Sequence information
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:
GFFVVFLSVLPYALIKGIIL
R KIFTTISFCIVLRMAVTRQF
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 GFFVVFLSVLPYALIKGIILR KIFTTISFCIVLRMAVTRQF
Gorilla GFFVVFLSVLPYALIKGIILR KIFTTISFCIVLRMAVTRQF
Rhesus macaque GFFVVFLSVLPYALIKGIVLR KIFTTISFCIVLRMAVTRQF
Chimpanzee GFFVVFLSVLPYALIKGIILR KIFTTISFCIVLRMAVTRQF
Mouse GFFVVFLSVLPYTVINGIVLR KIFTTISFCIVLRMSVTRQF
Rat GFFVVFLSVLPYTVINGIVLR KIFTTISFCIVLRMSVTRQF
Pig GLFVVFLSVLPYALLKGIMLR KIFTTISFCIVLRMAVTRQF
Bovine GFFVVFLSVLPYALLKGIILR KIFTTISFCIVLRMAVTRQF
Rabbit GFFVVFLSVLPYALTKGIILR KIFTTISFCIVLRMAVTRQF
Sheep GFFVVFLSVLPYALLKGIILR KIFTTISFCIVLRMAVTRQF
Horse GFFVVFLSVLPYALIKGIVLR RIFTTISFCIVLRMAVTRQF
Xenopus laevis GFFVVFLSIVPHLLLDGISLR KIFTTISFSIVLRMAVTRQF
Zebrafish AIFVIVAAVVPHALSRGINLR RIFTTLSYCMVLRMTVTRQL
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
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.;
Cell 63:827-834(1990)
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;
Molecular characterization of cystic fibrosis: 16 novel mutations identified by analysis of the whole cystic fibrosis conductance transmembrane regulator (CFTR) coding regions and splice site junctions.
Fanen P.; Ghanem N.; Vidaud M.; Besmond C.; Martin J.; Costes B.; Plassa F.; Goossens M.;
Genomics 13:770-776(1992)
Cited for: VARIANTS VAL-44; MET-470; VAL-506; CYS-508; ALA-576; CYS-668; PHE-997; THR-1027 AND LEU-1162; VARIANTS CF GLY-44; ARG-178; ARG-225; TRP-334; PHE-508 DEL; 542-GLY--LEU-1480 DEL; ASP-551; ILE-562; ARG-628; 710-LYS--LEU-1480 DEL; 846-TRP--LEU-1480 DEL; CYS-913; 1063-TRP--LEU-1480 DEL; CYS-1066; 1092-TYR--LEU-1480 DEL; 1162-ARG--LEU-1480 DEL; GLU-1200; 1282-TRP--LEU-1480 DEL AND LYS-1303;
Detection of cystic fibrosis transmembrane conductance regulator (CFTR) gene rearrangements enriches the mutation spectrum in congenital bilateral absence of the vas deferens and impacts on genetic counselling.
Ratbi I.; Legendre M.; Niel F.; Martin J.; Soufir J.C.; Izard V.; Costes B.; Costa C.; Goossens M.; Girodon E.;
Hum. Reprod. 22:1285-1291(2007)
Cited for: VARIANTS GLN-75 AND MET-470; VARIANTS CBAVD TRP-74; HIS-110; HIS-117; HIS-170; TRP-206; ASP-232; TRP-334; TYR-443; PHE-508 DEL; VAL-556; ILE-562; ALA-576; ASP-622; CYS-668; GLY-938; ILE-952; VAL-959; PHE-977; PHE-997; CYS-1032; ARG-1069; HIS-1152; GLU-1153; ASN-1270; 1282-TRP--LEU-1480 DEL; HIS-1352 AND 1473-GLU--LEU-1480 DEL;
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.