Sequence information
Variant position: 560 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:
VLGEGGITLSGGQRARISLA
R AVYKDADLYLLDSPFGYLDV
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 VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Gorilla VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
VLGEGGVTLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Rhesus macaque VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Chimpanzee VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Mouse VLGEGGVTLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Rat VLGEGGVTLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Pig VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Bovine VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Rabbit VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Sheep VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Horse VLGEGGIQLSGGQRARISLAR AVYKDADLYLLDSPFGYLDV
Xenopus laevis VLGEGGITLSGGQRARISLAR AVYKDADLYLLDSPFSYLDL
Zebrafish PMAEGGLNLSGGQKARVALAR AVYRDADLYLLDAPFTHLDI
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.
Type Positions Description
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.