Variant position: 613 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 KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Gorilla KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Rhesus macaque KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Chimpanzee KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Mouse KLMANKTRILVTSKMEHLRK ADKILILHQGSSYFYGTFSEL
Rat KLMASKTRILVTSKMEQLKK ADKILILHEGSSYFYGTFSEL
Pig KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Bovine KLMANKTRILVTSKMEHLKK ADKILILHEGSIYFYGTFSEL
Rabbit KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Sheep KLMANKTRILVTSKMEHLKK ADKILILHEGSVYFYGTFSEL
Horse KLMANKTRILVTSKMEHLKK ADKILILHEGSSYFYGTFSEL
Xenopus laevis KLMANKTRILVTSKVEQLKK ADKVLILHEGSCYFYGTFSEL
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
606 – 1480 Missing. In isoform 3.
Characterization of 19 disease-associated missense mutations in the regulatory domain of the cystic fibrosis transmembrane conductance regulator.
Vankeerberghen A.; Wei L.; Jaspers M.; Cassiman J.-J.; Nilius B.; Cuppens H.;
Hum. Mol. Genet. 7:1761-1769(1998)
Cited for: CHARACTERIZATION OF VARIANTS CF PHE-601; SER-610; THR-613; GLY-614; THR-618; SER-619; GLN-620; PRO-620; ARG-628; PRO-633 AND SER-665; CHARACTERIZATION OF VARIANT OLIGOSPERMIA ASP-622; CHARACTERIZATION OF VARIANTS CBAVD GLY-792 AND GLY-800; CHARACTERIZATION OF VARIANT THORACIC SARCOIDOSIS LYS-828;
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.