UniProtKB/Swiss-Prot P13569: Variant p.Phe508Cys

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position:

508 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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 Phenylalanine (F) to Cysteine (C) at position 508 (F508C, p.Phe508Cys). 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 aromatic (F) to medium size and polar (C) 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
Other resources:

Links to websites of interest for the variant.

Variant rs74571530 [ dbSNP | Ensembl ]

Sequence information Variant position:

508 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:

ISFCSQFSWIMPGTIKENII F GVSYDEYRYRSVIKACQLEE 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                         ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEE

Gorilla                       ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEE

                              ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEE

Rhesus macaque                ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVINACQLEE

Chimpanzee                    ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEE

Mouse                         VSFCSQFSWIMPGTIKENIIFGVSYDEYRYKSVVKACQLQQ

Rat                           VSFSSQISWIMPGTIKENIIFGVSYDEYRYKSVVKACQLQE

Pig                           ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEE

Bovine                        ISFCSQYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQLEE

Rabbit                        ISFCSQFSWIMPGTIKENIIFGVSYDEYRYKSVIKACQLEE

Sheep                         ISFCSQYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQLEE

Horse                         ISFCSQFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEE

Xenopus laevis                ISFSPQVSWIMPGTIKENIVFGVSYDQYRYLSVIKACQLEE

Zebrafish                     ISYSSQTAWIMPGTIRDNILFGLTYDEYRYKSVVKACQLEE

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	359 – 858	Cytoplasmic
Domain	423 – 646	ABC transporter 1
Binding site	493 – 493
Lipidation	524 – 524	S-palmitoyl cysteine
Mutagenesis	508 – 508	F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Mutagenesis	508 – 508	Missing. Abolishes MARCHF2-mediated degradation.

Literature citations
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;

Disclaimer: Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.