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UniProtKB/Swiss-Prot P13569: Variant p.Asp513Gly

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  513
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 Aspartate (D) to Glycine (G) at position 513 (D513G, p.Asp513Gly).
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 medium size and acidic (D) to glycine (G)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
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.
Any additional useful information about the variant.

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



Sequence information

Variant position:  513
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:   QFSWIMPGTIKENIIFGVSY  D EYRYRSVIKACQLEEDISKF
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                         QFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKF

Gorilla                       QFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKF

                              QFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKF

Rhesus macaque                QFSWIMPGTIKENIIFGVSYDEYRYRSVINACQLEEDISKF

Chimpanzee                    QFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKF

Mouse                         QFSWIMPGTIKENIIFGVSYDEYRYKSVVKACQLQQDITKF

Rat                           QISWIMPGTIKENIIFGVSYDEYRYKSVVKACQLQEDITKF

Pig                           QFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKF

Bovine                        QYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQLEEDISKF

Rabbit                        QFSWIMPGTIKENIIFGVSYDEYRYKSVIKACQLEEDISKF

Sheep                         QYSWIMPGTIKDNIIFGVSYDEYRYRSVIKACQLEEDISKF

Horse                         QFSWIMPGTIKENIIFGVSYDEYRYRSVIKACQLEEDISKF

Xenopus laevis                QVSWIMPGTIKENIVFGVSYDQYRYLSVIKACQLEEDISKF

Zebrafish                     QTAWIMPGTIRDNILFGLTYDEYRYKSVVKACQLEEDLAAL

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
Binding site 493 – 493 ATP 1
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.


Literature citations

A novel missense mutation D513G in exon 10 of the cystic fibrosis transmembrane conductance regulator (CFTR) gene identified in a French CBAVD patient.
Bienvenu T.; Bousquet S.; Vidaud D.; Hubert D.; Francoual C.; Beldjord C.; Kaplan J.-C.;
Hum. Mutat. 12:213-214(1998)
Cited for: VARIANT CBAVD GLY-513; VARIANT MET-470;

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.