UniProtKB/Swiss-Prot P13569: Variant p.Val562Ile

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

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

US 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 Valine (V) to Isoleucine (I) at position 562 (V562I, p.Val562Ile). 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:

Similar physico-chemical property. Both residues are medium size and hydrophobic. 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 CBAVD and CF; uncertain significance; found in cis of the IVS8 TG11-T5 allele, which affects exon 9 splicing; no effect on protein maturation, trafficking to the cell membrane, nor on channel activity. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs1800097 [ dbSNP | Ensembl ]

Sequence information Variant position:

562 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:

GEGGITLSGGQRARISLARA V YKDADLYLLDSPFGYLDVLT 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                         GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Gorilla                       GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

                              GEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Rhesus macaque                GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Chimpanzee                    GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Mouse                         GEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVFT

Rat                           GEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Pig                           GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Bovine                        GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Rabbit                        GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Sheep                         GEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Horse                         GEGGIQLSGGQRARISLARAVYKDADLYLLDSPFGYLDVLT

Xenopus laevis                GEGGITLSGGQRARISLARAVYKDADLYLLDSPFSYLDLFT

Zebrafish                     AEGGLNLSGGQKARVALARAVYRDADLYLLDAPFTHLDIAT

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
Modified residue	549 – 549	Phosphoserine
Helix	550 – 563

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; Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.
Roxo-Rosa M.; Xu Z.; Schmidt A.; Neto M.; Cai Z.; Soares C.M.; Sheppard D.N.; Amaral M.D.;
Proc. Natl. Acad. Sci. U.S.A. 103:17891-17896(2006)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL; THR-560; GLU-561 AND ILE-562; 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; Clinical hallmarks and genetic polymorphisms in the CFTR gene contribute to the disclosure of the A1006E mutation.
Tomaiuolo A.C.; Alghisi F.; Petrocchi S.; Surace C.; Roberti M.C.; Bella S.; Lucidi V.; Angioni A.;
Clin. Invest. Med. 33:E234-E239(2010)
Cited for: VARIANTS CF 220-GLN--LEU-1480 DEL; MET-470; PHE-508 DEL; ILE-562 AND GLU-1006;

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.