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:
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 VFLSVLPYALIKGIILRKIF TTISFCIVLRMAVTRQFPWAV
Gorilla VFLSVLPYALIKGIILRKIF TTISFCIVLRMAVTRQFPWAV
Rhesus macaque VFLSVLPYALIKGIVLRKIF TTISFCIVLRMAVTRQFPWAV
Chimpanzee VFLSVLPYALIKGIILRKIF TTISFCIVLRMAVTRQFPWAV
Mouse VFLSVLPYTVINGIVLRKIF TTISFCIVLRMSVTRQFPTAV
Rat VFLSVLPYTVINGIVLRKIF TTISFCIVLRMSVTRQFPTAV
Pig VFLSVLPYALLKGIMLRKIF TTISFCIVLRMAVTRQFPWAV
Bovine VFLSVLPYALLKGIILRKIF TTISFCIVLRMAVTRQFPWAV
Rabbit VFLSVLPYALTKGIILRKIF TTISFCIVLRMAVTRQFPWAV
Sheep VFLSVLPYALLKGIILRKIF TTISFCIVLRMAVTRQFPWAV
Horse VFLSVLPYALIKGIVLRRIF TTISFCIVLRMAVTRQFPWAV
Xenopus laevis VFLSIVPHLLLDGISLRKIF TTISFSIVLRMAVTRQFPWAV
Zebrafish IVAAVVPHALSRGINLRRIF TTLSYCMVLRMTVTRQLPGSI
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
333 – 351
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;
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.