Sequence information
Variant position: 109 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:
YLGEVTKAVQPLLLGRIIAS
Y DPDNKEERSIAIYLGIGLCL
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 YLGEVTKAVQPLLLGRIIASY DPDNKEERSIAIYLGIGLCL
Gorilla YLGEVTKAVQPLLLGRIIASY DPDNKEERSIAIYLGIGLCL
Rhesus macaque YLGEVTKAVQPLLLGRIIASY DPDNKEERSIAIYLGIGLCL
Chimpanzee YLGEVTKAVQPLLLGRIIASY DPDNKEERSIAIYLGIGLCL
Mouse YLGEVTKAVQPVLLGRIIASY DPENKVERSIAIYLGIGLCL
Rat YLGEVTKAVQPVLLGRIIASY DPDNTEERSIAIYLGIGLCL
Pig YLGEVTKAVQPLLLGRIIASY DPDNKAERSIAIYLGVGLCL
Bovine YLGEVTKAVQPLLLGRIIASY DPDNKVERSIAIYLGIGLCL
Rabbit YLGEVTKAVQPLLLGRIIASY DPDNKVERSIAIYLGIGLCL
Sheep YLGEVTKAVQPLLLGRIIASY DPDNKVERSIAIYLGIGLCL
Horse YLGEVTKAVQPLLLGRIIASY DPDNEAERSIAIYLGIGLCL
Xenopus laevis YLGEVTKAVQPLLLGRIIASY DRDNEHERSIAYYLAIGLCL
Zebrafish YIGEATKTVQPQLLGRIIASF DPAHEPERANGYFLAFGLGL
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
A novel cystic fibrosis mutation, Y109C, in the first transmembrane domain of CFTR.
Schaedel C.; Kristoffersson A.-C.; Kornfaelt R.; Holmberg L.;
Hum. Mol. Genet. 3:1001-1002(1994)
Cited for: VARIANT CF CYS-109;
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.