| Gene ID | 5444 |
| Symbol | PON1 |
| Synonymous | ESA|MVCD5|PON |
| Full name | paraoxonase 1 |
| Gene description | A-esterase 1|K-45|PON 1|aromatic esterase 1|arylesterase 1|arylesterase B-type|esterase A|paraoxonase B-type|serum aryldiakylphosphatase|serum aryldialkylphosphatase 1|serum paraoxonase/arylesterase 1 |
| Cytoband | 7q21.3 |
| Gene type | protein-coding |
| Synonymous | MIM:168820; HGNC:HGNC:9204; HPRD:01351 |
Mutation (CDS; AA; Chr) | Site | Histology | Mutation Type |
|---|---|---|---|
c.801C>T; p.L267L; 7:95302313-95302313 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - coding silent |
c.347G>T; p.G116V; 7:95315345-95315345 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.560T>C; p.L187P; 7:95308149-95308149 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.1042C>T; p.H348Y; 7:95298970-95298970 |
skin | malignant_melanoma | Substitution - Missense |
c.489_491delTCT; p.L164delL; 7:95311457-95311459 |
large_intestine; colon | carcinoma; adenocarcinoma | Deletion - In frame |
c.235C>T; p.P79S; 7:95315457-95315457 |
skin | malignant_melanoma | Substitution - Missense |
c.109G>A; p.V37I; 7:95318359-95318359 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.109G>A; p.V37I; 7:95318359-95318359 |
pancreas | NS | Substitution - Missense |
c.805G>A; p.D269N; 7:95302309-95302309 |
skin | malignant_melanoma | Substitution - Missense |
c.181G>A; p.G61R; 7:95316754-95316754 |
skin | malignant_melanoma | Substitution - Missense |
c.181G>A; p.G61R; 7:95316754-95316754 |
skin | malignant_melanoma | Substitution - Missense |
c.931C>T; p.L311L; 7:95299081-95299081 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.715G>C; p.E239Q; 7:95306350-95306350 |
urinary_tract; bladder | carcinoma | Substitution - Missense |
c.1019A>T; p.K340I; 7:95298993-95298993 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.868A>G; p.K290E; 7:95302246-95302246 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.488T>G; p.L163R; 7:95311460-95311460 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.380T>G; p.M127R; 7:95311568-95311568 |
pancreas | carcinoma; adenocarcinoma | Substitution - Missense |
c.123C>G; p.N41K; 7:95318345-95318345 |
ovary | other; neoplasm | Substitution - Missense |
c.950T>C; p.V317A; 7:95299062-95299062 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.838C>A; p.L280I; 7:95302276-95302276 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.821A>T; p.D274V; 7:95302293-95302293 |
breast | carcinoma | Substitution - Missense |
c.793A>G; p.N265D; 7:95302321-95302321 |
liver | carcinoma | Substitution - Missense |
c.1030G>A; p.G344S; 7:95298982-95298982 |
lung | carcinoma; small_cell_carcinoma | Substitution - Missense |
c.187G>A; p.A63T; 7:95316748-95316748 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.686C>T; p.S229L; 7:95308023-95308023 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.571T>C; p.L191L; 7:95308138-95308138 |
oesophagus | carcinoma; adenocarcinoma | Substitution - coding silent |
c.5C>T; p.A2V; 7:95324471-95324471 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.367G>A; p.E123K; 7:95315325-95315325 |
skin | malignant_melanoma | Substitution - Missense |
c.736C>T; p.H246Y; 7:95306329-95306329 |
breast | carcinoma | Substitution - Missense |
c.112G>T; p.E38*; 7:95318356-95318356 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Nonsense |
c.112G>T; p.E38*; 7:95318356-95318356 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.203G>A; p.G68E; 7:95315489-95315489 |
skin | malignant_melanoma | Substitution - Missense |
c.203G>A; p.G68E; 7:95315489-95315489 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.6G>A; p.A2A; 7:95324470-95324470 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - coding silent |
