Variant position: 1065 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 SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Gorilla SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Rhesus macaque SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Chimpanzee SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Mouse SEGRSPIFTHLVTSLKGLWT LRAFRRQTYFETLFHKALNLH
Rat SEGRSPIFTHLVTSLKGLWT LRAFRRQTYFETLFHKALNLH
Pig SEGRSPIFTHLITSLKGLWT LRAFGRQPYFETLFHKALNLH
Bovine SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Rabbit SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Sheep SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Horse SEGRSPIFTHLVTSLKGLWT LRAFGRQPYFETLFHKALNLH
Xenopus laevis SKARSPIFAHLITSLKGLWT LRAFGRQPYFETLFHKALNLH
Zebrafish TEARSPIFSHLIMSLKGLWT IRAFERQAYFEALFHKTLNTH
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
Identification of eight mutations and three sequence variations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene.
Ghanem N.; Costes B.; Girodon E.; Martin J.; Fanen P.; Goossens M.;
Cited for: VARIANTS CYS-31 AND ILE-1220; VARIANTS CF 890-GLN--LEU-1480 DEL; LEU-912; TYR-949; PRO-1065; PRO-1071 AND 1204-TRP--LEU-1480 DEL;
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.