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:
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 GTIKENIIFGVSYDEYRYRS VIKACQLEEDISKFAEKDNIV
Gorilla GTIKENIIFGVSYDEYRYRS VIKACQLEEDISKFAEKDNIV
Rhesus macaque GTIKENIIFGVSYDEYRYRS VINACQLEEDISKFAEKDNIV
Chimpanzee GTIKENIIFGVSYDEYRYRS VIKACQLEEDISKFAEKDNIV
Mouse GTIKENIIFGVSYDEYRYKS VVKACQLQQDITKFAEQDNTV
Rat GTIKENIIFGVSYDEYRYKS VVKACQLQEDITKFAEQDNTV
Pig GTIKENIIFGVSYDEYRYRS VIKACQLEEDISKFAEKDNIV
Bovine GTIKDNIIFGVSYDEYRYRS VIKACQLEEDISKFAEKDNVV
Rabbit GTIKENIIFGVSYDEYRYKS VIKACQLEEDISKFTEKDNTV
Sheep GTIKDNIIFGVSYDEYRYRS VIKACQLEEDISKFSEKDNIV
Horse GTIKENIIFGVSYDEYRYRS VIKACQLEEDISKFAEKDNIV
Xenopus laevis GTIKENIVFGVSYDQYRYLS VIKACQLEEDISKFPEKDNTV
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
359 – 858 Cytoplasmic
423 – 646 ABC transporter 1
524 – 524 S-palmitoyl cysteine
508 – 508 F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
539 – 539 I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
514 – 523
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;
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.