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UniProtKB/Swiss-Prot P13569: Variant p.Ala559Thr

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  559
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 Threonine (T) at position 559 (A559T, p.Ala559Thr).
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 polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  0
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; impaired maturation of glycan chains.
Any additional useful information about the variant.

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



Sequence information

Variant position:  559
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:   IVLGEGGITLSGGQRARISL  A RAVYKDADLYLLDSPFGYLD
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                         IVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Gorilla                       IVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

                              IVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Rhesus macaque                IVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Chimpanzee                    IVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Mouse                         TVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Rat                           TVLGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Pig                           IVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Bovine                        VVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Rabbit                        TVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Sheep                         IVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Horse                         IVLGEGGIQLSGGQRARISLARAVYKDADLYLLDSPFGYLD

Xenopus laevis                TVLGEGGITLSGGQRARISLARAVYKDADLYLLDSPFSYLD

Zebrafish                     TPMAEGGLNLSGGQKARVALARAVYRDADLYLLDAPFTHLD

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
Topological domain 359 – 858 Cytoplasmic
Domain 423 – 646 ABC transporter 1
Modified residue 549 – 549 Phosphoserine
Mutagenesis 539 – 539 I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Helix 550 – 563


Literature citations

Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Gregory R.J.; Rich D.P.; Cheng S.H.; Souza D.W.; Paul S.; Manavalan P.; Anderson M.P.; Welsh M.J.; Smith A.E.;
Mol. Cell. Biol. 11:3886-3893(1991)
Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF PHE-508;

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.