Variant position: 492 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 MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Gorilla MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Rhesus macaque MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Chimpanzee MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Mouse LGELEASEGIIKHSGRVSFC SQFSWIMPGTIKENIIFGVSY
Rat LGELEASEGIIKHSGRVSFS SQISWIMPGTIKENIIFGVSY
Pig MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Bovine MGELEPSEGKIKHSGRISFC SQYSWIMPGTIKDNIIFGVSY
Rabbit MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Sheep MGELEPSEGKIKHSGRISFC SQYSWIMPGTIKDNIIFGVSY
Horse MGELEPSEGKIKHSGRISFC SQFSWIMPGTIKENIIFGVSY
Xenopus laevis MGELEPSAGKIKHSGRISFS PQVSWIMPGTIKENIVFGVSY
Zebrafish LGELVPSSGKIRHSGRISYS SQTAWIMPGTIRDNILFGLTY
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
493 – 493 ATP 1
508 – 508 F -> R. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
No reference for the current variant in UniProtKB/Swiss-Prot.
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.