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UniProtKB/Swiss-Prot P13569: Variant p.Trp57Gly

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
Variant information

Variant position:  57
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 Tryptophan (W) to Glycine (G) at position 57 (W57G, p.Trp57Gly).
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 large size and aromatic (W) to glycine (G)
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.
Any additional useful information about the variant.

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



Sequence information

Variant position:  57
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:   IYQIPSVDSADNLSEKLERE  W DRELASKKNPKLINALRRCF
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                         IYQIPSVDSADNLSEKLEREWDRELAS-KKNPKLINALRRCF

Gorilla                       IYQIPSVDSADNLSEKLEREWDRELAS-KKNPKLINALRRC

                              IYQVPSTDSADHLSEKLEREWDRELAS-KKNPKLINALRRC

Rhesus macaque                IYQIPSADSADNLSEKLEREWDRELAS-KKNPKLINALRRC

Chimpanzee                    IYQIPSVDSADNLSEKLEREWDRELAS-KKNPKLINALRRC

Mouse                         IYQAPSADSADHLSEKLEREWDREQAS-KKNPQLIHALRRC

Rat                           IYQAPSSDSADHLSEKLEREWDREQAS-KKKPQLIHALRRC

Pig                           IYHISSSDSADNLSEKLEREWDRELAS-KKNPKLINALRRC

Bovine                        IYHISSSDSADNLSEKLEREWDRELAS-KKNPKLINALRRC

Rabbit                        IYQIPSADSADNLSEKLEREWDRELAS-KKKPKLINALRRC

Sheep                         IYHISSSDSADNLSEKLEREWDRELAS-KKNPKLINALRRC

Horse                         IYQIPSADSADNLSEKLEREWDRELVS-KKNPKLINALRRC

Xenopus laevis                IYQIHPGDSADNLSERLEREWDREVATSKKNPKLINALKRC

Zebrafish                     VYQAPSQDAADILAERLEKEWDREVASGKKKPSLLRAMARC

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 1 – 77 Cytoplasmic
Helix 46 – 63


Literature citations

Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V.; Cremonesi L.; Belloni E.; Pappalardo E.; Bordoni R.; Seia M.; Russo S.; Padoan R.; Giunta A.; Ferrari M.;
Hum. Genet. 96:312-318(1995)
Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579;

Identification of a D579G homozygote cystic fibrosis patient with pancreatic sufficiency and minor lung involvement.
Picci L.; Cameran M.; Olante P.; Zacchello F.; Scarpa M.;
Hum. Mutat. 13:173-173(1999)
Cited for: VARIANT CF GLY-579;

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.