Entrez Gene

Basic Information
Gene ID	6389
Name	SDHA
Synonymous	succinate dehydrogenase complex, subunit A, flavoprotein (Fp);SDHA;succinate dehydrogenase complex, subunit A, flavoprotein (Fp)
Definition	flavoprotein subunit of complex II\|succinate dehydrogenase [ubiquinone] flavoprotein subunit, mitochondrial\|succinate dehydrogenase complex flavoprotein subunit
Position	5p15
Gene Type	protein-coding
Mutation summary:	Mutations in domains Mutational pattern in 17 major cancer types LoF vs missense mutations All the copy number variations from COSMIC database V72 All the mutations from COSMIC database V72

Mutation summary in protein domains

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Loss of Function mutations compare to missense mutations

Top

The ratio of the loss-of-function mutations over missense mutations is 0.13.

The copy number variations for various cancers

The copy number variations in 17 major cancer types: 1; Breast, 2; Central nervous system, 3; Cervix, 4; Endometrium, 5; Haematopoietic and lymphoid_tissue, 6; Kidney, 7; Large intestine, 8; Liver, 9; Lung, 10; Not specific, 11; Ovary, 12; Pancreas, 13; Prostate, 14; Skin, 15; Stomach, 16; Thyroid, 17; Urinary tract

