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UniProtKB/Swiss-Prot P13569: Variant p.Ala800Gly

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  800
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  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:  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:  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

Involvement in disease:  Congenital bilateral absence of the vas deferens (CBAVD) [MIM:277180]: Important cause of sterility in men and could represent an incomplete form of cystic fibrosis, as the majority of men suffering from cystic fibrosis lack the vas deferens. {ECO:0000269|PubMed:10651488, ECO:0000269|PubMed:17329263, ECO:0000269|PubMed:7529962, ECO:0000269|PubMed:7539342, ECO:0000269|PubMed:9067761, ECO:0000269|PubMed:9736778, ECO:0000269|Ref.113}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  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:  
Links to websites of interest for the variant.



Sequence information

Variant position:  800
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:   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: 
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:  
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 Intrinsically 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 AND SER-665; CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622; CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;

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.