AiPD: Autoinhibited Protein Database

P07195

Gene name	LDHB
Protein name	L-lactate dehydrogenase B chain
Names	LDH-B, LDH heart subunit, LDH-H, Renal carcinoma antigen NY-REN-46
Species	Homo sapiens (Human)
KEGG Pathway	hsa:3945
EC number	1.1.1.27: With NAD(+) or NADP(+) as acceptor
Protein Class

Descriptions

The autoinhibited protein was predicted that may have potential autoinhibitory elements via cis-regPred.

Autoinhibitory domains (AIDs)

1-49 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-49 (Predicted disordered autoinhibitory region)

Target domain

Relief mechanism

Assay

cis-regPred

Accessory elements

No accessory elements

References

Yeon JH et al. (2016) "Systems-wide Identification of cis-Regulatory Elements in Proteins", Cell Systems, 2, 89-100

Autoinhibited structure

Activated structure

5 structures for P07195

Entry ID	Method	Resolution	Chain	Position	Source
1I0Z	X-ray	210 A	A/B	2-334	PDB
1T2F	X-ray	300 A	A/B/C/D	2-332	PDB
7DBJ	X-ray	155 A	A/B/C/D	2-334	PDB
7DBK	X-ray	180 A	A/B/C/D/E/F/G/H	2-334	PDB
AF-P07195-F1	Predicted				AlphaFoldDB

