UniProtKB/SwissProt variant VAR

Variant information

Variant position:

92

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 Glutamate (E) to Lysine (K) at position 92 (E92K, p.Glu92Lys).

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 acidic (E) to large size and basic (K)

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 rs121908751 [ dbSNP | Ensembl ]

Sequence information

Variant position:

92

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:

ALRRCFFWRFMFYGIFLYLG E VTKAVQPLLLGRIIASYDPD

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                         ALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPD

Gorilla                       ALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPD

Rhesus macaque                ALRRCFFWRFMFYGILLYLGEVTKAVQPLLLGRIIASYDPD

Chimpanzee                    ALRRCFFWRFMFYGIFLYLGEVTKAVQPLLLGRIIASYDPD

Mouse                         ALRRCFFWRFLFYGILLYLGEVTKAVQPVLLGRIIASYDPE

Rat                           ALRRCFVWRFVFYGVLLYLGEVTKAVQPVLLGRIIASYDPD

Pig                           ALRRCFFWRFMFYGIILYLGEVTKAVQPLLLGRIIASYDPD

Bovine                        ALRRCFFWRFMFYGIILYLGEVTKAVQPLLLGRIIASYDPD

Rabbit                        ALRRCFFWRFMFYGILLYLGEVTKAVQPLLLGRIIASYDPD

Sheep                         ALRRCFFWRFMFYGIILYLGEVTKAVQPLLLGRIIASYDPD

Horse                         ALRRCFFWRFMFYGIILYLGEVTKAVQPLLLGRIIASYDPD

Xenopus laevis                ALKRCFFWKFLFYGILLYLGEVTKAVQPLLLGRIIASYDRD

Zebrafish                     AMARCYIKPFLLFGFLLYIGEATKTVQPQLLGRIIASFDPA

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
Transmembrane	78 – 98	Helical; Name=1
Domain	81 – 365	ABC transmembrane type-1 1
Helix	70 – 97

Literature citations

Detection of novel and rare mutations in exon 4 of the cystic fibrosis gene by SSCP.
Shackleton S.; Beards F.; Harris A.;
Hum. Mol. Genet. 1:439-440(1992)
Cited for: VARIANTS CF LYS-92 AND CYS-117;

A new missense mutation (E92K) in the first transmembrane domain of the CFTR gene causes a benign cystic fibrosis phenotype.
Nunes V.; Chillon M.; Doerk T.; Tuemmler B.; Casals T.; Estivill X.;
Hum. Mol. Genet. 2:79-80(1993)
Cited for: VARIANT CF LYS-92;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Glu92Lys