Variant position: 111 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 GEVTKAVQPLLLGRIIASYD PDNKEERSIAIYLGIGLCLLF
Gorilla GEVTKAVQPLLLGRIIASYD PDNKEERSIAIYLGIGLCLLF
Rhesus macaque GEVTKAVQPLLLGRIIASYD PDNKEERSIAIYLGIGLCLLF
Chimpanzee GEVTKAVQPLLLGRIIASYD PDNKEERSIAIYLGIGLCLLF
Mouse GEVTKAVQPVLLGRIIASYD PENKVERSIAIYLGIGLCLLF
Rat GEVTKAVQPVLLGRIIASYD PDNTEERSIAIYLGIGLCLLF
Pig GEVTKAVQPLLLGRIIASYD PDNKAERSIAIYLGVGLCLLF
Bovine GEVTKAVQPLLLGRIIASYD PDNKVERSIAIYLGIGLCLLF
Rabbit GEVTKAVQPLLLGRIIASYD PDNKVERSIAIYLGIGLCLLF
Sheep GEVTKAVQPLLLGRIIASYD PDNKVERSIAIYLGIGLCLLF
Horse GEVTKAVQPLLLGRIIASYD PDNEAERSIAIYLGIGLCLLF
Xenopus laevis GEVTKAVQPLLLGRIIASYD RDNEHERSIAYYLAIGLCLLF
Zebrafish GEATKTVQPQLLGRIIASFD PAHEPERANGYFLAFGLGLLF
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
99 – 122 Extracellular
81 – 365 ABC transmembrane type-1 1
Genetic findings in congenital bilateral aplasia of vas deferens patients and identification of six novel mutations.
de Meeus A.; Guittard C.; Desgeorges M.; Carles S.; Demaille J.; Claustres M.;
Cited for: VARIANTS CBAVD LEU-111; LYS-244; VAL-544 AND VAL-1364;
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