UniProtKB/SwissProt variant VAR

Variant information

Variant position:

569

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 Tyrosine (Y) to Aspartate (D) at position 569 (Y569D, p.Tyr569Asp).

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 large size and aromatic (Y) to medium size and acidic (D)

The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:

-3

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.

Variant rs397508276 [ dbSNP | Ensembl ]

Sequence information

Variant position:

569

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:

SGGQRARISLARAVYKDADL Y LLDSPFGYLDVLTEKEIFES

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                         SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Gorilla                       SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

                              SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Rhesus macaque                SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Chimpanzee                    SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Mouse                         SGGQRARISLARAVYKDADLYLLDSPFGYLDVFTEEQVFES

Rat                           SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEEQIFES

Pig                           SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Bovine                        SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Rabbit                        SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Sheep                         SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Horse                         SGGQRARISLARAVYKDADLYLLDSPFGYLDVLTEKEIFES

Xenopus laevis                SGGQRARISLARAVYKDADLYLLDSPFSYLDLFTEKEIFES

Zebrafish                     SGGQKARVALARAVYRDADLYLLDAPFTHLDIATEKEIFDK

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	359 – 858	Cytoplasmic
Domain	423 – 646	ABC transporter 1
Modified residue	549 – 549	Phosphoserine
Beta strand	567 – 573

Literature citations

Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).
Malone G.; Haworth A.; Schwarz M.J.; Cuppens H.; Super M.;
Hum. Mutat. 11:152-157(1998)
Cited for: VARIANTS CF SER-560 AND ASP-569;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Tyr569Asp