Variant position: 572 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 QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Gorilla QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Rhesus macaque QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Chimpanzee QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Mouse QRARISLARAVYKDADLYLL DSPFGYLDVFTEEQVFESCVC
Rat QRARISLARAVYKDADLYLL DSPFGYLDVLTEEQIFESCVC
Pig QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Bovine QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCIC
Rabbit QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Sheep QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Horse QRARISLARAVYKDADLYLL DSPFGYLDVLTEKEIFESCVC
Xenopus laevis QRARISLARAVYKDADLYLL DSPFSYLDLFTEKEIFESCVC
Zebrafish QKARVALARAVYRDADLYLL DAPFTHLDIATEKEIFDKCLC
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
567 – 573
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;
Complete screening of mutations in the coding sequence of the CFTR gene in a sample of CF patients from Russia: identification of three novel alleles.
Verlingue C.; Kapranov N.I.; Mercier B.; Ginter E.K.; Petrova N.V.; Audrezet M.P.; Ferec C.;
Hum. Mutat. 5:205-209(1995)
Cited for: VARIANT CF ASN-572;
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.