Sequence information
Variant position: 206 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:
NNLNKFDEGLALAHFVWIAP
L QVALLMGLIWELLQASAFCG
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 NNLNKFDEGLALAHFVWIAPL QVALLMGLIWELLQASAFCG
Gorilla NNLNKFDEGLALAHFVWIAPL QVALLMGLIWELLQASAFCG
Rhesus macaque NNLNKFDEGLALAHFVWIVPL QVALLMGLIWELLQASAFCG
Chimpanzee NNLNKFDEGLALAHFVWIAPL QVALLMGLIWELLQASAFCG
Mouse NNLNKFDEGLALAHFIWIAPL QVTLLMGLLWDLLQFSAFCG
Rat NNLNKFDEGLALAHFIWIAPL QVVLLMGLLWDLLQFSAFCG
Pig NNLNKFDEGLALAHFVWIAPL QVTLLMGLLWELLQASAFCG
Bovine NNLNKFDEGLALAHFVWIAPL QVTLLMGLLWELLQAFTFCG
Rabbit NNLNKFDEGLALAHFVWISPL QVTLLMGLLWELLQASAFCG
Sheep NNLNKFDEGLALAHFVWIAPL QVTLLMGLLWDLLQAFTFCG
Horse NNLNKFDEGLALAHFVWIAPL QVTLLMGLLWDLLQASAFCG
Xenopus laevis NNLNKFDEGLALAHFVWIAPL QVLLLMGLLWDLLQASAFCG
Zebrafish ANLGKFDQSLGMAHFIWISPL QCILCTGLIWELIDVNSFCA
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
Four adult patients with the missense mutation L206W and a mild cystic fibrosis phenotype.
Desgeorges M.; Rodier M.; Piot M.; Demaille J.; Claustres M.;
Hum. Genet. 96:717-720(1995)
Cited for: VARIANT CF TRP-206;
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;
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.