Mutation (CDS; AA; Chr)	Site	Histology	Mutation Type
COSMIC somatic mutation [Top]
c.777C>T; p.Y259Y; 5:230882-230882	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1055G>A; p.R352Q; 5:233636-233636	kidney	carcinoma; renal_cell_carcinoma	Substitution - Missense
c.695G>A; p.R232H; 5:228258-228258	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1930G>A; p.V644M; 5:256355-256355	stomach	adenocarcinoma	Substitution - Missense
c.1967_1968CC>TT; p.T656I; 5:256392-256393	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1754G>A; p.R585Q; 5:251428-251428	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1226A>G; p.N409S; 5:235305-235305	stomach	adenocarcinoma	Substitution - Missense
c.1766G>A; p.R589Q; 5:251440-251440	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.985C>T; p.R329*; 5:233566-233566	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Nonsense
c.1886A>T; p.Y629F; 5:254484-254484	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.686G>A; p.G229E; 5:228249-228249	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.929G>A; p.G310E; 5:233510-233510	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.331C>T; p.L111L; 5:225437-225437	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.331C>T; p.L111L; 5:225437-225437	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - coding silent
c.1679C>G; p.T560R; 5:251353-251353	NS	malignant_melanoma	Substitution - Missense
c.743G>C; p.R248T; 5:228306-228306	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1564C>A; p.H522N; 5:251004-251004	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.968G>C; p.G323A; 5:233549-233549	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.352A>T; p.N118Y; 5:225458-225458	urinary_tract; bladder	carcinoma	Substitution - Missense
c.352A>T; p.N118Y; 5:225458-225458	urinary_tract; bladder	carcinoma; transitional_cell_carcinoma	Substitution - Missense
c.1772C>T; p.A591V; 5:251446-251446	ovary	other; neoplasm	Substitution - Missense
c.1192G>A; p.E398K; 5:235271-235271	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1744G>A; p.A582T; 5:251418-251418	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1969G>A; p.V657I; 5:256394-256394	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1969G>A; p.V657I; 5:256394-256394	adrenal_gland; adrenal_gland	pheochromocytoma	Substitution - Missense
c.163T>C; p.Y55H; 5:224372-224372	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.205G>A; p.A69T; 5:224414-224414	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.328G>T; p.A110S; 5:225434-225434	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1090G>A; p.V364I; 5:235169-235169	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1526C>T; p.S509L; 5:240451-240451	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1367C>T; p.S456L; 5:236534-236534	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.414C>T; p.A138A; 5:225520-225520	skin	malignant_melanoma	Substitution - coding silent
c.1482G>A; p.M494I; 5:240407-240407	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1371C>A; p.L457L; 5:236538-236538	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1371C>A; p.L457L; 5:236538-236538	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.991G>A; p.A331T; 5:233572-233572	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.262G>A; p.A88T; 5:224471-224471	kidney	carcinoma; papillary_renal_cell_carcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 5:251101-251101	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1661G>A; p.R554Q; 5:251101-251101	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1346C>T; p.A449V; 5:236513-236513	pancreas	carcinoma; ductal_carcinoma	Substitution - Missense
c.1346C>T; p.A449V; 5:236513-236513	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1440A>G; p.K480K; 5:240365-240365	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - coding silent
c.1346C>T; p.A449V; 5:236513-236513	pancreas	pancreatic_intraepithelial_neoplasia_(PanIN)	Substitution - Missense
c.1526C>G; p.S509W; 5:240451-240451	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1747G>C; p.E583Q; 5:251421-251421	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1951G>A; p.E651K; 5:256376-256376	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.429G>A; p.T143T; 5:225535-225535	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.372C>T; p.Y124Y; 5:225478-225478	liver	carcinoma	Substitution - coding silent
c.1591G>A; p.V531M; 5:251031-251031	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1520G>A; p.R507K; 5:240445-240445	upper_aerodigestive_tract; mouth	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.166C>T; p.P56S; 5:224375-224375	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.1171G>T; p.A391S; 5:235250-235250	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1396G>A; p.A466T; 5:236563-236563	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396G>A; p.A466T; 5:236563-236563	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396G>A; p.A466T; 5:236563-236563	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1396G>A; p.A466T; 5:236563-236563	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.157G>A; p.A53T; 5:224366-224366	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1966A>C; p.T656P; 5:256391-256391	lung	carcinoma; small_cell_carcinoma	Substitution - Missense
c.1414G>A; p.E472K; 5:236581-236581	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Missense
c.1930G>T; p.V644L; 5:256355-256355	lung; middle_lobe	carcinoma; adenocarcinoma	Substitution - Missense
c.1266G>C; p.L422L; 5:236433-236433	lung; right_lower_lobe	carcinoma; adenocarcinoma	Substitution - coding silent
c.1233C>T; p.G411G; 5:235312-235312	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1944_1945delTT; p.L649fs*4; 5:256369-256370	ovary	carcinoma; serous_carcinoma	Deletion - Frameshift
c.106A>G; p.T36A; 5:223524-223524	stomach	carcinoma; intestinal_adenocarcinoma	Substitution - Missense
c.1985_1993delGCTCCTACT; p.S663_665delSY; 5:256410-256418	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.562C>T; p.R188W; 5:225988-225988	skin	malignant_melanoma	Substitution - Missense
c.1985_1993delGCTCCTACT; p.S663_665delSY; 5:256410-256418	liver	carcinoma; hepatocellular_carcinoma	Deletion - In frame
c.428C>T; p.T143M; 5:225534-225534	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.367T>A; p.F123I; 5:225473-225473	large_intestine; rectum	carcinoma; adenocarcinoma	Substitution - Missense
c.1415A>C; p.E472A; 5:236582-236582	liver	carcinoma	Substitution - Missense
c.1415A>C; p.E472A; 5:236582-236582	liver	carcinoma	Substitution - Missense
c.777C>A; p.Y259*; 5:230882-230882	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Nonsense
c.1461C>T; p.N487N; 5:240386-240386	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1778C>T; p.A593V; 5:251452-251452	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.1680G>A; p.T560T; 5:251354-251354	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1145G>A; p.G382D; 5:235224-235224	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1013C>T; p.A338V; 5:233594-233594	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.585G>T; p.R195R; 5:226011-226011	ovary	carcinoma; serous_carcinoma	Substitution - coding silent
c.1974G>C; p.P658P; 5:256399-256399	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1974G>C; p.P658P; 5:256399-256399	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.569G>A; p.C190Y; 5:225995-225995	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.748A>G; p.K250E; 5:228311-228311	bone; humerus	chondrosarcoma	Substitution - Missense
