Variant position: 149 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 LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Gorilla LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Rhesus macaque LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Chimpanzee LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Mouse LLFIVRTLLLHPAIFGLHRI GMQMRTAMFSLIYKKTLKLSS
Rat LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Pig LLFIVRTLLLHPAIFGPHHI GMQMRIAMFSLIYKKTLKLSS
Bovine LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Rabbit LLFVVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Sheep LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Horse LLFIVRTLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Xenopus laevis LLFVVRMLLLHPAIFGLHHI GMQMRIAMFSLIYKKTLKLSS
Zebrafish LLFTARFLLLQPAMFGLHHL GMQIRIALFSIIYKKTLKLSS
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
147 – 195 Cytoplasmic
81 – 365 ABC transmembrane type-1 1
116 – 165
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800;
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.