UniProtKB/SwissProt variant VAR

Variant information

Variant position:

334

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 Arginine (R) to Tryptophan (W) at position 334 (R334W, p.Arg334Trp).

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 basic (R) to large size and aromatic (W)

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 and CBAVD; mild; does not prevent maturation of glycans.

Any additional useful information about the variant.

Other resources:

Links to websites of interest for the variant.

Variant rs121909011 [ dbSNP | Ensembl ]

Sequence information

Variant position:

334

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:

GFFVVFLSVLPYALIKGIIL R KIFTTISFCIVLRMAVTRQF

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                         GFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQF

Gorilla                       GFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQF

Rhesus macaque                GFFVVFLSVLPYALIKGIVLRKIFTTISFCIVLRMAVTRQF

Chimpanzee                    GFFVVFLSVLPYALIKGIILRKIFTTISFCIVLRMAVTRQF

Mouse                         GFFVVFLSVLPYTVINGIVLRKIFTTISFCIVLRMSVTRQF

Rat                           GFFVVFLSVLPYTVINGIVLRKIFTTISFCIVLRMSVTRQF

Pig                           GLFVVFLSVLPYALLKGIMLRKIFTTISFCIVLRMAVTRQF

Bovine                        GFFVVFLSVLPYALLKGIILRKIFTTISFCIVLRMAVTRQF

Rabbit                        GFFVVFLSVLPYALTKGIILRKIFTTISFCIVLRMAVTRQF

Sheep                         GFFVVFLSVLPYALLKGIILRKIFTTISFCIVLRMAVTRQF

Horse                         GFFVVFLSVLPYALIKGIVLRRIFTTISFCIVLRMAVTRQF

Xenopus laevis                GFFVVFLSIVPHLLLDGISLRKIFTTISFSIVLRMAVTRQF

Zebrafish                     AIFVIVAAVVPHALSRGINLRRIFTTLSYCMVLRMTVTRQL

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	320 – 339	Extracellular
Domain	81 – 365	ABC transmembrane type-1 1
Helix	333 – 351

Literature citations

Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
Cheng S.H.; Gregory R.J.; Marshall J.; Paul S.; Souza D.W.; White G.A.; O'Riordan C.R.; Smith A.E.;
Cell 63:827-834(1990)
Cited for: CHARACTERIZATION OF VARIANT CF TRP-334; ILE-507 DEL; PHE-508 DEL; ASP-551 AND ILE-549; MUTAGENESIS OF LYS-464; PHE-508 AND LYS-1250; GLYCOSYLATION;

Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Genomics 13:770-776(1992)
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303;

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.Arg334Trp