c.436T>G; p.F146V; 7:95311512-95311512 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.146-1G>T; p.?; 7:95316790-95316790 |
large_intestine; colon | carcinoma; adenocarcinoma | Unknown |
c.1051_1052CT>TC; p.L351S; 7:95298960-95298961 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.311G>A; p.G104E; 7:95315381-95315381 |
soft_tissue; blood_vessel | angiosarcoma | Substitution - Missense |
c.25C>T; p.L9F; 7:95324451-95324451 |
skin | malignant_melanoma | Substitution - Missense |
c.79C>T; p.R27*; 7:95318389-95318389 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.79C>T; p.R27*; 7:95318389-95318389 |
central_nervous_system; brain | glioma | Substitution - Nonsense |
c.731A>C; p.K244T; 7:95306334-95306334 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.274G>A; p.E92K; 7:95315418-95315418 |
skin | malignant_melanoma | Substitution - Missense |
c.79C>T; p.R27*; 7:95318389-95318389 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.871A>C; p.I291L; 7:95302243-95302243 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.455C>T; p.S152L; 7:95311493-95311493 |
skin | malignant_melanoma | Substitution - Missense |
c.31G>T; p.G11W; 7:95324445-95324445 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.497+4C>T; p.?; 7:95311447-95311447 |
adrenal_gland; adrenal_gland | adrenal_cortical_carcinoma; functioning | Unknown |
c.494C>T; p.P165L; 7:95311454-95311454 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.760T>C; p.W254R; 7:95306305-95306305 |
stomach | carcinoma; intestinal_adenocarcinoma | Substitution - Missense |
c.689C>A; p.P230H; 7:95308020-95308020 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.676A>T; p.I226F; 7:95308033-95308033 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.342T>G; p.P114P; 7:95315350-95315350 |
stomach | carcinoma; adenocarcinoma | Substitution - coding silent |
c.694G>A; p.G232S; 7:95308015-95308015 |
skin | malignant_melanoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.917G>A; p.R306Q; 7:95299095-95299095 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.421G>C; p.V141L; 7:95311527-95311527 |
upper_aerodigestive_tract; mouth | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.475A>G; p.I159V; 7:95311473-95311473 |
oesophagus; lower_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.260T>A; p.L87Q; 7:95315432-95315432 |
skin | malignant_melanoma | Substitution - Missense |
c.640C>T; p.R214*; 7:95308069-95308069 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.14T>C; p.I5T; 7:95324462-95324462 |
skin | malignant_melanoma | Substitution - Missense |
c.746A>G; p.E249G; 7:95306319-95306319 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.428T>C; p.L143S; 7:95311520-95311520 |
lung | carcinoma; adenocarcinoma | Substitution - Missense |
c.892A>T; p.N298Y; 7:95302222-95302222 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.892A>T; p.N298Y; 7:95302222-95302222 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - Missense |
c.761G>A; p.W254*; 7:95306304-95306304 |
skin | malignant_melanoma | Substitution - Nonsense |
c.477C>A; p.I159I; 7:95311471-95311471 |
central_nervous_system; brain | glioma | Substitution - coding silent |
c.659T>C; p.F220S; 7:95308050-95308050 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.332C>A; p.S111*; 7:95315360-95315360 |
breast | carcinoma | Substitution - Nonsense |
c.873C>T; p.I291I; 7:95302241-95302241 |
skin | malignant_melanoma | Substitution - coding silent |
c.573A>T; p.L191F; 7:95308136-95308136 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.824C>T; p.P275L; 7:95302290-95302290 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.579C>T; p.S193S; 7:95308130-95308130 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.43G>A; p.A15T; 7:95324433-95324433 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.802G>A; p.V268M; 7:95302312-95302312 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.802G>A; p.V268M; 7:95302312-95302312 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.783C>T; p.S261S; 7:95302331-95302331 |
