Variant position: 551 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 SKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLL
Gorilla SKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLL
Rhesus macaque SKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLL
Chimpanzee SKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLL
Mouse TKFAEQDNTVLGEGGVTLSG GQRARISLARAVYKDADLYLL
Rat TKFAEQDNTVLGEGGVTLSG GQRARISLARAVYKDADLYLL
Pig SKFAEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLL
Bovine SKFAEKDNVVLGEGGITLSG GQRARISLARAVYKDADLYLL
Rabbit SKFTEKDNTVLGEGGITLSG GQRARISLARAVYKDADLYLL
Sheep SKFSEKDNIVLGEGGITLSG GQRARISLARAVYKDADLYLL
Horse SKFAEKDNIVLGEGGIQLSG GQRARISLARAVYKDADLYLL
Xenopus laevis SKFPEKDNTVLGEGGITLSG GQRARISLARAVYKDADLYLL
Zebrafish AALPEKDKTPMAEGGLNLSG GQKARVALARAVYRDADLYLL
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
549 – 549 Phosphoserine
539 – 539 I -> T. Enhances trafficking from the endoplasmic reticulum to the cell membrane.
550 – 563
No reference for the current variant in UniProtKB/Swiss-Prot.
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