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Literature summary for 3.1.21.1 extracted from

  • Yasuda, T.; Ueki, M.; Takeshita, H.; Fujihara, J.; Kimura-Kataoka, K.; Iida, R.; Tsubota, E.; Soejima, M.; Koda, Y.; Kato, H.; Panduro, A.
    A biochemical and genetic study on all non-synonymous single nucleotide polymorphisms of the gene encoding human deoxyribonuclease I potentially relevant to autoimmunity (2010), Int. J. Biochem. Cell Biol., 42, 1216-1225.
    View publication on PubMed
Search for more literature for 3.1.21.1

Cloned(Commentary)

Cloned (Comment) Organism
transient expression in COS-7 cell Homo sapiens

Protein Variants

Protein Variants Comment Organism
A224del relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.69, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.52 Homo sapiens
A224P also naturally occuring mutation, ID number (NCBI database): rs8176939, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.23, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.36 Homo sapiens
C209Y also naturally occuring mutation, ID number (NCBI database): rs8176939, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.24, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.23 Homo sapiens
E13D also naturally occuring mutation, ID number (NCBI database): rs34907394, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 1.35, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 1.0 Homo sapiens
G105A relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 1.05, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.68 Homo sapiens
G105K relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 3.27, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.64 Homo sapiens
G105R also naturally occuring mutation, ID number (NCBI database): rs176919, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 3.22, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.63 Homo sapiens
G240D also naturally occuring mutation, ID number (NCBI database): rs8176924, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 1.46, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.56 Homo sapiens
K18Term termination codon at triplet 18, also naturally occuring mutation, no activity detected Homo sapiens
L186L also naturally occuring mutation, ID number (NCBI database): rs8176920, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.8, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 1.0 Homo sapiens
P132A also naturally occuring mutation, ID number (NCBI database): rs1799891, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 2.10, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.93 Homo sapiens
P197A also naturally occuring mutation, ID number (NCBI database): rs34186031 Homo sapiens
P197S also naturally occuring mutation, ID number (NCBI database): rs34186031, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 2.03, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.75 Homo sapiens
Q222E relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.26, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 1.0 Homo sapiens
Q222K relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.71, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 1.0 Homo sapiens
Q222L relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.17, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.81 Homo sapiens
Q222R also naturally occuring mutation, ID number (NCBI database): rs1053874, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.48, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 1.2 Homo sapiens
Q35A relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.39, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.55 Homo sapiens
Q35E relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.79, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.53 Homo sapiens
Q35H also naturally occuring mutation, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.60, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.60 Homo sapiens
Q38H naturally occuring mutation, ID number (NCBI database): rs4554238 Homo sapiens
Q9E also naturally occuring mutation, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) about 0.35 Homo sapiens
R185C naturally occuring mutation Homo sapiens
R21S also naturally occuring mutation, ID number (NCBI database): rs8176927, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 1.75, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.96 Homo sapiens
R85A no activity detected Homo sapiens
R85G also naturally occuring mutation, ID number (NCBI database): rs8176928, no activity detected Homo sapiens
R85K relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.87, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.56 Homo sapiens
V82M also naturally occuring mutation Homo sapiens
V89A relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.21, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.53 Homo sapiens
V89L relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.55, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.33 Homo sapiens
V89M also naturally occuring mutation, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 0.24, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.20 Homo sapiens
V92M also naturally occuring mutation, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) about 1.0 Homo sapiens
Y95S also naturally occuring mutation, ID number (NCBI database): rs34923865, relative activity secreted from transiently transfected COS-7 cells assayed by the single radial enzyme diffusion method (wild type activity = 1.0) 1.32, relative thermal stability (activity measured after incubation of the cells for 20 min at 50°C) 0.67 Homo sapiens

Organism

Organism UniProt Comment Textmining
Homo sapiens P24855
-
-

Source Tissue

Source Tissue Comment Organism Textmining

Synonyms

Synonyms Comment Organism
deoxyribonuclease I
-
 Homo sapiens
DNase I
-
 Homo sapiens