Variant position: 1085 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 LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Gorilla LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Rhesus macaque LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Chimpanzee LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Mouse LRAFRRQTYFETLFHKALNL HTANWFMYLATLRWFQMRIDM
Rat LRAFRRQTYFETLFHKALNL HTANWFMYLATLRWFQMRIDM
Pig LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Bovine LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Rabbit LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Sheep LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Horse LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMRIEM
Xenopus laevis LRAFGRQPYFETLFHKALNL HTANWFLYLSTLRWFQMTIEM
Zebrafish IRAFERQAYFEALFHKTLNT HTATWFLYLSTLRWFLFRADI
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.
1071 – 1120
Identification of eight novel mutations in a collaborative analysis of a part of the second transmembrane domain of the CFTR gene.
Mercier B.; Lissens W.; Novelli G.; Kalaydjieva L.; De Arce M.; Kapranov N.; Klain N.C.; Lenoir G.; Chauveau P.; Lenaerts C.; Rault G.; Cashman S.; Sangiuolo F.; Audrezet M.-P.; Dallapiccola B.; Guillermit H.; Bonduelle M.; Liebaers I.; Quere I.; Verlingue C.; Ferec C.;
Cited for: VARIANTS CF VAL-1052; ARG-1061; LEU-1066; GLN-1070; ARG-1085 AND ARG-1101;
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