UniProtKB/Swiss-Prot P09958: Variant p.Gly146Ser

Furin
Gene: FURIN
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Variant information Variant position:

146 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Glycine (G) to Serine (S) at position 146 (G146S, p.Gly146Ser). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from glycine (G) to small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page

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                         GVTQRDLNVKAAWAQGYTGHGIVVSILDDGIEKNHPDLAGN

Mouse                         GVTQRDLNVKEAWAQGFTGHGIVVSILDDGIEKNHPDLAGN

Rat                           GVTQRDLNVKEAWAQGFTGRGIVVSILDDGIEKNHPDLAGN

Bovine                        GVTQRDLNVKEAWAQGYTGRGIVVSILDDGIEKNHPDLAGN

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
Binding site	154 – 154
Binding site	162 – 162
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.