Variant position: 178 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 SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Gorilla SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Rhesus macaque SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Chimpanzee SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Mouse SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Rat SLIYKKTLKLSSRVLDKISI GQLISLLSNNLNKFDEGLALA
Pig SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Bovine SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Rabbit SLIYKKTLKLSSRVLDKISI GQLISLLSNNLNKFDEGLALA
Sheep SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Horse SLIYKKTLKLSSRVLDKISI GQLVSLLSNNLNKFDEGLALA
Xenopus laevis SLIYKKTLKLSSKVLDKIST GQLVSLLSNNLNKFDEGLALA
Zebrafish SIIYKKTLKLSSRVLDKIST GQLVSLMSANLGKFDQSLGMA
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
147 – 195 Cytoplasmic
81 – 365 ABC transmembrane type-1 1
177 – 194
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;
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;
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.