Sequence information
Variant position: 1070 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:
PIFTHLVTSLKGLWTLRAFG
R QPYFETLFHKALNLHTANWF
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 PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Gorilla PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
PIFTHLLTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Rhesus macaque PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Chimpanzee PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Mouse PIFTHLVTSLKGLWTLRAFRR QTYFETLFHKALNLHTANWF
Rat PIFTHLVTSLKGLWTLRAFRR QTYFETLFHKALNLHTANWF
Pig PIFTHLITSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Bovine PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Rabbit PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Sheep PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Horse PIFTHLVTSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Xenopus laevis PIFAHLITSLKGLWTLRAFGR QPYFETLFHKALNLHTANWF
Zebrafish PIFSHLIMSLKGLWTIRAFER QAYFEALFHKTLNTHTATWF
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.
Literature citations
Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton A.E.; Borowitz D.; Swender P.;
Hum. Mutat. 10:436-442(1997)
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303;
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.