLVLIVIGAITVVSLLEPYIFLATVPVIVAF

Zebrafish                     MLPLLMFDFVQLTVVVVGCILVVSIVRPYIFLAATPLAIIF

Sequence annotation in neighborhood:  
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 991 – 1011 Helical; Name=9
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Helix 986 – 1011


Literature citations

Identification of six novel CFTR mutations in a sample of Italian cystic fibrosis patients.
Ferec C.; Novelli G.; Verlingue C.; Quere I.; Dallapiccola B.; Audrezet M.P.; Mercier B.;
Mol. Cell. Probes 9:135-137(1995)
Cited for: VARIANTS CF PHE-42; LEU-117; ARG-139 AND GLU-1006;

Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.
Tomaiuolo A.C.; Alghisi F.; Petrocchi S.; Surace C.; Roberti M.C.; Bella S.; Lucidi V.; Angioni A.;
Clin. Invest. Med. 33:E234-E239(2010)
Cited for: VARIANTS CF 220-GLN--LEU-1480 DEL; MET-470; PHE-508 DEL; ILE-562 AND GLU-1006;

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.