Variant position: 98 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 FWRFMFYGIFLYLGEVTKAV QPLLLGRIIASYDPDNKEERS
Gorilla FWRFMFYGIFLYLGEVTKAV QPLLLGRIIASYDPDNKEERS
Rhesus macaque FWRFMFYGILLYLGEVTKAV QPLLLGRIIASYDPDNKEERS
Chimpanzee FWRFMFYGIFLYLGEVTKAV QPLLLGRIIASYDPDNKEERS
Mouse FWRFLFYGILLYLGEVTKAV QPVLLGRIIASYDPENKVERS
Rat VWRFVFYGVLLYLGEVTKAV QPVLLGRIIASYDPDNTEERS
Pig FWRFMFYGIILYLGEVTKAV QPLLLGRIIASYDPDNKAERS
Bovine FWRFMFYGIILYLGEVTKAV QPLLLGRIIASYDPDNKVERS
Rabbit FWRFMFYGILLYLGEVTKAV QPLLLGRIIASYDPDNKVERS
Sheep FWRFMFYGIILYLGEVTKAV QPLLLGRIIASYDPDNKVERS
Horse FWRFMFYGIILYLGEVTKAV QPLLLGRIIASYDPDNEAERS
Xenopus laevis FWKFLFYGILLYLGEVTKAV QPLLLGRIIASYDRDNEHERS
Zebrafish IKPFLLFGFLLYIGEATKTV QPQLLGRIIASFDPAHEPERA
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
98 – 107
Novel missense mutation in the first transmembrane segment of the CFTR gene (Q98R) identified in a male adult.
Romey M.-C.; Desgeorges M.; Ray P.; Godard P.; Demaille J.; Claustres M.;
Hum. Mutat. 6:190-191(1995)
Cited for: VARIANT CF ARG-98;
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