Sequence information
Variant position: 549 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:
DISKFAEKDNIVLGEGGITL
S GGQRARISLARAVYKDADLY
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 DISKFAEKDNIVLGEGGITLS GGQRARISLARAVYKDADLY
Gorilla DISKFAEKDNIVLGEGGITLS GGQRARISLARAVYKDADLY
Rhesus macaque DISKFAEKDNIVLGEGGITLS GGQRARISLARAVYKDADLY
Chimpanzee DISKFAEKDNIVLGEGGITLS GGQRARISLARAVYKDADLY
Mouse DITKFAEQDNTVLGEGGVTLS GGQRARISLARAVYKDADLY
Rat DITKFAEQDNTVLGEGGVTLS GGQRARISLARAVYKDADLY
Pig DISKFAEKDNIVLGEGGITLS GGQRARISLARAVYKDADLY
Bovine DISKFAEKDNVVLGEGGITLS GGQRARISLARAVYKDADLY
Rabbit DISKFTEKDNTVLGEGGITLS GGQRARISLARAVYKDADLY
Sheep DISKFSEKDNIVLGEGGITLS GGQRARISLARAVYKDADLY
Horse DISKFAEKDNIVLGEGGIQLS GGQRARISLARAVYKDADLY
Xenopus laevis DISKFPEKDNTVLGEGGITLS GGQRARISLARAVYKDADLY
Zebrafish DLAALPEKDKTPMAEGGLNLS GGQKARVALARAVYRDADLY
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
Chain
1 – 1480
Cystic fibrosis transmembrane conductance regulator
Topological domain
359 – 858
Cytoplasmic
Domain
423 – 646
ABC transporter 1
Modified residue
549 – 549
Phosphoserine
Mutagenesis
539 – 539
I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
Literature citations
No reference for the current variant in UniProtKB/Swiss-Prot.
Disclaimer:
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.