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:
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 QLVSLLSNNLNKFDEGLALA HFVWIAPLQVALLMGLIWELL
Gorilla QLVSLLSNNLNKFDEGLALA HFVWIAPLQVALLMGLIWELL
Rhesus macaque QLVSLLSNNLNKFDEGLALA HFVWIVPLQVALLMGLIWELL
Chimpanzee QLVSLLSNNLNKFDEGLALA HFVWIAPLQVALLMGLIWELL
Mouse QLVSLLSNNLNKFDEGLALA HFIWIAPLQVTLLMGLLWDLL
Rat QLISLLSNNLNKFDEGLALA HFIWIAPLQVVLLMGLLWDLL
Pig QLVSLLSNNLNKFDEGLALA HFVWIAPLQVTLLMGLLWELL
Bovine QLVSLLSNNLNKFDEGLALA HFVWIAPLQVTLLMGLLWELL
Rabbit QLISLLSNNLNKFDEGLALA HFVWISPLQVTLLMGLLWELL
Sheep QLVSLLSNNLNKFDEGLALA HFVWIAPLQVTLLMGLLWDLL
Horse QLVSLLSNNLNKFDEGLALA HFVWIAPLQVTLLMGLLWDLL
Xenopus laevis QLVSLLSNNLNKFDEGLALA HFVWIAPLQVLLLMGLLWDLL
Zebrafish QLVSLMSANLGKFDQSLGMA HFIWISPLQCILCTGLIWELI
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
196 – 216 Helical; Name=3
81 – 365 ABC transmembrane type-1 1
195 – 199
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;
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.