Variant position: 205 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 SNNLNKFDEGLALAHFVWIA PLQVALLMGLIWELLQASAFC
Gorilla SNNLNKFDEGLALAHFVWIA PLQVALLMGLIWELLQASAFC
Rhesus macaque SNNLNKFDEGLALAHFVWIV PLQVALLMGLIWELLQASAFC
Chimpanzee SNNLNKFDEGLALAHFVWIA PLQVALLMGLIWELLQASAFC
Mouse SNNLNKFDEGLALAHFIWIA PLQVTLLMGLLWDLLQFSAFC
Rat SNNLNKFDEGLALAHFIWIA PLQVVLLMGLLWDLLQFSAFC
Pig SNNLNKFDEGLALAHFVWIA PLQVTLLMGLLWELLQASAFC
Bovine SNNLNKFDEGLALAHFVWIA PLQVTLLMGLLWELLQAFTFC
Rabbit SNNLNKFDEGLALAHFVWIS PLQVTLLMGLLWELLQASAFC
Sheep SNNLNKFDEGLALAHFVWIA PLQVTLLMGLLWDLLQAFTFC
Horse SNNLNKFDEGLALAHFVWIA PLQVTLLMGLLWDLLQASAFC
Xenopus laevis SNNLNKFDEGLALAHFVWIA PLQVLLLMGLLWDLLQASAFC
Zebrafish SANLGKFDQSLGMAHFIWIS PLQCILCTGLIWELIDVNSFC
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
196 – 216 Helical; Name=3
81 – 365 ABC transmembrane type-1 1
200 – 218
Identification of a new missense mutation (P205S) in the first transmembrane domain of the CFTR gene associated with a mild cystic fibrosis phenotype.
Chillon M.; Casals T.; Nunes V.; Gimenez J.; Ruiz E.P.; Estivill X.;
Hum. Mol. Genet. 2:1741-1742(1993)
Cited for: VARIANT CF SER-205;
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