Sequence information
Variant position: 199 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:
QLVSLLSNNLNKFDEGLALA
H FVWIAPLQVALLMGLIWELL
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 QLVSLLSNNLNKFDEGLALAH FVWIAPLQVALLMGLIWELL
Gorilla QLVSLLSNNLNKFDEGLALAH FVWIAPLQVALLMGLIWELL
Rhesus macaque QLVSLLSNNLNKFDEGLALAH FVWIVPLQVALLMGLIWELL
Chimpanzee QLVSLLSNNLNKFDEGLALAH FVWIAPLQVALLMGLIWELL
Mouse QLVSLLSNNLNKFDEGLALAH FIWIAPLQVTLLMGLLWDLL
Rat QLISLLSNNLNKFDEGLALAH FIWIAPLQVVLLMGLLWDLL
Pig QLVSLLSNNLNKFDEGLALAH FVWIAPLQVTLLMGLLWELL
Bovine QLVSLLSNNLNKFDEGLALAH FVWIAPLQVTLLMGLLWELL
Rabbit QLISLLSNNLNKFDEGLALAH FVWISPLQVTLLMGLLWELL
Sheep QLVSLLSNNLNKFDEGLALAH FVWIAPLQVTLLMGLLWDLL
Horse QLVSLLSNNLNKFDEGLALAH FVWIAPLQVTLLMGLLWDLL
Xenopus laevis QLVSLLSNNLNKFDEGLALAH FVWIAPLQVLLLMGLLWDLL
Zebrafish QLVSLMSANLGKFDQSLGMAH FIWISPLQCILCTGLIWELI
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
Transmembrane
196 – 216
Helical; Name=3
Domain
81 – 365
ABC transmembrane type-1 1
Literature citations
Detection of more than 50 different CFTR mutations in a large group of German cystic fibrosis patients.
Doerk T.; Mekus F.; Schmidt K.; Bosshammer J.; Fislage R.; Heuer T.; Dziadek V.; Neumann T.; Kaelin N.; Wulbrand U.; Wulf B.; von der Hardt H.; Maass G.; Tuemmler B.;
Hum. Genet. 94:533-542(1994)
Cited for: VARIANTS CF TYR-199; SER-619; ARG-1005 AND ARG-1291;
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.