UniProtKB/SwissProt variant VAR

Variant information

Variant position:

193

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 193 (E193K, p.Glu193Lys).

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 CBAVD and CF; decrease in bicarbonate transport; no effect on chloride channel activity.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs397508759 [ dbSNP | Ensembl ]

Sequence information

Variant position:

193

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:

DKISIGQLVSLLSNNLNKFD E GLALAHFVWIAPLQVALLMG

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                         DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMG

Gorilla                       DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMG

Rhesus macaque                DKISIGQLVSLLSNNLNKFDEGLALAHFVWIVPLQVALLMG

Chimpanzee                    DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVALLMG

Mouse                         DKISIGQLVSLLSNNLNKFDEGLALAHFIWIAPLQVTLLMG

Rat                           DKISIGQLISLLSNNLNKFDEGLALAHFIWIAPLQVVLLMG

Pig                           DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Bovine                        DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Rabbit                        DKISIGQLISLLSNNLNKFDEGLALAHFVWISPLQVTLLMG

Sheep                         DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Horse                         DKISIGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVTLLMG

Xenopus laevis                DKISTGQLVSLLSNNLNKFDEGLALAHFVWIAPLQVLLLMG

Zebrafish                     DKISTGQLVSLMSANLGKFDQSLGMAHFIWISPLQCILCTG

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	147 – 195	Cytoplasmic
Domain	81 – 365	ABC transmembrane type-1 1
Helix	190 – 193

Literature citations

Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800;

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V.; Cremonesi L.; Belloni E.; Pappalardo E.; Bordoni R.; Seia M.; Russo S.; Padoan R.; Giunta A.; Ferrari M.;
Hum. Genet. 96:312-318(1995)
Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579;

Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Nature 410:94-97(2001)
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Glu193Lys