256 variants for P07195

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
RCV000015665 VAR_004173 rs118203897 CA124118	7	K>E	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency LDHBD; slightly decreased activity [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt TOPMed dbSNP gnomAD
VAR_004174	35	A>E	LDHBD [UniProt]	Yes	UniProt
RCV001112253 rs1938543300	60	K>E	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinVar dbSNP
VAR_011634	69	G>E	LDHBD [UniProt]	Yes	UniProt
rs1938542112 RCV001112252	70	S>R	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinVar dbSNP
VAR_011635 CA6480503 rs777954556	107	R>W	LDHBD; inactive [UniProt]	Yes	ClinGen UniProt ExAC dbSNP gnomAD
RCV000015664 CA124116 rs118203896 VAR_004175	129	S>R	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency LDHBD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
RCV000366792 rs532712842 CA6480466	158	R>C	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ExAC TOPMed dbSNP gnomAD
VAR_004176	171	F>V	LDHBD [UniProt]	Yes	UniProt
VAR_004177 CA124114 rs118203895 RCV000015663	172	R>H	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency LDHBD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
VAR_011636	172	R>P	LDHBD [UniProt]	Yes	UniProt
VAR_004178	175	M>L	LDHBD [UniProt]	Yes	UniProt
RCV001111785 CA6480456 VAR_049758 rs7966339	175	M>V	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
VAR_011637	223	N>del	LDHBD [UniProt]	Yes	UniProt
RCV000404219 CA6480378 rs369382991	240	Y>C	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP gnomAD
CA6480377 RCV000360135 rs750220072	243	I>V	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
RCV000303242 CA6480375 RCV003165834 rs144739734	250	N>S	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency Inborn genetic diseases [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
CA6480372 rs145355418 RCV001109489	256	S>N	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
RCV001109488 rs775184475 CA6480370	261	I>T	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar ExAC TOPMed dbSNP gnomAD
CA6480363 rs200158121 RCV001109487	276	T>A	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC TOPMed dbSNP gnomAD
RCV001115120 CA6480344 rs150060988	281	M>I	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar ESP ExAC dbSNP
rs1565623986 RCV000778364 CA384298753	316	Q>*	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_004179	322	D>V	LDHBD [UniProt]	Yes	UniProt
rs267607212 CA124120 VAR_011638 RCV000015666	325	W>R	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency LDHBD [ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt Ensembl dbSNP
TCGA novel	1	M>?	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384295667 rs1308268823	2	A>E		No	ClinGen gnomAD
CA6480587 rs745576644	3	T>A		No	ClinGen ExAC gnomAD
rs1184696761 CA384295657	4	L>P		No	ClinGen gnomAD
CA384295654 rs1480609859	5	K>E		No	ClinGen TOPMed gnomAD
CA384295652 rs1369234249	5	K>T		No	ClinGen gnomAD
rs1441154808 CA384295647	6	E>K		No	ClinGen TOPMed gnomAD
CA6480585 rs200724789	8	L>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA6480584 rs753092491	8	L>P		No	ClinGen ExAC gnomAD
rs779501801 CA6480583	9	I>S		No	ClinGen ExAC gnomAD
CA384295625 rs779501801	9	I>T		No	ClinGen ExAC gnomAD
rs753931794 CA384295601	13	A>E		No	ClinGen ExAC TOPMed gnomAD
rs753931794 CA6480581	13	A>G		No	ClinGen ExAC TOPMed gnomAD
rs753931794 CA6480582	13	A>V		No	ClinGen ExAC TOPMed gnomAD
CA384295587 rs1180184041	15	E>V		No	ClinGen TOPMed
rs760880532 CA6480579	16	E>*		No	ClinGen ExAC gnomAD
rs750649581 CA6480578	17	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs982376014 CA234085211	18	T>R		No	ClinGen TOPMed
CA6480577 rs545499454	20	P>A		No	ClinGen 1000Genomes ExAC gnomAD
rs969989239 CA234085209	20	P>L		No	ClinGen TOPMed gnomAD
CA384295556 rs1219394608	21	N>D		No	ClinGen TOPMed gnomAD
rs1219394608 CA384295557	21	N>Y		No	ClinGen TOPMed gnomAD
rs761690770 CA6480576	22	N>D		No	ClinGen ExAC gnomAD
CA384295546 rs1303341477	22	N>S		No	ClinGen gnomAD
rs1023739031 CA234085208	24	I>M		No	ClinGen TOPMed gnomAD
CA6480575 rs774116069	25	T>A		No	ClinGen ExAC TOPMed gnomAD
