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:
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 ALIKGIILRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Gorilla ALIKGIILRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Rhesus macaque ALIKGIVLRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Chimpanzee ALIKGIILRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Mouse TVINGIVLRKIFTTISFCIV LRMSVTRQFPTAVQIWYDSFG
Rat TVINGIVLRKIFTTISFCIV LRMSVTRQFPTAVQIWYDSLG
Pig ALLKGIMLRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Bovine ALLKGIILRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Rabbit ALTKGIILRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Sheep ALLKGIILRKIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Horse ALIKGIVLRRIFTTISFCIV LRMAVTRQFPWAVQTWYDSLG
Xenopus laevis LLLDGISLRKIFTTISFSIV LRMAVTRQFPWAVQTWYDSLG
Zebrafish ALSRGINLRRIFTTLSYCMV LRMTVTRQLPGSIQMWYDTMR
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
340 – 358 Helical; Name=6
81 – 365 ABC transmembrane type-1 1
333 – 351
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;
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.