Variant position: 334 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 GFFVVFLSVLPYALIKGIIL RKIFTTISFCIVLRMAVTRQF
Gorilla GFFVVFLSVLPYALIKGIIL RKIFTTISFCIVLRMAVTRQF
Rhesus macaque GFFVVFLSVLPYALIKGIVL RKIFTTISFCIVLRMAVTRQF
Chimpanzee GFFVVFLSVLPYALIKGIIL RKIFTTISFCIVLRMAVTRQF
Mouse GFFVVFLSVLPYTVINGIVL RKIFTTISFCIVLRMSVTRQF
Rat GFFVVFLSVLPYTVINGIVL RKIFTTISFCIVLRMSVTRQF
Pig GLFVVFLSVLPYALLKGIML RKIFTTISFCIVLRMAVTRQF
Bovine GFFVVFLSVLPYALLKGIIL RKIFTTISFCIVLRMAVTRQF
Rabbit GFFVVFLSVLPYALTKGIIL RKIFTTISFCIVLRMAVTRQF
Sheep GFFVVFLSVLPYALLKGIIL RKIFTTISFCIVLRMAVTRQF
Horse GFFVVFLSVLPYALIKGIVL RRIFTTISFCIVLRMAVTRQF
Xenopus laevis GFFVVFLSIVPHLLLDGISL RKIFTTISFSIVLRMAVTRQF
Zebrafish AIFVIVAAVVPHALSRGINL RRIFTTLSYCMVLRMTVTRQL
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
320 – 339 Extracellular
81 – 365 ABC transmembrane type-1 1
Defective intracellular transport and processing of CFTR is the molecular basis of most cystic fibrosis.
Cheng S.H.; Gregory R.J.; Marshall J.; Paul S.; Souza D.W.; White G.A.; O'Riordan C.R.; Smith A.E.;
Cited for: CHARACTERIZATION OF VARIANT CF TRP-334; ILE-507 DEL; PHE-508 DEL; ASP-551 AND ILE-549; MUTAGENESIS OF LYS-464; PHE-508 AND LYS-1250; GLYCOSYLATION;
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