Sequence information
Variant position: 338 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:
VFLSVLPYALIKGIILRKIF
T TISFCIVLRMAVTRQFPWAV
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 VFLSVLPYALIKGIILRKIFT TISFCIVLRMAVTRQFPWAV
Gorilla VFLSVLPYALIKGIILRKIFT TISFCIVLRMAVTRQFPWAV
Rhesus macaque VFLSVLPYALIKGIVLRKIFT TISFCIVLRMAVTRQFPWAV
Chimpanzee VFLSVLPYALIKGIILRKIFT TISFCIVLRMAVTRQFPWAV
Mouse VFLSVLPYTVINGIVLRKIFT TISFCIVLRMSVTRQFPTAV
Rat VFLSVLPYTVINGIVLRKIFT TISFCIVLRMSVTRQFPTAV
Pig VFLSVLPYALLKGIMLRKIFT TISFCIVLRMAVTRQFPWAV
Bovine VFLSVLPYALLKGIILRKIFT TISFCIVLRMAVTRQFPWAV
Rabbit VFLSVLPYALTKGIILRKIFT TISFCIVLRMAVTRQFPWAV
Sheep VFLSVLPYALLKGIILRKIFT TISFCIVLRMAVTRQFPWAV
Horse VFLSVLPYALIKGIVLRRIFT TISFCIVLRMAVTRQFPWAV
Xenopus laevis VFLSIVPHLLLDGISLRKIFT TISFSIVLRMAVTRQFPWAV
Zebrafish IVAAVVPHALSRGINLRRIFT TLSYCMVLRMTVTRQLPGSI
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
Topological domain
320 – 339
Extracellular
Domain
81 – 365
ABC transmembrane type-1 1
Helix
333 – 351
Literature citations
A specific cystic fibrosis mutation (T338I) associated with the phenotype of isolated hypotonic dehydration.
Leoni G.B.; Pitzalis S.; Podda R.; Zanda M.; Silvetti M.; Caocci L.; Cao A.; Rosatelli M.C.;
J. Pediatr. 127:281-283(1995)
Cited for: VARIANT CF ILE-338;
Identification of a novel mutation (S13F) in the CFTR gene in a CF patient of Sardinian origin.
Leoni G.B.; Pitzalis S.; Tonelli R.; Cao A.;
Hum. Mutat. 11:337-337(1998)
Cited for: VARIANTS CF PHE-13 AND ILE-338;
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.