CA384295525 rs1292923822	25	T>S		No	ClinGen gnomAD
rs374033725 CA6480574	26	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs775129425 CA6480572	30	G>A		No	ClinGen ExAC gnomAD
CA384295483 rs1395756826	32	V>D		No	ClinGen TOPMed
rs201820178 CA234085207	34	M>V		No	ClinGen gnomAD
CA384295451 rs1407995253	37	A>T		No	ClinGen TOPMed
rs781010848 CA6480569	38	I>S		No	ClinGen ExAC gnomAD
rs745456688 CA6480570	38	I>V		No	ClinGen ExAC TOPMed gnomAD
rs772281258 CA6480568	40	I>T		No	ClinGen ExAC gnomAD
CA6480565 rs755495370	42	G>*		No	ClinGen ExAC gnomAD
CA234084287 rs996104914	44	S>T		No	ClinGen TOPMed
rs184328547 CA6480541	46	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6480540 rs751798230	47	D>E		No	ClinGen ExAC gnomAD
rs763885650 CA6480539	49	L>P		No	ClinGen ExAC gnomAD
rs758147413 CA6480538	50	A>V		No	ClinGen ExAC
CA6480537 rs752638212	51	L>F		No	ClinGen ExAC gnomAD
rs1321014997 CA384302670	51	L>P		No	ClinGen TOPMed
CA6480536 rs765231185	53	D>E		No	ClinGen ExAC gnomAD
CA234084286 rs75808403	55	L>F		No	ClinGen Ensembl
CA384302642 rs1447161700	56	E>Q		No	ClinGen gnomAD
CA384302614 rs1385268220	59	L>R		No	ClinGen TOPMed gnomAD
CA234084285 rs974109261	61	G>*		No	ClinGen Ensembl
CA6480535 rs180857589	67	Q>*		No	ClinGen 1000Genomes ExAC gnomAD
CA384302493 rs776266803	76	P>L		No	ClinGen ExAC TOPMed gnomAD
rs776266803 CA6480534	76	P>R		No	ClinGen ExAC TOPMed gnomAD
CA384302495 rs1430298887	76	P>S		No	ClinGen TOPMed
TCGA novel	78	I>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA384302480 rs1417210154	78	I>T		No	ClinGen gnomAD
rs1234429083 CA384302475	79	V>A		No	ClinGen TOPMed
rs765871273 TCGA novel CA6480533	79	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen ExAC gnomAD NCI-TCGA
rs1591832270 CA384302462	81	D>G		No	ClinGen Ensembl
rs1293252976 CA384302465	81	D>H		No	ClinGen TOPMed
TCGA novel	81	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1209196863 CA384302434	83	D>V		No	ClinGen TOPMed
CA384302410 rs1591830395	87	T>P		No	ClinGen Ensembl
CA6480514 rs145369309	88	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA gnomAD
COSM937980 rs760127821 CA6480513	89	N>S	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
rs750054435 CA6480512	90	S>Y		No	ClinGen ExAC gnomAD
CA384302373 rs1315267510	93	V>I		No	ClinGen gnomAD
rs1275651516 CA384302351	96	T>I		No	ClinGen gnomAD
rs775823044 CA6480509	97	A>S		No	ClinGen ExAC gnomAD
CA384302344 rs1238939649	98	G>R		No	ClinGen TOPMed
rs11547925 CA234083945	98	G>V		No	ClinGen Ensembl
COSM1360692 CA6480508 rs759971220	100	R>C	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs777019739 CA6480506	100	R>H		No	ClinGen ExAC gnomAD
rs759971220 CA6480507	100	R>S		No	ClinGen ExAC gnomAD
rs1470044913 CA384302329	101	Q>E		No	ClinGen TOPMed
CA6480505 rs771000258	102	Q>R		No	ClinGen ExAC gnomAD
CA384302311 rs1414205301	103	E>G		No	ClinGen gnomAD
rs1172319275 CA384302314	103	E>K		No	ClinGen gnomAD
CA234083943 rs1016401841	105	E>Q		No	ClinGen TOPMed gnomAD
rs555915286 CA6480504	106	S>G		No	ClinGen 1000Genomes ExAC gnomAD
CA384302290 rs1474243555	106	S>I		No	ClinGen gnomAD
rs772410108 CA6480502	107	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs200872434 CA234083942	109	N>S		No	ClinGen TOPMed
rs1210154333 CA384302271	110	L>V		No	ClinGen gnomAD
CA384302264 rs1312554668	111	V>L		No	ClinGen gnomAD
CA384302266 rs1312554668	111	V>M		No	ClinGen gnomAD
CA6480500 rs778782743	112	Q>K		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	114	N>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs754833259 CA6480499	120	F>S		No	ClinGen ExAC TOPMed gnomAD
rs753761460 CA6480498	121	I>V		No	ClinGen ExAC TOPMed gnomAD
CA234083940 rs11547922	123	P>L		No	ClinGen gnomAD
rs11547927 CA234083941	123	P>T		No	ClinGen Ensembl
rs779889397 CA6480497	124	Q>*		No	ClinGen ExAC gnomAD
rs11547923 CA234083938	126	V>F		No	ClinGen ExAC TOPMed gnomAD
COSM240478 rs11547923 CA6480495	126	V>I	prostate [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA234083937 rs900401824 COSM1360691	127	K>E	large_intestine [Cosmic]	No	ClinGen cosmic curated Ensembl
CA384302155 rs1408591269	127	K>M		No	ClinGen gnomAD
