Variant position: 1349 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 EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLSKAKILLL
Gorilla EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLSKAKILLL
Rhesus macaque EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLSKAKILLL
Chimpanzee EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLSKAKILLL
Mouse EQFPGQLNFTLVDGGYVLSH GHKQLMCLARSVLSKAKIILL
Rat EQFPGQLNFTLVDGGYVLSH GHKQLMCLARSVLSKAKIILL
Pig EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLGKAKILLL
Bovine EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLSKAKILLL
Rabbit EQFPGKLDFVLVDGGYVLSH GHKQLMCLARSVLSKAKILLL
Sheep EQFPGKLDFVLVDGGCVLSH GHKQLMCLARSVLSKAKILLL
Horse EQFPGKLDFVLVDGGNVLSH GHKQLICLARSVLSKAKILLL
Xenopus laevis DQFPGQLDFVLLDGGCVLSH GHKQLVCLARSVLSKAKILLL
Zebrafish EQFPDKLDFQLEYGGYVLSN GHKQLICLARSILSGARILLL
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.
Maturation and function of cystic fibrosis transmembrane conductance regulator variants bearing mutations in putative nucleotide-binding domains 1 and 2.
Gregory R.J.; Rich D.P.; Cheng S.H.; Souza D.W.; Paul S.; Manavalan P.; Anderson M.P.; Welsh M.J.; Smith A.E.;
Mol. Cell. Biol. 11:3886-3893(1991)
Cited for: CHARACTERIZATION OF CF VARIANTS ILE-507 DEL; PHE-508 DEL; ILE-549; ARG-549; ASP-551; THR-559; ASN-572; LYS-1303 AND ASP-1349; FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF PHE-508;
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.