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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Phe1052Val

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 1052 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 Phenylalanine (F) to Valine (V) at position 1052 (F1052V, p.Phe1052Val). 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 large size and aromatic (F) to medium size and hydrophobic (V) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -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
Variant description: help In CF. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 1052 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 YFLQTSQQLKQLESEGRSPI F THLVTSLKGLWTLRAFGRQP 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                         YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Gorilla                       YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

                              YFLHTSQQLKQLESEGRSPIFTHLLTSLKGLWTLRAFGRQP

Rhesus macaque                YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Chimpanzee                    YFLQTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Mouse                         YFLHTAQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFRRQT

Rat                           YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFRRQT

Pig                           YFLHTSQQLKQLESEGRSPIFTHLITSLKGLWTLRAFGRQP

Bovine                        YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Rabbit                        YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Sheep                         YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Horse                         YFLHTSQQLKQLESEGRSPIFTHLVTSLKGLWTLRAFGRQP

Xenopus laevis                YFLHTSQQLKQLESKARSPIFAHLITSLKGLWTLRAFGRQP

Zebrafish                     YFLRTGQQLKQLETEARSPIFSHLIMSLKGLWTIRAFERQA
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 1035 – 1095 Cytoplasmic
Domain 859 – 1155 ABC transmembrane type-1 2
Alternative sequence 606 – 1480 Missing. In isoform 3.
Helix 1049 – 1060



Literature citations
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Mercier B.; Lissens W.; Novelli G.; Kalaydjieva L.; De Arce M.; Kapranov N.; Klain N.C.; Lenoir G.; Chauveau P.; Lenaerts C.; Rault G.; Cashman S.; Sangiuolo F.; Audrezet M.-P.; Dallapiccola B.; Guillermit H.; Bonduelle M.; Liebaers I.; Quere I.; Verlingue C.; Ferec C.;
Genomics 16:296-297(1993)
Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101;
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.