CA384302156 rs1408591269 COSM1562200	127	K>R	large_intestine [Cosmic]	No	ClinGen cosmic curated gnomAD
CA384302131 rs1218363804	131	D>N		No	ClinGen TOPMed
rs1218363804 CA384302129	131	D>Y		No	ClinGen TOPMed
rs1591830159 CA384302111	133	I>T		No	ClinGen Ensembl
rs1254869106 CA384302104	134	I>T		No	ClinGen gnomAD
CA6480492 rs751220126	135	I>L		No	ClinGen ExAC gnomAD
rs1365786012 CA384302081	138	S>A		No	ClinGen gnomAD
CA6480490 rs765530804	139	N>K		No	ClinGen ExAC gnomAD
TCGA novel	140	P>=	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA234083745 rs996098454	142	D>N		No	ClinGen TOPMed
CA6480470 rs758116914	145	T>M		No	ClinGen ExAC gnomAD
CA384301779 rs1446544363	146	Y>C		No	ClinGen TOPMed
TCGA novel	147	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs201787369 CA234083743	152	S>G		No	ClinGen 1000Genomes
rs1351172250 CA384301704	152	S>N		No	ClinGen gnomAD
CA6480468 rs766833150	155	P>S		No	ClinGen ExAC gnomAD
CA6480467 rs761020554	156	K>R		No	ClinGen ExAC TOPMed gnomAD
rs1380657767 CA384301652	157	H>R		No	ClinGen gnomAD
COSM1360690 rs200163319 CA6480465	158	R>H	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
rs200163319 CA384301645	158	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs774614448 CA6480463	159	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA234083742 rs891165791	162	S>N		No	ClinGen Ensembl
CA234083741 rs918391919	163	G>R		No	ClinGen TOPMed gnomAD
CA234083739 rs778248674	164	C>Y		No	ClinGen gnomAD
CA6480460 rs775147149	167	D>N		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	168	S>Y	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1242683171 CA384301576	169	A>V		No	ClinGen gnomAD
CA6480459 rs370642139	171	F>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs745737131 CA6480458	172	R>C		No	ClinGen ExAC TOPMed gnomAD
rs140905990 CA6480457	174	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA384301549 rs140905990	174	L>I		No	ClinGen ESP ExAC TOPMed gnomAD
CA384301536 rs1160382855	175	M>K		No	ClinGen gnomAD
CA384301499 rs1591828956	177	E>G		No	ClinGen Ensembl
CA384301476 rs560145124 CA384301474	178	K>N		No	ClinGen gnomAD
rs1565626464 CA384301467	179	L>F		No	ClinGen Ensembl
CA234083737 rs746464388	181	I>V		No	ClinGen Ensembl
CA6480455 rs746496684	183	P>S		No	ClinGen ExAC gnomAD
CA6480453 rs200917173	186	C>F		No	ClinGen ExAC TOPMed gnomAD
CA6480454 rs200917173	186	C>Y		No	ClinGen ExAC TOPMed gnomAD
rs143676408 CA234083736	187	H>R		No	ClinGen ESP TOPMed gnomAD
CA384301344 rs1269769818	187	H>Y		No	ClinGen gnomAD
rs766595383 CA6480451	189	W>C		No	ClinGen ExAC TOPMed gnomAD
rs752398090 CA6480452	189	W>R		No	ClinGen ExAC gnomAD
CA384301243 rs1255811276	193	E>D		No	ClinGen gnomAD
CA6480450 rs756522572	193	E>K		No	ClinGen ExAC gnomAD
CA384301219 rs1313535156	195	G>R		No	ClinGen gnomAD
rs1313535156 CA384301221	195	G>S		No	ClinGen gnomAD
CA6480446 rs774560856	196	D>N		No	ClinGen ExAC TOPMed
CA6480445 rs764301938	197	S>*		No	ClinGen ExAC gnomAD
CA384301175 rs1225103238	198	S>I		No	ClinGen gnomAD
rs904666236 CA234083367	199	V>E		No	ClinGen TOPMed
rs113612324 CA234083735	199	V>M		No	ClinGen Ensembl
CA384300534 rs1259630148	200	A>D		No	ClinGen gnomAD
CA384300538 rs1187392161	200	A>S		No	ClinGen TOPMed
CA6480415 rs776401778	201	V>G		No	ClinGen ExAC gnomAD
CA234083366 rs1020789653	201	V>M		No	ClinGen TOPMed gnomAD
rs770713363 CA6480414	203	S>N		No	ClinGen ExAC gnomAD
rs1284696277 CA384300463	203	S>R		No	ClinGen gnomAD
rs1471407006 CA384300450	204	G>A		No	ClinGen TOPMed
TCGA novel	204	G>C	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	206	N>W	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
TCGA novel	210	V>A	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6480411 rs771441362	210	V>G		No	ClinGen ExAC gnomAD
CA6480410 rs747661244	211	S>F		No	ClinGen ExAC gnomAD
CA6480409 rs778336407	212	L>F		No	ClinGen ExAC
CA6480406 rs781636374	213	Q>P		No	ClinGen ExAC
CA384300266 rs752065961	214	E>D		No	ClinGen ExAC gnomAD
CA6480405 rs757713211	214	E>Q		No	ClinGen ExAC gnomAD
rs1010764541 CA234083364	215	L>V		No	ClinGen Ensembl
CA234083362 rs201634450	217	P>L		No	ClinGen 1000Genomes
rs11547926 CA234083363	217	P>S		No	ClinGen Ensembl
