Variant position: 87 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 PKLINALRRCFFWRFMFYGI FLYLGEVTKAVQPLLLGRIIA
Gorilla PKLINALRRCFFWRFMFYGI FLYLGEVTKAVQPLLLGRIIA
Rhesus macaque PKLINALRRCFFWRFMFYGI LLYLGEVTKAVQPLLLGRIIA
Chimpanzee PKLINALRRCFFWRFMFYGI FLYLGEVTKAVQPLLLGRIIA
Mouse PQLIHALRRCFFWRFLFYGI LLYLGEVTKAVQPVLLGRIIA
Rat PQLIHALRRCFVWRFVFYGV LLYLGEVTKAVQPVLLGRIIA
Pig PKLINALRRCFFWRFMFYGI ILYLGEVTKAVQPLLLGRIIA
Bovine PKLINALRRCFFWRFMFYGI ILYLGEVTKAVQPLLLGRIIA
Rabbit PKLINALRRCFFWRFMFYGI LLYLGEVTKAVQPLLLGRIIA
Sheep PKLINALRRCFFWRFMFYGI ILYLGEVTKAVQPLLLGRIIA
Horse PKLINALRRCFFWRFMFYGI ILYLGEVTKAVQPLLLGRIIA
Xenopus laevis PKLINALKRCFFWKFLFYGI LLYLGEVTKAVQPLLLGRIIA
Zebrafish PSLLRAMARCYIKPFLLFGF LLYIGEATKTVQPQLLGRIIA
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
78 – 98 Helical; Name=1
81 – 365 ABC transmembrane type-1 1
69 – 96
A missense mutation (F87L) in exon 3 of the cystic fibrosis transmembrane conductance regulator gene.
Bienvenu T.; Petitpretz P.; Beldjord C.; Kaplan J.C.;
Hum. Mutat. 3:395-396(1994)
Cited for: VARIANT CF LEU-87;
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