Variant position: 193 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 DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVALLMG
Gorilla DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVALLMG
Rhesus macaque DKISIGQLVSLLSNNLNKFD EGLALAHFVWIVPLQVALLMG
Chimpanzee DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVALLMG
Mouse DKISIGQLVSLLSNNLNKFD EGLALAHFIWIAPLQVTLLMG
Rat DKISIGQLISLLSNNLNKFD EGLALAHFIWIAPLQVVLLMG
Pig DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVTLLMG
Bovine DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVTLLMG
Rabbit DKISIGQLISLLSNNLNKFD EGLALAHFVWISPLQVTLLMG
Sheep DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVTLLMG
Horse DKISIGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVTLLMG
Xenopus laevis DKISTGQLVSLLSNNLNKFD EGLALAHFVWIAPLQVLLLMG
Zebrafish DKISTGQLVSLMSANLGKFD QSLGMAHFIWISPLQCILCTG
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
147 – 195 Cytoplasmic
81 – 365 ABC transmembrane type-1 1
177 – 194
Is congenital bilateral absence of vas deferens a primary form of cystic fibrosis? Analyses of the CFTR gene in 67 patients.
Mercier B.; Verlingue C.; Lissens W.; Silber S.J.; Novelli G.; Bonduelle M.; Audrezet M.-P.; Ferec C.;
Am. J. Hum. Genet. 56:272-277(1995)
Cited for: VARIANTS CBAVD ARG-149; LYS-193; GLY-258 AND GLY-800;
Search for mutations in pancreatic sufficient cystic fibrosis Italian patients: detection of 90% of molecular defects and identification of three novel mutations.
Brancolini V.; Cremonesi L.; Belloni E.; Pappalardo E.; Bordoni R.; Seia M.; Russo S.; Padoan R.; Giunta A.; Ferrari M.;
Hum. Genet. 96:312-318(1995)
Cited for: VARIANTS CF GLY-57; LYS-193 AND GLY-579;
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.;
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;
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.