Sequence information
Variant position: 346 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:
ALIKGIILRKIFTTISFCIV
L RMAVTRQFPWAVQTWYDSLG
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 ALIKGIILRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Gorilla ALIKGIILRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Rhesus macaque ALIKGIVLRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Chimpanzee ALIKGIILRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Mouse TVINGIVLRKIFTTISFCIVL RMSVTRQFPTAVQIWYDSFG
Rat TVINGIVLRKIFTTISFCIVL RMSVTRQFPTAVQIWYDSLG
Pig ALLKGIMLRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Bovine ALLKGIILRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Rabbit ALTKGIILRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Sheep ALLKGIILRKIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Horse ALIKGIVLRRIFTTISFCIVL RMAVTRQFPWAVQTWYDSLG
Xenopus laevis LLLDGISLRKIFTTISFSIVL RMAVTRQFPWAVQTWYDSLG
Zebrafish ALSRGINLRRIFTTLSYCMVL RMTVTRQLPGSIQMWYDTMR
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
340 – 358
Helical; Name=6
Domain
81 – 365
ABC transmembrane type-1 1
Helix
333 – 351
Literature citations
Novel cystic fibrosis mutation associated with mild disease in Cypriot patients.
Boteva K.; Papageorgiou E.; Georgiou C.; Angastiniotis M.; Middleton L.T.; Constantinou-Deltas C.D.;
Hum. Genet. 93:529-532(1994)
Cited for: VARIANT CF PRO-346;
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.