skin | malignant_melanoma | Substitution - coding silent |
c.691G>A; p.D231N; 7:95308018-95308018 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - Missense |
c.724G>A; p.A242T; 7:95306341-95306341 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.691G>A; p.D231N; 7:95308018-95308018 |
large_intestine; rectum | carcinoma; adenocarcinoma | Substitution - Missense |
c.870A>C; p.K290N; 7:95302244-95302244 |
large_intestine; caecum | carcinoma; adenocarcinoma | Substitution - Missense |
c.780+7C>T; p.?; 7:95306278-95306278 |
pancreas | carcinoma | Unknown |
c.597T>A; p.G199G; 7:95308112-95308112 |
central_nervous_system; brain | glioma; astrocytoma_Grade_IV | Substitution - coding silent |
c.839T>A; p.L280H; 7:95302275-95302275 |
lung | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.608C>T; p.S203L; 7:95308101-95308101 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 7:95308134-95308134 |
stomach | carcinoma; adenocarcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 7:95308134-95308134 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.575A>G; p.Q192R; 7:95308134-95308134 |
prostate | carcinoma; adenocarcinoma | Substitution - Missense |
c.18G>A; p.A6A; 7:95324458-95324458 |
autonomic_ganglia | neuroblastoma | Substitution - coding silent |
c.773C>T; p.P258L; 7:95306292-95306292 |
skin | malignant_melanoma | Substitution - Missense |
c.377C>T; p.A126V; 7:95311571-95311571 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.916C>T; p.R306*; 7:95299096-95299096 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Nonsense |
c.650C>A; p.A217E; 7:95308059-95308059 |
oesophagus; middle_third | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.916C>T; p.R306*; 7:95299096-95299096 |
skin | malignant_melanoma | Substitution - Nonsense |
c.891G>T; p.E297D; 7:95302223-95302223 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.452A>C; p.K151T; 7:95311496-95311496 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.743A>G; p.Y248C; 7:95306322-95306322 |
breast | carcinoma | Substitution - Missense |
c.140G>A; p.G47E; 7:95318328-95318328 |
skin | malignant_melanoma | Substitution - Missense |
c.456G>A; p.S152S; 7:95311492-95311492 |
large_intestine; colon | carcinoma; adenocarcinoma | Substitution - coding silent |
c.1051C>G; p.L351V; 7:95298961-95298961 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - Missense |
c.165G>A; p.L55L; 7:95316770-95316770 |
skin; head_neck | carcinoma; squamous_cell_carcinoma | Substitution - coding silent |
c.1010A>G; p.Y337C; 7:95299002-95299002 |
endometrium | carcinoma; endometrioid_carcinoma | Substitution - Missense |
c.977_978delCA; p.T326fs*28; 7:95299034-95299035 |
lung | carcinoma; adenocarcinoma | Deletion - Frameshift |
c.591delT; p.L198fs*3; 7:95308118-95308118 |
autonomic_ganglia | neuroblastoma | Deletion - Frameshift |
c.110T>C; p.V37A; 7:95318358-95318358 |
large_intestine | carcinoma; adenocarcinoma | Substitution - Missense |
c.985C>T; p.Q329*; 7:95299027-95299027 |
lung; right_upper_lobe | carcinoma; adenocarcinoma | Substitution - Nonsense |
c.560T>G; p.L187R; 7:95308149-95308149 |
oesophagus | carcinoma; adenocarcinoma | Substitution - Missense |
c.560T>G; p.L187R; 7:95308149-95308149 |
pancreas | carcinoma; ductal_carcinoma | Substitution - Missense |
c.474C>T; p.T158T; 7:95311474-95311474 |
skin | malignant_melanoma | Substitution - coding silent |
c.560T>G; p.L187R; 7:95308149-95308149 |
pancreas | carcinoma | Substitution - Missense |