Sequence information
Variant position: 117 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:
VQPLLLGRIIASYDPDNKEE
R SIAIYLGIGLCLLFIVRTLL
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 VQPLLLGRIIASYDPDNKEER SIAIYLGIGLCLLFIVRTLL
Gorilla VQPLLLGRIIASYDPDNKEER SIAIYLGIGLCLLFIVRTLL
Rhesus macaque VQPLLLGRIIASYDPDNKEER SIAIYLGIGLCLLFIVRTLL
Chimpanzee VQPLLLGRIIASYDPDNKEER SIAIYLGIGLCLLFIVRTLL
Mouse VQPVLLGRIIASYDPENKVER SIAIYLGIGLCLLFIVRTLL
Rat VQPVLLGRIIASYDPDNTEER SIAIYLGIGLCLLFIVRTLL
Pig VQPLLLGRIIASYDPDNKAER SIAIYLGVGLCLLFIVRTLL
Bovine VQPLLLGRIIASYDPDNKVER SIAIYLGIGLCLLFIVRTLL
Rabbit VQPLLLGRIIASYDPDNKVER SIAIYLGIGLCLLFVVRTLL
Sheep VQPLLLGRIIASYDPDNKVER SIAIYLGIGLCLLFIVRTLL
Horse VQPLLLGRIIASYDPDNEAER SIAIYLGIGLCLLFIVRTLL
Xenopus laevis VQPLLLGRIIASYDRDNEHER SIAYYLAIGLCLLFVVRMLL
Zebrafish VQPQLLGRIIASFDPAHEPER ANGYFLAFGLGLLFTARFLL
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
99 – 122
Extracellular
Domain
81 – 365
ABC transmembrane type-1 1
Literature citations
Cystic fibrosis mutation frequencies in upstate New York.
Shrimpton A.E.; Borowitz D.; Swender P.;
Hum. Mutat. 10:436-442(1997)
Cited for: VARIANTS CF GLU-85; HIS-117; TYR-287; GLU-455; ASP-551; PRO-1070 AND LYS-1303;
Aberrant CFTR-dependent HCO3- transport in mutations associated with cystic fibrosis.
Choi J.Y.; Muallem D.; Kiselyov K.; Lee M.G.; Thomas P.J.; Muallem S.;
Nature 410:94-97(2001)
Cited for: CHARACTERIZATION OF VARIANTS CF HIS-117; THR-148; ARG-178; LYS-193; ASP-551; SER-551; GLN-620; VAL-648; GLY-800; TYR-949; THR-1067; GLN-1070; GLU-1244; PRO-1255 AND ASP-1349;
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;
On the mechanism of gating defects caused by the R117H mutation in cystic fibrosis transmembrane conductance regulator.
Yu Y.C.; Sohma Y.; Hwang T.C.;
J. Physiol. (Lond.) 594:3227-3244(2016)
Cited for: CHARACTERIZATION OF VARIANT CF HIS-117; FUNCTION; SUBCELLULAR LOCATION;
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.