Sequence information
Variant position: 569 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:
SGGQRARISLARAVYKDADL
Y LLDSPFGYLDVLTEKEIFES
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 SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Gorilla SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Rhesus macaque SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Chimpanzee SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Mouse SGGQRARISLARAVYKDADLY LLDSPFGYLDVFTEEQVFES
Rat SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEEQIFES
Pig SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Bovine SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Rabbit SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Sheep SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Horse SGGQRARISLARAVYKDADLY LLDSPFGYLDVLTEKEIFES
Xenopus laevis SGGQRARISLARAVYKDADLY LLDSPFSYLDLFTEKEIFES
Zebrafish SGGQKARVALARAVYRDADLY LLDAPFTHLDIATEKEIFDK
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
Beta strand
567 – 573
Literature citations
Detection of five novel mutations of the cystic fibrosis transmembrane regulator (CFTR) gene in Pakistani patients with cystic fibrosis: Y569D, Q98X, 296+12(T>C), 1161delC and 621+2(T>C).
Malone G.; Haworth A.; Schwarz M.J.; Cuppens H.; Super M.;
Hum. Mutat. 11:152-157(1998)
Cited for: VARIANTS CF SER-560 AND ASP-569;
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.