UniProtKB/SwissProt variant VAR

Variant information

Variant position:

1071

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 Glutamine (Q) to Proline (P) at position 1071 (Q1071P, p.Gln1071Pro).

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 (Q) to medium size and hydrophobic (P)

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.

Variant rs121909037 [ dbSNP | Ensembl ]

Sequence information

Variant position:

1071

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:

IFTHLVTSLKGLWTLRAFGR Q PYFETLFHKALNLHTANWFL

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                         IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Gorilla                       IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

                              IFTHLLTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Rhesus macaque                IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Chimpanzee                    IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Mouse                         IFTHLVTSLKGLWTLRAFRRQTYFETLFHKALNLHTANWFM

Rat                           IFTHLVTSLKGLWTLRAFRRQTYFETLFHKALNLHTANWFM

Pig                           IFTHLITSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Bovine                        IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Rabbit                        IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Sheep                         IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Horse                         IFTHLVTSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Xenopus laevis                IFAHLITSLKGLWTLRAFGRQPYFETLFHKALNLHTANWFL

Zebrafish                     IFSHLIMSLKGLWTIRAFERQAYFEALFHKTLNTHTATWFL

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	1035 – 1095	Cytoplasmic
Domain	859 – 1155	ABC transmembrane type-1 2
Alternative sequence	606 – 1480	Missing. In isoform 3.
Helix	1071 – 1120

Literature citations

Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ghanem N.; Costes B.; Girodon E.; Martin J.; Fanen P.; Goossens M.;
Genomics 21:434-436(1994)
Cited for: VARIANTS CYS-31 AND ILE-1220; VARIANTS CF 890-GLN--LEU-1480 DEL; LEU-912; TYR-949; PRO-1065; PRO-1071 AND 1204-TRP--LEU-1480 DEL;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Gln1071Pro