Sequence information
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:
SNNLNKFDEGLALAHFVWIA
P LQVALLMGLIWELLQASAFC
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 SNNLNKFDEGLALAHFVWIAP LQVALLMGLIWELLQASAFC
Gorilla SNNLNKFDEGLALAHFVWIAP LQVALLMGLIWELLQASAFC
Rhesus macaque SNNLNKFDEGLALAHFVWIVP LQVALLMGLIWELLQASAFC
Chimpanzee SNNLNKFDEGLALAHFVWIAP LQVALLMGLIWELLQASAFC
Mouse SNNLNKFDEGLALAHFIWIAP LQVTLLMGLLWDLLQFSAFC
Rat SNNLNKFDEGLALAHFIWIAP LQVVLLMGLLWDLLQFSAFC
Pig SNNLNKFDEGLALAHFVWIAP LQVTLLMGLLWELLQASAFC
Bovine SNNLNKFDEGLALAHFVWIAP LQVTLLMGLLWELLQAFTFC
Rabbit SNNLNKFDEGLALAHFVWISP LQVTLLMGLLWELLQASAFC
Sheep SNNLNKFDEGLALAHFVWIAP LQVTLLMGLLWDLLQAFTFC
Horse SNNLNKFDEGLALAHFVWIAP LQVTLLMGLLWDLLQASAFC
Xenopus laevis SNNLNKFDEGLALAHFVWIAP LQVLLLMGLLWDLLQASAFC
Zebrafish SANLGKFDQSLGMAHFIWISP LQCILCTGLIWELIDVNSFC
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
Chain
1 – 1480
Cystic fibrosis transmembrane conductance regulator
Transmembrane
196 – 216
Helical; Name=3
Domain
81 – 365
ABC transmembrane type-1 1
Helix
200 – 216
Literature citations
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;
Disclaimer:
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.