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UniProtKB/Swiss-Prot P13569: Variant p.Asn287Tyr

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  287
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Asparagine (N) to Tyrosine (Y) at position 287 (N287Y, p.Asn287Tyr).
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 medium size and polar (N) to large size and aromatic (Y)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -2
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; decreased presence at the cell membrane due to increased internalization from the apical cell membrane; no effect on single channel gating and conductance.
Any additional useful information about the variant.

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



Sequence information

Variant position:  287
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:   ENIQSVKAYCWEEAMEKMIE  N LRQTELKLTRKAAYVRYFNS
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                         ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

Gorilla                       ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

                              ENIQSVKAYCWEEAMEKIIENIRQTELKLTRKAAHVRYFNS

Rhesus macaque                ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

Chimpanzee                    ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

Mouse                         DNIYSVKAYCWESAMEKMIENLREVELKMTRKAAYMRFFTS

Rat                           DNIYSVKAYCWESAMEKIIESLREEELKMTRRSAYMRFFTS

Pig                           ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

Bovine                        ENIQSVKAYCWEEAMEKIIENLRQTELKLTRKAAYVRYLNS

Rabbit                        ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

Sheep                         ENIQSVKAYCWEEAMEKIIENLRQTELKLTRKAAYVRYLNS

Horse                         ENIQSVKAYCWEEAMEKMIENLRQTELKLTRKAAYVRYFNS

Xenopus laevis                ENIQSVKAYCWENAMEKIIETIRETELKLTRKAAYVRYFNS

Zebrafish                     ENLHSVKAYGWEEIMETLIKNIRQDEVKLTRKIGSLRYFYS

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 244 – 298 Cytoplasmic
Domain 81 – 365 ABC transmembrane type-1 1
Helix 279 – 307


Literature citations

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;

A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
Silvis M.R.; Picciano J.A.; Bertrand C.; Weixel K.; Bridges R.J.; Bradbury N.A.;
J. Biol. Chem. 278:11554-11560(2003)
Cited for: CHARACTERIZATION OF VARIANT CF TYR-287 AND PHE-508 DEL; SUBCELLULAR LOCATION; FUNCTION; GLYCOSYLATION;

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.