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:
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 ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Gorilla ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Rhesus macaque ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Chimpanzee ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Mouse DNIYSVKAYCWESAMEKMIE NLREVELKMTRKAAYMRFFTS
Rat DNIYSVKAYCWESAMEKIIE SLREEELKMTRRSAYMRFFTS
Pig ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Bovine ENIQSVKAYCWEEAMEKIIE NLRQTELKLTRKAAYVRYLNS
Rabbit ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Sheep ENIQSVKAYCWEEAMEKIIE NLRQTELKLTRKAAYVRYLNS
Horse ENIQSVKAYCWEEAMEKMIE NLRQTELKLTRKAAYVRYFNS
Xenopus laevis ENIQSVKAYCWENAMEKIIE TIRETELKLTRKAAYVRYFNS
Zebrafish ENLHSVKAYGWEEIMETLIK NIRQDEVKLTRKIGSLRYFYS
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
244 – 298 Cytoplasmic
81 – 365 ABC transmembrane type-1 1
279 – 307
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;
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.