Sequence information
Variant position: 146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 794 The length of the canonical sequence.
Location on the sequence:
GVTQRDLNVKAAWAQGYTGH
G IVVSILDDGIEKNHPDLAGN
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 GVTQRDLNVKAAWAQGYTGHG IVVSILDDGIEKNHPDLAGN
Mouse GVTQRDLNVKEAWAQGFTGHG IVVSILDDGIEKNHPDLAGN
Rat GVTQRDLNVKEAWAQGFTGRG IVVSILDDGIEKNHPDLAGN
Bovine GVTQRDLNVKEAWAQGYTGRG IVVSILDDGIEKNHPDLAGN
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
108 – 794
Furin
Topological domain
108 – 715
Lumenal
Domain
121 – 435
Peptidase S8
Active site
153 – 153
Charge relay system
Metal binding
162 – 162
Calcium 1
Binding site
154 – 154
Substrate
Mutagenesis
153 – 153
D -> N. Loss of catalytic activity and propeptide first cleavage. Abnormal accumulation in the early secretory pathway.
Literature citations
COVID-19 and Genetic Variants of Protein Involved in the SARS-CoV-2 Entry into the Host Cells.
Latini A.; Agolini E.; Novelli A.; Borgiani P.; Giannini R.; Gravina P.; Smarrazzo A.; Dauri M.; Andreoni M.; Rogliani P.; Bernardini S.; Helmer-Citterich M.; Biancolella M.; Novelli G.;
Genes (Basel) 11:0-0(2020)
Cited for: VARIANTS VAL-43; SER-146; GLN-298 AND VAL-636;
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.