rs778379716 CA6480403	218	E>D		No	ClinGen ExAC TOPMed gnomAD
CA384300185 rs1314302255	219	M>I		No	ClinGen TOPMed
CA384300143 rs1591827061	222	D>E		No	ClinGen Ensembl
rs1390178148 CA384300138	223	N>S		No	ClinGen gnomAD
rs758872797 CA6480402	224	D>H		No	ClinGen ExAC gnomAD
CA6480401 rs752804722	225	S>T		No	ClinGen ExAC gnomAD
CA384300104 rs1375755898	227	N>K		No	ClinGen TOPMed
rs765295727 CA6480400	228	W>L		No	ClinGen ExAC gnomAD
rs1565625108 CA384300056	231	V>A		No	ClinGen Ensembl
CA234083361 rs201548991	231	V>M		No	ClinGen Ensembl
rs375806839 TCGA novel COSM172779 CA6480399	233	K>N	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD NCI-TCGA
CA6480398 rs754069527	234	M>V		No	ClinGen ExAC gnomAD
CA384300000 rs1331559620	235	V>M		No	ClinGen TOPMed
rs1057191568 CA234083360	236	V>L		No	ClinGen TOPMed gnomAD
CA6480379 rs766556338	238	S>R		No	ClinGen ExAC gnomAD
CA384299641 rs1330616677	240	Y>H		No	ClinGen TOPMed
TCGA novel	247	G>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA234083241 rs1043836031	247	G>E		No	ClinGen TOPMed gnomAD
CA384299580 rs1406789399	249	T>A	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA384299552 rs373042868	253	I>F		No	ClinGen ESP TOPMed gnomAD
CA6480374 rs774170965	253	I>T		No	ClinGen ExAC gnomAD
COSM692793 CA234083238 rs373042868	253	I>V	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ESP NCI-TCGA TOPMed gnomAD
CA6480371 rs762586092	259	D>N	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1476544702 CA384299448	263	S>P		No	ClinGen gnomAD
CA6480368 rs369578843	264	M>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA6480367 rs773554527	265	L>V		No	ClinGen ExAC gnomAD
rs1235696655 CA384299422	265	L>W		No	ClinGen gnomAD
TCGA novel	269	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA6480364 rs200161747	274	V>M		No	ClinGen ExAC gnomAD
TCGA novel	278	V>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1399015314 CA384299090	280	G>E		No	ClinGen TOPMed gnomAD
rs762050728 CA6480346	280	G>R		No	ClinGen ExAC gnomAD
rs774745720 CA384299083	281	M>R		No	ClinGen ExAC gnomAD
CA6480345 rs774745720	281	M>T		No	ClinGen ExAC gnomAD
rs749860887 CA6480342	284	I>V		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	285	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1387040181 CA384299033	288	V>A		No	ClinGen gnomAD
rs780042916 CA6480341	288	V>L		No	ClinGen ExAC gnomAD
CA384299027 rs1565624057	289	F>S		No	ClinGen Ensembl
rs769778835 CA6480339	291	S>T		No	ClinGen ExAC gnomAD
rs947068791 CA234083104	292	L>F		No	ClinGen gnomAD
rs746055819 CA6480338	293	P>A		No	ClinGen ExAC gnomAD
TCGA novel	293	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA234083103 rs3575	294	C>Y		No	ClinGen Ensembl
CA6480335 rs185741414 COSM3931606	297	N>S	urinary_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA6480333 rs562118168	298	A>D		No	ClinGen 1000Genomes ExAC gnomAD
rs562118168 CA6480334	298	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA6480330 rs753313189	299	R>Q	Variant assessed as Somatic; 0.0002311 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA6480331 rs764789602	299	R>W		No	ClinGen ExAC TOPMed gnomAD
rs753427975 CA6480328	302	T>I		No	ClinGen ExAC TOPMed gnomAD
rs542411659 CA384298918	304	V>F		No	ClinGen 1000Genomes ExAC gnomAD
CA6480326 rs542411659	304	V>I		No	ClinGen 1000Genomes ExAC gnomAD
rs1457999382 CA384298903	305	I>T		No	ClinGen gnomAD
rs1311051522 CA384298875	307	Q>R		No	ClinGen TOPMed
CA384298832 rs1591825374	310	K>M		No	ClinGen Ensembl
CA384298819 rs1367296507	311	D>G		No	ClinGen gnomAD
rs1156788843 CA384298767 COSM1135348	315	A>T	kidney [Cosmic]	No	ClinGen cosmic curated gnomAD
TCGA novel	318	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1380750650 CA384298658	323	T>A		No	ClinGen gnomAD
CA234083102 rs15140	323	T>I		No	ClinGen Ensembl
rs763395553 CA6480322	326	D>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	326	D>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1190643166 CA384298570	330	D>Y	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
CA384298552 rs1490538671	331	L>V		No	ClinGen gnomAD
CA6480320 rs769880403	333	D>V		No	ClinGen ExAC gnomAD
rs745906885 CA6480319	334	L>V		No	ClinGen ExAC gnomAD

