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:
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 LLLGRIIASYDPDNKEERSI AIYLGIGLCLLFIVRTLLLHP
Gorilla LLLGRIIASYDPDNKEERSI AIYLGIGLCLLFIVRTLLLHP
Rhesus macaque LLLGRIIASYDPDNKEERSI AIYLGIGLCLLFIVRTLLLHP
Chimpanzee LLLGRIIASYDPDNKEERSI AIYLGIGLCLLFIVRTLLLHP
Mouse VLLGRIIASYDPENKVERSI AIYLGIGLCLLFIVRTLLLHP
Rat VLLGRIIASYDPDNTEERSI AIYLGIGLCLLFIVRTLLLHP
Pig LLLGRIIASYDPDNKAERSI AIYLGVGLCLLFIVRTLLLHP
Bovine LLLGRIIASYDPDNKVERSI AIYLGIGLCLLFIVRTLLLHP
Rabbit LLLGRIIASYDPDNKVERSI AIYLGIGLCLLFVVRTLLLHP
Sheep LLLGRIIASYDPDNKVERSI AIYLGIGLCLLFIVRTLLLHP
Horse LLLGRIIASYDPDNEAERSI AIYLGIGLCLLFIVRTLLLHP
Xenopus laevis LLLGRIIASYDRDNEHERSI AYYLAIGLCLLFVVRMLLLHP
Zebrafish QLLGRIIASFDPAHEPERAN GYFLAFGLGLLFTARFLLLQP
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
99 – 122 Extracellular
81 – 365 ABC transmembrane type-1 1
116 – 165
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;
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