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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P13569: Variant p.Ala561Glu

Cystic fibrosis transmembrane conductance regulator
Gene: CFTR
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Variant information Variant position: help 561
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Glutamate (E) at position 561 (A561E, p.Ala561Glu).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and acidic (E)
BLOSUM score: help -1
Variant description: help In CF; impairs maturation and trafficking to the cell membrane; decrease in channel activity.
Other resources: help


Sequence information Variant position: help 561
Protein sequence length: help 1480
Location on the sequence: help LGEGGITLSGGQRARISLAR A VYKDADLYLLDSPFGYLDVL
Residue conservation: help 
Human                         LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Gorilla                       LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

                              LGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Rhesus macaque                LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Chimpanzee                    LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Mouse                         LGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVF

Rat                           LGEGGVTLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Pig                           LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Bovine                        LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Rabbit                        LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Sheep                         LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Horse                         LGEGGIQLSGGQRARISLARAVYKDADLYLLDSPFGYLDVL

Xenopus laevis                LGEGGITLSGGQRARISLARAVYKDADLYLLDSPFSYLDLF

Zebrafish                     MAEGGLNLSGGQKARVALARAVYRDADLYLLDAPFTHLDIA
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1480 Cystic fibrosis transmembrane conductance regulator
Topological domain 359 – 858 Cytoplasmic
Domain 423 – 646 ABC transporter 1
Modified residue 549 – 549 Phosphoserine
Helix 550 – 563



Literature citations
Revertant mutants G550E and 4RK rescue cystic fibrosis mutants in the first nucleotide-binding domain of CFTR by different mechanisms.
Roxo-Rosa M.; Xu Z.; Schmidt A.; Neto M.; Cai Z.; Soares C.M.; Sheppard D.N.; Amaral M.D.;
Proc. Natl. Acad. Sci. U.S.A. 103:17891-17896(2006)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-508 DEL; THR-560; GLU-561 AND ILE-562;
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.