Variant position: 949 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 MGFFRGLPLVHTLITVSKIL HHKMLHSVLQAPMSTLNTLKA
Gorilla MGFFRGLPLVHTLITVSKIL HHKMLHSVLQAPMSTLNTLKA
Rhesus macaque MGFFRGLPLVHTLITVSKIL HHKMLHSVLQAPMSTLNTLKA
Chimpanzee MGFFRGLPLVHTLITVSKIL HHKMLHSVLQAPMSTLNTLKA
Mouse LSLFRGLPLVHTLITASKIL HRKMLHSILHAPMSTISKLKA
Rat LSLFRGLPLVHTLITASKIL HRKMLHSILHAPMSTFNKLKA
Pig LGLFRGLPLVHTLITVSKIL HRKMLHSVLQAPMSTLNTLKA
Bovine LGLFRGLPLVHTLITVSKTL HHKMLQSVLQAPMSTLNTLKT
Rabbit LGLFRGLPLVHTLITVSKIL HHKMLHSVLQAPMSTLNTLKA
Sheep LGLFRGLPLVHTLITVSKTL HHKMLQSVLQAPMSTLNTLKT
Horse LGLFRGLPLVHTLITVSKIL HHKMLHSVLQAPMSTLNTLKA
Xenopus laevis LGIFRGLPLVHSLISVSKVL HKKMLHAILHAPMSTFNTMRA
Zebrafish MGFFRGLPFVHTTITISKKL HQKMLHAVLSAPMSVLNTMKT
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
940 – 990 Cytoplasmic
859 – 1155 ABC transmembrane type-1 2
606 – 1480 Missing. In isoform 3.
934 – 957
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;
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.