UniProtKB/SwissProt variant VAR

Variant information

Variant position:

287

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 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.

Variant rs397508804 [ dbSNP | Ensembl ]

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

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.

Type	Positions	Description
Chain	1 – 1480	Cystic fibrosis transmembrane conductance regulator
Topological domain	244 – 298	Cytoplasmic
Domain	81 – 365	ABC transmembrane type-1 1
Helix	278 – 312

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;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Asn287Tyr