Sequence information
Variant position: 120 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:
LLLGRIIASYDPDNKEERSI
A IYLGIGLCLLFIVRTLLLHP
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 LLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHP
Gorilla LLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHP
Rhesus macaque LLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHP
Chimpanzee LLLGRIIASYDPDNKEERSIA IYLGIGLCLLFIVRTLLLHP
Mouse VLLGRIIASYDPENKVERSIA IYLGIGLCLLFIVRTLLLHP
Rat VLLGRIIASYDPDNTEERSIA IYLGIGLCLLFIVRTLLLHP
Pig LLLGRIIASYDPDNKAERSIA IYLGVGLCLLFIVRTLLLHP
Bovine LLLGRIIASYDPDNKVERSIA IYLGIGLCLLFIVRTLLLHP
Rabbit LLLGRIIASYDPDNKVERSIA IYLGIGLCLLFVVRTLLLHP
Sheep LLLGRIIASYDPDNKVERSIA IYLGIGLCLLFIVRTLLLHP
Horse LLLGRIIASYDPDNEAERSIA IYLGIGLCLLFIVRTLLLHP
Xenopus laevis LLLGRIIASYDRDNEHERSIA YYLAIGLCLLFVVRMLLLHP
Zebrafish QLLGRIIASFDPAHEPERANG YFLAFGLGLLFTARFLLLQP
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
Helix
120 – 164
Literature citations
Analysis of the CFTR gene in the Spanish population: SSCP-screening for 60 known mutations and identification of four new mutations (Q30X, A120T, 1812-1 G-->A, and 3667del4).
Chillon M.; Casals T.; Gimenez J.; Nunes V.; Estivill X.;
Hum. Mutat. 3:223-230(1994)
Cited for: VARIANT CF THR-120;
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.