Sequence information
Variant position: 287 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:
ENIQSVKAYCWEEAMEKMIE
N LRQTELKLTRKAAYVRYFNS
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 ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Gorilla ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Rhesus macaque ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Chimpanzee ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Mouse DNIYSVKAYCWESAMEKMIEN LREVELKMTRKAAYMRFFTS
Rat DNIYSVKAYCWESAMEKIIES LREEELKMTRRSAYMRFFTS
Pig ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Bovine ENIQSVKAYCWEEAMEKIIEN LRQTELKLTRKAAYVRYLNS
Rabbit ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Sheep ENIQSVKAYCWEEAMEKIIEN LRQTELKLTRKAAYVRYLNS
Horse ENIQSVKAYCWEEAMEKMIEN LRQTELKLTRKAAYVRYFNS
Xenopus laevis ENIQSVKAYCWENAMEKIIET IRETELKLTRKAAYVRYFNS
Zebrafish ENLHSVKAYGWEEIMETLIKN IRQDEVKLTRKIGSLRYFYS
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
244 – 298
Cytoplasmic
Domain
81 – 365
ABC transmembrane type-1 1
Helix
278 – 312
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;
A mutation in the cystic fibrosis transmembrane conductance regulator generates a novel internalization sequence and enhances endocytic rates.
Silvis M.R.; Picciano J.A.; Bertrand C.; Weixel K.; Bridges R.J.; Bradbury N.A.;
J. Biol. Chem. 278:11554-11560(2003)
Cited for: CHARACTERIZATION OF VARIANT CF TYR-287 AND PHE-508 DEL; SUBCELLULAR LOCATION; FUNCTION; GLYCOSYLATION;
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.