Sequence information
Variant position: 520 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:
GTIKENIIFGVSYDEYRYRS
V IKACQLEEDISKFAEKDNIV
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 GTIKENIIFGVSYDEYRYRSV IKACQLEEDISKFAEKDNIV
Gorilla GTIKENIIFGVSYDEYRYRSV IKACQLEEDISKFAEKDNIV
Rhesus macaque GTIKENIIFGVSYDEYRYRSV INACQLEEDISKFAEKDNIV
Chimpanzee GTIKENIIFGVSYDEYRYRSV IKACQLEEDISKFAEKDNIV
Mouse GTIKENIIFGVSYDEYRYKSV VKACQLQQDITKFAEQDNTV
Rat GTIKENIIFGVSYDEYRYKSV VKACQLQEDITKFAEQDNTV
Pig GTIKENIIFGVSYDEYRYRSV IKACQLEEDISKFAEKDNIV
Bovine GTIKDNIIFGVSYDEYRYRSV IKACQLEEDISKFAEKDNVV
Rabbit GTIKENIIFGVSYDEYRYKSV IKACQLEEDISKFTEKDNTV
Sheep GTIKDNIIFGVSYDEYRYRSV IKACQLEEDISKFSEKDNIV
Horse GTIKENIIFGVSYDEYRYRSV IKACQLEEDISKFAEKDNIV
Xenopus laevis GTIKENIVFGVSYDQYRYLSV IKACQLEEDISKFPEKDNTV
Zebrafish GTIRDNILFGLTYDEYRYKSV VKACQLEEDLAALPEKDKTP
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
359 – 858
Cytoplasmic
Domain
423 – 646
ABC transporter 1
Lipidation
524 – 524
S-palmitoyl cysteine
Mutagenesis
508 – 508
F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Mutagenesis
508 – 508
Missing. Abolishes MARCHF2-mediated degradation.
Mutagenesis
539 – 539
I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Helix
514 – 523
Literature citations
Three novel mutations in the cystic fibrosis gene detected by chemical cleavage: analysis of variant splicing and a nonsense mutation.
Jones C.T.; McIntosh I.; Keston M.; Ferguson A.; Brock D.J.H.;
Hum. Mol. Genet. 1:11-17(1992)
Cited for: VARIANTS CF PHE-520 AND HIS-1291;
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.