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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Ala800Gly

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 800 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Alanine (A) to Glycine (G) at position 800 (A800G, p.Ala800Gly). 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: help Change from small size and hydrophobic (A) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In CBAVD; small decrease in bicarbonate transport; increase in chloride channel activity in vitro; no effect on glycan maturation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 800 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1480 The length of the canonical sequence.
Location on the sequence: help GQNIHRKTTASTRKVSLAPQ A NLTELDIYSRRLSQETGLEI 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         GQNIHRKTTASTRKVSLAPQANLT-ELDIYSRRLSQETGLEI

Gorilla                       GQNIHRKTTASTRKVSLAPQANLT-ELDIYSRRLSQETGLE

                              GQSIHRRTTASTRKMSLAPQANLT-EMDIYSRRLSQDSGLE

Rhesus macaque                GQSIHRKTAASTRKVSLAPQANLT-ELDIYSRRLSQETGLE

Chimpanzee                    GQNIHRKTTASTRKVSLAPQANLT-ELDIYSRRLSQETGLE

Mouse                         GSSNLQRTRTSIRKISLVPQISLN-EVDVYSRRLSQDSTLN

Rat                           VSSSLQRTRASIRKISLAPRISLK-EEDIYSRRLSQDSTLN

Pig                           GQSIHRKTATSTRKMSLVPQANLT-EIDIYSRRLSQDTGLE

Bovine                        GQSIHRKTATSTRKMSLAPQASLA-EIDIYSRRLSQDTGLE

Rabbit                        GPSIYRRTTTSARKMSLAPQTNLT-EMDIYSRRLSQESGLE

Sheep                         GQSIHRKTATSTRKMSLAPQASLA-EIDIYSRRLSQDTGLE

Horse                         GQSIHRKTATSTRKMSLAPQANLT-EMDIYSRRLSQDSGLE

Xenopus laevis                GSNAFATRNASVRKMSVNSYSNSSFDLDIYNRRLSQDSILE

Zebrafish                     GRREHLQSSFR-RRLSVVPQSELASELDIYTRRLS-DSTYD
Sequence annotation in neighborhood: help 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
Region 654 – 831 Disordered R region
Modified residue 790 – 790 Phosphoserine; by PKC
Modified residue 795 – 795 Phosphoserine; by PKA
Modified residue 813 – 813 Phosphoserine; by PKA
Alternative sequence 606 – 1480 Missing. In isoform 3.



Literature citations
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800; 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; SER-665; LEU-693 AND LYS-822; CHARACTERIZATION OF VARIANTS CBAVD ASP-622; MET-766; GLY-792; GLY-800 AND MET-807; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-826; Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Nature 410:94-97(2001)
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;
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.