UniProtKB/SwissProt variant VAR

Variant information

Variant position:

206

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 Leucine (L) to Tryptophan (W) at position 206 (L206W, p.Leu206Trp).

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 hydrophobic (L) to large size and aromatic (W)

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 and CBAVD.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121908752 [ dbSNP | Ensembl ]

Sequence information

Variant position:

206

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:

NNLNKFDEGLALAHFVWIAP L QVALLMGLIWELLQASAFCG

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                         NNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCG

Gorilla                       NNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCG

Rhesus macaque                NNLNKFDEGLALAHFVWIVPLQVALLMGLIWELLQASAFCG

Chimpanzee                    NNLNKFDEGLALAHFVWIAPLQVALLMGLIWELLQASAFCG

Mouse                         NNLNKFDEGLALAHFIWIAPLQVTLLMGLLWDLLQFSAFCG

Rat                           NNLNKFDEGLALAHFIWIAPLQVVLLMGLLWDLLQFSAFCG

Pig                           NNLNKFDEGLALAHFVWIAPLQVTLLMGLLWELLQASAFCG

Bovine                        NNLNKFDEGLALAHFVWIAPLQVTLLMGLLWELLQAFTFCG

Rabbit                        NNLNKFDEGLALAHFVWISPLQVTLLMGLLWELLQASAFCG

Sheep                         NNLNKFDEGLALAHFVWIAPLQVTLLMGLLWDLLQAFTFCG

Horse                         NNLNKFDEGLALAHFVWIAPLQVTLLMGLLWDLLQASAFCG

Xenopus laevis                NNLNKFDEGLALAHFVWIAPLQVLLLMGLLWDLLQASAFCG

Zebrafish                     ANLGKFDQSLGMAHFIWISPLQCILCTGLIWELIDVNSFCA

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	196 – 216	Helical; Name=3
Domain	81 – 365	ABC transmembrane type-1 1
Helix	200 – 216

Literature citations

Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Desgeorges M.; Rodier M.; Piot M.; Demaille J.; Claustres M.;
Hum. Genet. 96:717-720(1995)
Cited for: VARIANT CF TRP-206;

Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Leu206Trp