Variant position: 109 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 YLGEVTKAVQPLLLGRIIAS YDPDNKEERSIAIYLGIGLCL
Gorilla YLGEVTKAVQPLLLGRIIAS YDPDNKEERSIAIYLGIGLCL
Rhesus macaque YLGEVTKAVQPLLLGRIIAS YDPDNKEERSIAIYLGIGLCL
Chimpanzee YLGEVTKAVQPLLLGRIIAS YDPDNKEERSIAIYLGIGLCL
Mouse YLGEVTKAVQPVLLGRIIAS YDPENKVERSIAIYLGIGLCL
Rat YLGEVTKAVQPVLLGRIIAS YDPDNTEERSIAIYLGIGLCL
Pig YLGEVTKAVQPLLLGRIIAS YDPDNKAERSIAIYLGVGLCL
Bovine YLGEVTKAVQPLLLGRIIAS YDPDNKVERSIAIYLGIGLCL
Rabbit YLGEVTKAVQPLLLGRIIAS YDPDNKVERSIAIYLGIGLCL
Sheep YLGEVTKAVQPLLLGRIIAS YDPDNKVERSIAIYLGIGLCL
Horse YLGEVTKAVQPLLLGRIIAS YDPDNEAERSIAIYLGIGLCL
Xenopus laevis YLGEVTKAVQPLLLGRIIAS YDRDNEHERSIAYYLAIGLCL
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
104 – 117 Extracellular
81 – 365 ABC transmembrane type-1 1
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
Schaedel C.; Kristoffersson A.-C.; Kornfaelt R.; Holmberg L.;
Hum. Mol. Genet. 3:1001-1002(1994)
Cited for: VARIANT CF CYS-109;
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