c.465T>G; p.N155K; 5:225891-225891	skin	malignant_melanoma	Substitution - Missense
c.596C>A; p.S199*; 5:226022-226022	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - Nonsense
c.429_430GG>AA; p.E144K; 5:225535-225536	skin; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1399T>C; p.C467R; 5:236566-236566	kidney	other; neoplasm	Substitution - Missense
c.1216G>A; p.V406M; 5:235295-235295	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.451G>T; p.V151F; 5:225557-225557	pancreas	carcinoma	Substitution - Missense
c.1135C>T; p.R379C; 5:235214-235214	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1274T>G; p.V425G; 5:236441-236441	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1274T>G; p.V425G; 5:236441-236441	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1274T>G; p.V425G; 5:236441-236441	upper_aerodigestive_tract; head_neck	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1089C>T; p.H363H; 5:235168-235168	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1656C>T; p.F552F; 5:251096-251096	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1212C>T; p.P404P; 5:235291-235291	skin	malignant_melanoma	Substitution - coding silent
c.223C>T; p.R75*; 5:224432-224432	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.515C>T; p.A172V; 5:225941-225941	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.309A>G; p.A103A; 5:224518-224518	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.1076C>A; p.P359H; 5:235155-235155	large_intestine	carcinoma; adenocarcinoma	Substitution - Missense
c.1038C>G; p.S346S; 5:233619-233619	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.550G>A; p.G184R; 5:225976-225976	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - Missense
c.870A>C; p.L290L; 5:230975-230975	lung	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.684T>C; p.N228N; 5:228247-228247	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.528G>C; p.Q176H; 5:225954-225954	lung	carcinoma; squamous_cell_carcinoma	Substitution - Missense
c.1352G>A; p.R451H; 5:236519-236519	breast	carcinoma	Substitution - Missense
c.1320G>A; p.E440E; 5:236487-236487	urinary_tract; bladder	carcinoma	Substitution - coding silent
c.1935C>A; p.I645I; 5:256360-256360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1320G>A; p.E440E; 5:236487-236487	cervix	carcinoma; squamous_cell_carcinoma	Substitution - coding silent
c.1014G>A; p.A338A; 5:233595-233595	oesophagus	carcinoma	Substitution - coding silent
c.656A>G; p.Y219C; 5:228219-228219	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.40C>G; p.R14G; 5:218395-218395	oesophagus	carcinoma; adenocarcinoma	Substitution - Missense
c.167C>A; p.P56Q; 5:224376-224376	skin	malignant_melanoma	Substitution - Missense
c.1A>G; p.M1V; 5:218356-218356	central_nervous_system; brain	glioma	Substitution - Missense
c.376A>C; p.T126P; 5:225482-225482	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1A>G; p.M1V; 5:218356-218356	central_nervous_system; brain	glioma	Substitution - Missense
c.1A>G; p.M1V; 5:218356-218356	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.813C>T; p.T271T; 5:230918-230918	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.973A>G; p.R325G; 5:233554-233554	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1564C>T; p.H522Y; 5:251004-251004	skin	malignant_melanoma	Substitution - Missense
c.512G>A; p.R171H; 5:225938-225938	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Missense
c.1636C>T; p.L546L; 5:251076-251076	skin	malignant_melanoma	Substitution - coding silent
c.1740C>G; p.Y580*; 5:251414-251414	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - Nonsense
c.1636C>T; p.L546L; 5:251076-251076	skin	malignant_melanoma	Substitution - coding silent
c.372C>A; p.Y124*; 5:225478-225478	autonomic_ganglia	neuroblastoma	Substitution - Nonsense
c.622T>C; p.S208P; 5:228185-228185	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1771G>A; p.A591T; 5:251445-251445	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.706G>A; p.A236T; 5:228269-228269	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.A236T; 5:228269-228269	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.706G>A; p.A236T; 5:228269-228269	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1176C>T; p.G392G; 5:235255-235255	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.908C>T; p.A303V; 5:233489-233489	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.1467G>T; p.G489G; 5:240392-240392	lung	carcinoma; adenocarcinoma	Substitution - coding silent
c.779G>T; p.G260V; 5:230884-230884	large_intestine; caecum	carcinoma; adenocarcinoma	Substitution - Missense
c.263C>G; p.A88G; 5:224472-224472	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.477G>A; p.P159P; 5:225903-225903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.477G>A; p.P159P; 5:225903-225903	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1435G>A; p.D479N; 5:240360-240360	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.933T>C; p.C311C; 5:233514-233514	oesophagus; lower_third	carcinoma; adenocarcinoma	Substitution - coding silent
c.264A>G; p.A88A; 5:224473-224473	pancreas	carcinoma	Substitution - coding silent
c.1911C>G; p.V637V; 5:256336-256336	haematopoietic_and_lymphoid_tissue	haematopoietic_neoplasm; acute_myeloid_leukaemia	Substitution - coding silent
c.1204G>C; p.V402L; 5:235283-235283	urinary_tract; bladder	carcinoma	Substitution - Missense
c.1750G>A; p.A584T; 5:251424-251424	endometrium	carcinoma; endometrioid_carcinoma	Substitution - Missense
c.969C>T; p.G323G; 5:233550-233550	large_intestine; colon	carcinoma; adenocarcinoma	Substitution - coding silent
c.718G>C; p.E240Q; 5:228281-228281	lung	carcinoma; adenocarcinoma	Substitution - Missense
c.718G>C; p.E240Q; 5:228281-228281	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.703A>T; p.I235F; 5:228266-228266	kidney	carcinoma; clear_cell_renal_cell_carcinoma	Substitution - Missense
c.718G>C; p.E240Q; 5:228281-228281	prostate	carcinoma	Substitution - Missense
c.703A>T; p.I235F; 5:228266-228266	prostate	carcinoma; adenocarcinoma	Substitution - Missense
c.1915C>G; p.L639V; 5:256340-256340	pancreas	carcinoma	Substitution - Missense
c.1915C>G; p.L639V; 5:256340-256340	stomach	adenocarcinoma	Substitution - Missense
c.1521A>G; p.R507R; 5:240446-240446	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1188G>A; p.T396T; 5:235267-235267	endometrium	carcinoma; endometrioid_carcinoma	Substitution - coding silent
c.1422A>G; p.S474S; 5:236589-236589	liver	carcinoma	Substitution - coding silent
c.1660C>T; p.R554W; 5:251100-251100	stomach	carcinoma; adenocarcinoma	Substitution - Missense
c.1422A>G; p.S474S; 5:236589-236589	liver	carcinoma	Substitution - coding silent
c.136A>G; p.K46E; 5:223554-223554	bone	Ewings_sarcoma-peripheral_primitive_neuroectodermal_tumour	Substitution - Missense
c.891T>C; p.P297P; 5:230996-230996	thyroid	other; neoplasm	Substitution - coding silent
c.1335G>A; p.S445S; 5:236502-236502	stomach	carcinoma; adenocarcinoma	Substitution - coding silent
c.1335G>A; p.S445S; 5:236502-236502	breast	carcinoma	Substitution - coding silent

Mutation summary in protein domains

Top

The non-synonymous (top) and synonymous (bottom) mutational percentage for various cancers

Top

Loss of Function mutations compare to missense mutations

Top

The copy number variations for various cancers

Top

COSMIC somatic mutation [Top]