Sequence information
Variant position: 456 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:
LGTPVLKDINFKIERGQLLA
V AGSTGAGKTSLLMVIMGELE
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 LGTPVLKDINFKIERGQLLAV AGSTGAGKTSLLMVIMGELE
Gorilla LGTPVLKDINFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Rhesus macaque LGTPVLKDINFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Chimpanzee LGTPVLKDINFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Mouse VGNPVLKNINLNIEKGEMLAI TGSTGSGKTSLLMLILGELE
Rat VGNPVLKNINLNIKKGEMLAI TGSTGAGKTSLLMLILGELE
Pig LGTPVLKDISFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Bovine LGTPVLKDISFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Rabbit LGAPVLKDISFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Sheep LGTPVLKDISFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Horse LGTPVLKDISFKIERGQLLAV AGSTGAGKTSLLMMIMGELE
Xenopus laevis HVAPVLRNINFKIEKGQLLAI AGSTGAGKTSLLMMIMGELE
Zebrafish YVAPVLKDISLKLKKGEMLAV TGSMGSGKSSLLMTILGELV
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
Alternative sequence
404 – 464
Missing. In isoform 2.
Mutagenesis
464 – 464
K -> M. Impaired maturation of glycan chains indicating impaired trafficking from the endoplasmic reticulum to the cell membrane.
Beta strand
453 – 457
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.