1 associated diseases with P07195

[MIM: 614128]: Lactate dehydrogenase B deficiency (LDHBD)

A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. {ECO:0000269|PubMed:10211631, ECO:0000269|PubMed:11509017, ECO:0000269|PubMed:1587525, ECO:0000269|PubMed:2334429, ECO:0000269|PubMed:8314553, ECO:0000269|PubMed:8462975, ECO:0000269|PubMed:8611651, ECO:0000269|PubMed:9929983, ECO:0000269|Ref.23}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A condition with no deleterious effects on health. LDHBD is of interest to laboratory medicine mainly because it can cause misdiagnosis in those disorders in which elevation of serum LDH is expected. {ECO:0000269|PubMed:10211631, ECO:0000269|PubMed:11509017, ECO:0000269|PubMed:1587525, ECO:0000269|PubMed:2334429, ECO:0000269|PubMed:8314553, ECO:0000269|PubMed:8462975, ECO:0000269|PubMed:8611651, ECO:0000269|PubMed:9929983, ECO:0000269|Ref.23}. Note=The disease is caused by variants affecting the gene represented in this entry.

4 regional properties for P07195

Type	Name	Position	InterPro Accession
domain	Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, C-terminal	276 - 521	IPR006096
domain	Glutamate/phenylalanine/leucine/valine/L-tryptophan dehydrogenase, dimerisation domain	131 - 258	IPR006097
active_site	Leu/Phe/Val dehydrogenases active site	196 - 209	IPR033524
domain	NAD(P) binding domain of glutamate dehydrogenase	269 - 521	IPR033922

Functions

		Description
EC Number	1.1.1.27	With NAD(+) or NADP(+) as acceptor
Subcellular Localization	Cytoplasm Mitochondrion inner membrane ; Peripheral membrane protein
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

