Sequence information
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:
SLIYKKTLKLSSRVLDKISI
G QLVSLLSNNLNKFDEGLALA
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 SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Gorilla SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Rhesus macaque SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Chimpanzee SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Mouse SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Rat SLIYKKTLKLSSRVLDKISIG QLISLLSNNLNKFDEGLALA
Pig SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Bovine SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Rabbit SLIYKKTLKLSSRVLDKISIG QLISLLSNNLNKFDEGLALA
Sheep SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Horse SLIYKKTLKLSSRVLDKISIG QLVSLLSNNLNKFDEGLALA
Xenopus laevis SLIYKKTLKLSSKVLDKISTG QLVSLLSNNLNKFDEGLALA
Zebrafish SIIYKKTLKLSSRVLDKISTG QLVSLMSANLGKFDQSLGMA
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
Chain
1 – 1480
Cystic fibrosis transmembrane conductance regulator
Topological domain
147 – 195
Cytoplasmic
Domain
81 – 365
ABC transmembrane type-1 1
Helix
177 – 185
Literature citations
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.;
Genomics 13:770-776(1992)
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.;
Nature 410:94-97(2001)
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;
Disclaimer:
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.