Variant position: 1235 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 LTAKYTEGGNAILENISFSI SPGQRVGLLGRTGSGKSTLLS
Gorilla LTAKYTEGGNAILENISFSI SPGQRVGLLGRTGSGKSTLLS
Rhesus macaque LTAKYTEGGNPILENISFSI SPGQRVGLLGRTGSGKSTLLS
Chimpanzee LTAKYTEGGNAILENISFSI SPGQRVGLLGRTGSGKSTLLS
Mouse LTVKYMDDGNAVLENISFSI SPGQRVGLLGRTGSGKSTLLS
Rat LTVKYVDDGNAILENISFSI SPGQRVGLLGRTGSGKSTLLS
Pig LTAKYVDGGNAVLENISFSI SPGQRVGLLGRTGSGKSTLLL
Bovine LTAKYTDGGNAILENISFSI SPGQRVGLLGRTGSGKSTLLL
Rabbit LTAKYIDSGNAILENISFSI SPGQRVGLLGRTGSGKSTLLS
Sheep LTAKYIDGGNAILENISFSI SPGQRVGLLGRTGSGKSTLLL
Horse LTAKYTDGGNAILENISFSI SPGQRVGLLGRTGSGKSTLLS
Xenopus laevis LSANYIDGGNTVLENISFSL SPGQRVGLLGRTGSGKSTLLS
Zebrafish LTVKYTEAGHAVLKNLSFSA EGRQRVGILGRTGSGKSSLFN
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
1152 – 1480 Cytoplasmic
1210 – 1443 ABC transporter 2
1219 – 1219 ATP 2
606 – 1480 Missing. In isoform 3.
1250 – 1250 K -> M. No effect on maturation of glycans, suggesting that trafficking to the plasma membrane is not altered.
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.