Sequence information
Variant position: 504 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:
HSGRISFCSQFSWIMPGTIK
E NIIFGVSYDEYRYRSVIKAC
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 HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYRSVIKAC
Gorilla HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYRSVIKAC
Rhesus macaque HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYRSVINAC
Chimpanzee HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYRSVIKAC
Mouse HSGRVSFCSQFSWIMPGTIKE NIIFGVSYDEYRYKSVVKAC
Rat HSGRVSFSSQISWIMPGTIKE NIIFGVSYDEYRYKSVVKAC
Pig HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYRSVIKAC
Bovine HSGRISFCSQYSWIMPGTIKD NIIFGVSYDEYRYRSVIKAC
Rabbit HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYKSVIKAC
Sheep HSGRISFCSQYSWIMPGTIKD NIIFGVSYDEYRYRSVIKAC
Horse HSGRISFCSQFSWIMPGTIKE NIIFGVSYDEYRYRSVIKAC
Xenopus laevis HSGRISFSPQVSWIMPGTIKE NIVFGVSYDQYRYLSVIKAC
Zebrafish HSGRISYSSQTAWIMPGTIRD NILFGLTYDEYRYKSVVKAC
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
Binding site
493 – 493
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.
Helix
502 – 507
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
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.