| Gene ID | 6647 |
| Symbol | SOD1 |
| Synonymous | ALS|ALS1|HEL-S-44|IPOA|SOD|hSod1|homodimer |
| Full name | superoxide dismutase 1, soluble |
| Gene description | Cu/Zn superoxide dismutase|SOD, soluble|epididymis secretory protein Li 44|indophenoloxidase A|superoxide dismutase [Cu-Zn]|superoxide dismutase, cystolic |
| Cytoband | 21q22.11 |
| Gene type | protein-coding |
| Synonymous | MIM:147450; HGNC:HGNC:11179; Ensembl:ENSG00000142168; HPRD:00937; Vega:OTTHUMG00000084878 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.357+6T>A; p.?; 21:31667381-31667381 |
kidney | other; neoplasm | Unknown |
c.1A>G; p.M1V; 21:31659770-31659770 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.138C>T; p.F46F; 21:31663855-31663855 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.256G>T; p.G86C; 21:31667274-31667274 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.446T>C; p.V149A; 21:31668559-31668559 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.181G>C; p.A61P; 21:31666460-31666460 |
ovary | carcinoma; serous_carcinoma | Substitution - Missense |
c.331C>A; p.H111N; 21:31667349-31667349 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.425G>C; p.G142A; 21:31668538-31668538 |
liver | carcinoma | Substitution - Missense |
c.323C>G; p.S108*; 21:31667341-31667341 |
urinary_tract; bladder | carcinoma | Substitution - Nonsense |
c.443G>A; p.G148D; 21:31668556-31668556 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.331C>T; p.H111Y; 21:31667349-31667349 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.268G>A; p.A90T; 21:31667286-31667286 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.315C>G; p.I105M; 21:31667333-31667333 |
breast | carcinoma | Substitution - Missense |
c.339C>T; p.I113I; 21:31667357-31667357 |
urinary_tract; bladder | carcinoma | Substitution - coding silent |
c.339C>T; p.I113I; 21:31667357-31667357 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.139C>T; p.H47Y; 21:31663856-31663856 |
skin | malignant_melanoma | Substitution - Missense |
c.139C>T; p.H47Y; 21:31663856-31663856 |
NS | malignant_melanoma | Substitution - Missense |
c.124G>T; p.G42C; 21:31663841-31663841 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Missense |
c.2T>C; p.M1T; 21:31659771-31659771 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.66G>C; p.E22D; 21:31659835-31659835 |
haematopoietic_and_lymphoid_tissue; central_nervous_system | lymphoid_neoplasm; primary_central_nervous_system_lymphoma | Substitution - Missense |
c.145C>G; p.H49D; 21:31663862-31663862 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.239+1G>T; p.?; 21:31666519-31666519 |
haematopoietic_and_lymphoid_tissue | lymphoid_neoplasm; chronic_lymphocytic_leukaemia-small_lymphocytic_lymphoma | Unknown |
c.213A>G; p.K71K; 21:31666492-31666492 |
kidney | carcinoma; clear_cell_renal_cell_carcinoma | Substitution - coding silent |
c.255G>A; p.L85L; 21:31667273-31667273 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |