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UniProtKB/Swiss-Prot P13569: Variant p.Gly628Arg

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  628
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 Glycine (G) to Arginine (R) at position 628 (G628R, p.Gly628Arg).
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 glycine (G) to large size and basic (R)
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; impaired maturation of glycan chains.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  628
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:   EHLKKADKILILHEGSSYFY  G TFSELQNLQPDFSSKLMGCD
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                         EHLKKADKILILHEGSSYFYGTFSELQNLQPDFSSKLMGCD

Gorilla                       EHLKKADKILILHEGSSYFYGTFSELQNLRPDFSSKLMGCD

                              EHLKKADKVLILHEGSCYFYGTFSELQSLRPDFSSKLMGYD

Rhesus macaque                EHLKKADKILILHEGSSYFYGTFSELQNLRPDFSSKLMGYD

Chimpanzee                    EHLKKADKILILHEGSSYFYGTFSELQNLRPDFSSKLMGCD

Mouse                         EHLRKADKILILHQGSSYFYGTFSELQSLRPDFSSKLMGYD

Rat                           EQLKKADKILILHEGSSYFYGTFSELQSLRPDFSSKLMGYD

Pig                           EHLKKADKILILHEGSSYFYGTFSELQSQRPDFSSKLMGYD

Bovine                        EHLKKADKILILHEGSIYFYGTFSELQNQRPDFSSKLMGCD

Rabbit                        EHLKKADKILILHEGSSYFYGTFSELQSLRPDFSSKLMGYD

Sheep                         EHLKKADKILILHEGSVYFYGTFSELQNQRPDFSSKLMGCD

Horse                         EHLKKADKILILHEGSSYFYGTFSELQNLRPDFSSKLMGYD

Xenopus laevis                EQLKKADKVLILHEGSCYFYGTFSELEDQRPEFSSHLIG--

Zebrafish                     EHLKRADKILLLHNGESFFYGTFPELQSERPDFSSLLLGLE

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.

TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Topological domain 359 – 858 Cytoplasmic
Domain 423 – 646 ABC transporter 1
Alternative sequence 606 – 1480 Missing. In isoform 3.
Beta strand 623 – 628


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;

Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665; CHARACTERIZATION OF VARIANTS CBAVD ASP-622; GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;

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.