Variant position: 1013 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 DFIQLLLIVIGAIAVVAVLQ PYIFVATVPVIVAFIMLRAYF
Gorilla DFIQLLLIVIGAIAVVAVLQ PYIFVATVPVIVAFIMLRAYF
Rhesus macaque DFIQLLLIVIGAIAVVAVLQ PYIFVATVPVIVAFIMLRAYF
Chimpanzee DFIQLLLIVIGAIAVVAVLQ PYIFVATVPVIVAFIMLRAYF
Mouse DFIQLVFIVIGAIIVVSALQ PYIFLATVPGLVVFILLRAYF
Rat DFIQLLFIVVGAIIVVSALQ PYIFLATVPGLAVFILLRAYF
Pig DFIQLLLIVIGAVAVVSVLK PYIFLATVPVIVAFILLRAYF
Bovine DFVQLLLIVIGAVVVVSVLQ PYIFLATVPVIAAFILLRAYF
Rabbit DFIQLLLIVVGAIAVVSVLQ PYIFLATVPVIAAFILLRAYF
Sheep DFIQLLLIVIGAVVVVSVLQ PYIFLATVPVIAAFILLRGYF
Horse DFIQLLLIVIGAVAVVSVLQ PYIFLATVPVIAAFIILRAYF
Xenopus laevis DLTQLVLIVIGAITVVSLLE PYIFLATVPVIVAFILLRSYF
Zebrafish DFVQLTVVVVGCILVVSIVR PYIFLAATPLAIIFIVMRKYF
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
1012 – 1013 Extracellular
859 – 1155 ABC transmembrane type-1 2
606 – 1480 Missing. In isoform 3.
Analysis of the CFTR gene in Turkish cystic fibrosis patients: identification of three novel mutations (3172delAC, P1013L and M1028I).
Onay T.; Topaloglu O.; Zielenski J.; Gokgoz N.; Kayserili H.; Camcioglu Y.; Cokugras H.; Akcakaya N.; Apak M.; Tsui L.-C.; Kirdar B.;
Hum. Genet. 102:224-230(1998)
Cited for: VARIANTS CF LEU-1013 AND ILE-1028;
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.