Variant position: 1066 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 EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Gorilla EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Rhesus macaque EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Chimpanzee EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Mouse EGRSPIFTHLVTSLKGLWTL RAFRRQTYFETLFHKALNLHT
Rat EGRSPIFTHLVTSLKGLWTL RAFRRQTYFETLFHKALNLHT
Pig EGRSPIFTHLITSLKGLWTL RAFGRQPYFETLFHKALNLHT
Bovine EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Rabbit EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Sheep EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Horse EGRSPIFTHLVTSLKGLWTL RAFGRQPYFETLFHKALNLHT
Xenopus laevis KARSPIFAHLITSLKGLWTL RAFGRQPYFETLFHKALNLHT
Zebrafish EARSPIFSHLIMSLKGLWTI RAFERQAYFEALFHKTLNTHT
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
1035 – 1095 Cytoplasmic
859 – 1155 ABC transmembrane type-1 2
606 – 1480 Missing. In isoform 3.
1062 – 1068
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303;
Missense mutation R1066C in the second transmembrane domain of CFTR causes a severe cystic fibrosis phenotype: study of 19 heterozygous and 2 homozygous patients.
Casals T.; Pacheco P.; Barreto C.; Gimenez J.; Ramos M.D.; Pereira S.; Pinheiro J.A.; Cobos N.; Curvelo A.; Vazquez C.; Rocha H.; Seculi J.L.; Perez E.; Dapena J.; Carrilho E.; Duarte A.; Palacio A.M.; Nunes V.; Lavinha J.; Estivill X.;
Hum. Mutat. 10:387-392(1997)
Cited for: VARIANT CF CYS-1066;
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.