Variant position: 754 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 RRLSLVPDSEQGEAILPRIS VISTGPTLQARRRQSVLNLMT
Gorilla RRLSLVPDSEQGEAILPRIS VISTGPTLQARRRQSVLNLMT
Rhesus macaque RRLSLVPDSEQGEVILPRIS VISTGPTLQARRRQSVLNLMT
Chimpanzee RRLSLVPDSEQGEAILPRIS VISTGPTLQARRRQSVLNLMT
Mouse KRLSLVPDSEQGEAALPRSN MIATGPTFPGRRRQSVLDLMT
Rat RRLSLVPDSEHGEAALPRSN MITAGPTFPGRRRQSVLDLMT
Pig RRLSLVPDSEHGEAILPRSN VINAGPTFQGRRRQSVLNLMT
Bovine RRLSLVPHSEPGEGILPRSN AVNSGPTFLGGRRQSVLNLMT
Rabbit RRLSLVPDSEQGEAILPRSN MINTGPMLQGCRRQSVLNLMT
Sheep RRLSLVPHSEPGEGILPRSN AVNSGPTFLGGRRQSVLNLMT
Horse RRLSLVPDSEQGEAILPRSN VINTGPTFQRRRRQSVLNLMT
Xenopus laevis RKLSLVPESEQGEASLPRSN FLNTGPTFQGRRRQSVLNLMT
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
654 – 831 Intrinsically disordered R region
737 – 737 Phosphoserine; by PKA
753 – 753 Phosphoserine; by PKA
768 – 768 Phosphoserine; by PKA
606 – 1480 Missing. In isoform 3.
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.