Sequence information
Variant position: 1071 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:
IFTHLVTSLKGLWTLRAFGR
Q PYFETLFHKALNLHTANWFL
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 IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Gorilla IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
IFTHLLTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Rhesus macaque IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Chimpanzee IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Mouse IFTHLVTSLKGLWTLRAFRRQ TYFETLFHKALNLHTANWFM
Rat IFTHLVTSLKGLWTLRAFRRQ TYFETLFHKALNLHTANWFM
Pig IFTHLITSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Bovine IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Rabbit IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Sheep IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Horse IFTHLVTSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Xenopus laevis IFAHLITSLKGLWTLRAFGRQ PYFETLFHKALNLHTANWFL
Zebrafish IFSHLIMSLKGLWTIRAFERQ AYFEALFHKTLNTHTATWFL
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
1035 – 1095
Cytoplasmic
Domain
859 – 1155
ABC transmembrane type-1 2
Alternative sequence
606 – 1480
Missing. In isoform 3.
Helix
1071 – 1120
Literature citations
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.;
Genomics 21:434-436(1994)
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;
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.