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UniProtKB/Swiss-Prot P13569: Variant p.Gly480Cys

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  480
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 Glycine (G) to Cysteine (C) at position 480 (G480C, p.Gly480Cys).
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 medium size and polar (C)
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 CF.
Any additional useful information about the variant.

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



Sequence information

Variant position:  480
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:   TGAGKTSLLMVIMGELEPSE  G KIKHSGRISFCSQFSWIMPG
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                         TGAGKTSLLMVIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Gorilla                       TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

                              TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Rhesus macaque                TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Chimpanzee                    TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Mouse                         TGSGKTSLLMLILGELEASEGIIKHSGRVSFCSQFSWIMPG

Rat                           TGAGKTSLLMLILGELEASEGIIKHSGRVSFSSQISWIMPG

Pig                           TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Bovine                        TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQYSWIMPG

Rabbit                        TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Sheep                         TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQYSWIMPG

Horse                         TGAGKTSLLMMIMGELEPSEGKIKHSGRISFCSQFSWIMPG

Xenopus laevis                TGAGKTSLLMMIMGELEPSAGKIKHSGRISFSPQVSWIMPG

Zebrafish                     MGSGKSSLLMTILGELVPSSGKIRHSGRISYSSQTAWIMPG

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
Mutagenesis 464 – 464 K -> M. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Beta strand 478 – 484


Literature citations

No reference for the current variant in UniProtKB/Swiss-Prot.

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.