7 GO annotations of cellular component

Name	Definition
cytoplasm	The contents of a cell excluding the plasma membrane and nucleus, but including other subcellular structures.
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.
extracellular exosome	A vesicle that is released into the extracellular region by fusion of the limiting endosomal membrane of a multivesicular body with the plasma membrane. Extracellular exosomes, also simply called exosomes, have a diameter of about 40-100 nm.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
membrane raft	Any of the small (10-200 nm), heterogeneous, highly dynamic, sterol- and sphingolipid-enriched membrane domains that compartmentalize cellular processes. Small rafts can sometimes be stabilized to form larger platforms through protein-protein and protein-lipid interactions.
mitochondrial inner membrane	The inner, i.e. lumen-facing, lipid bilayer of the mitochondrial envelope. It is highly folded to form cristae.
oxidoreductase complex	Any protein complex that possesses oxidoreductase activity.

4 GO annotations of molecular function

Name	Definition
identical protein binding	Binding to an identical protein or proteins.
kinase binding	Binding to a kinase, any enzyme that catalyzes the transfer of a phosphate group.
L-lactate dehydrogenase activity	Catalysis of the reaction: (S)-lactate + NAD+ = pyruvate + NADH + H+.
NAD binding	Binding to nicotinamide adenine dinucleotide, a coenzyme involved in many redox and biosynthetic reactions; binding may be to either the oxidized form, NAD+, or the reduced form, NADH.

3 GO annotations of biological process

Name	Definition
lactate metabolic process	The chemical reactions and pathways involving lactate, the anion of lactic acid.
NAD metabolic process	The chemical reactions and pathways involving nicotinamide adenine dinucleotide (NAD), a coenzyme present in most living cells and derived from the B vitamin nicotinic acid.
pyruvate metabolic process	The chemical reactions and pathways involving pyruvate, 2-oxopropanoate.

11 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P19858	LDHA	L-lactate dehydrogenase A chain	Bos taurus (Bovine)	PR
Q5E9B1	LDHB	L-lactate dehydrogenase B chain	Bos taurus (Bovine)	PR
Q5R1W9	LDHA	L-lactate dehydrogenase A chain	Pan troglodytes (Chimpanzee)	PR
P07864	LDHC	L-lactate dehydrogenase C chain	Homo sapiens (Human)	PR
P00338	LDHA	L-lactate dehydrogenase A chain	Homo sapiens (Human)	PR
P06151	Ldha	L-lactate dehydrogenase A chain	Mus musculus (Mouse)	PR
P16125	Ldhb	L-lactate dehydrogenase B chain	Mus musculus (Mouse)	PR
P00339	LDHA	L-lactate dehydrogenase A chain	Sus scrofa (Pig)	PR
P04642	Ldha	L-lactate dehydrogenase A chain	Rattus norvegicus (Rat)	PR
Q66KB7	uevld	Ubiquitin-conjugating enzyme E2 variant 3	Xenopus tropicalis (Western clawed frog) (Silurana tropicalis)	PR
Q6DBY5	uevld	Ubiquitin-conjugating enzyme E2 variant 3	Danio rerio (Zebrafish) (Brachydanio rerio)	PR

10	20	30	40	50	60
MATLKEKLIA	PVAEEEATVP	NNKITVVGVG	QVGMACAISI	LGKSLADELA	LVDVLEDKLK
70	80	90	100	110	120
GEMMDLQHGS	LFLQTPKIVA	DKDYSVTANS	KIVVVTAGVR	QQEGESRLNL	VQRNVNVFKF
130	140	150	160	170	180
IIPQIVKYSP	DCIIIVVSNP	VDILTYVTWK	LSGLPKHRVI	GSGCNLDSAR	FRYLMAEKLG
190	200	210	220	230	240
IHPSSCHGWI	LGEHGDSSVA	VWSGVNVAGV	SLQELNPEMG	TDNDSENWKE	VHKMVVESAY
250	260	270	280	290	300
EVIKLKGYTN	WAIGLSVADL	IESMLKNLSR	IHPVSTMVKG	MYGIENEVFL	SLPCILNARG
310	320	330
LTSVINQKLK	DDEVAQLKKS	ADTLWDIQKD	LKDL