Variant position: 579 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:
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 ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Gorilla ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Rhesus macaque ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Chimpanzee ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Mouse ARAVYKDADLYLLDSPFGYL DVFTEEQVFESCVCKLMANKT
Rat ARAVYKDADLYLLDSPFGYL DVLTEEQIFESCVCKLMASKT
Pig ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Bovine ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCICKLMANKT
Rabbit ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Sheep ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Horse ARAVYKDADLYLLDSPFGYL DVLTEKEIFESCVCKLMANKT
Xenopus laevis ARAVYKDADLYLLDSPFSYL DLFTEKEIFESCVCKLMANKT
Zebrafish ARAVYRDADLYLLDAPFTHL DIATEKEIFDKCLCKLMASKT
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
1 – 1480 Cystic fibrosis transmembrane conductance regulator
359 – 858 Cytoplasmic
423 – 646 ABC transporter 1
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;
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.