AiPD: Autoinhibited Protein Database

P53602

Gene name	MVD (MPD)
Protein name	Diphosphomevalonate decarboxylase
Names	Mevalonate (diphospho)decarboxylase, MDDase, Mevalonate pyrophosphate decarboxylase
Species	Homo sapiens (Human)
KEGG Pathway	hsa:4597
EC number	4.1.1.33: Carboxy-lyases
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

54-133 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

54-133 (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

2 structures for P53602

Entry ID	Method	Resolution	Chain	Position	Source
3D4J	X-ray	240 A	A/B	1-400	PDB
AF-P53602-F1	Predicted				AlphaFoldDB

474 variants for P53602

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
CA397083952 rs1597381715 RCV000791135	43	L>P	Porokeratosis 7, multiple types [ClinVar]	Yes	ClinGen ClinVar Ensembl dbSNP
VAR_075052 rs200033380 CA8228989	101	P>R	POROK7; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
CA8228974 VAR_075053 rs776358937	128	A>V	POROK7; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_075054	161	R>L	POROK7; unknown pathological significance [UniProt]	Yes	UniProt
rs144010349 CA8228887 VAR_075055	161	R>Q	POROK7; 1000-fold diminution in diphosphomevalonate decarboxylase activity [UniProt]	Yes	ClinGen UniProt ESP ExAC TOPMed dbSNP gnomAD
CA8228778 rs770939767 VAR_075056	228	R>Q	POROK7; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
VAR_075057 rs776684503 CA8228779	228	R>W	POROK7; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
RCV000239486 CA8228757 VAR_075058 rs761991070	249	F>S	Porokeratosis 7, multiple types (porok7) Porokeratosis 7, multiple types POROK7 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_075059 CA8228726 rs755948940 RCV000239520	292	N>S	Porokeratosis 7, multiple types (porok7) Porokeratosis 7, multiple types POROK7 [Ensembl, ClinVar, UniProt]	Yes	ClinGen ClinVar UniProt ExAC TOPMed dbSNP gnomAD
VAR_075060 rs764836183	371	I>missing	POROK7; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
VAR_075060 rs764836183	371	I>del	POROK7; unknown pathological significance [UniProt]	Yes	UniProt dbSNP
VAR_075061 CA397069041 rs546127665 CA8228584	376	G>R	POROK7; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC dbSNP gnomAD
CA8229191 rs779249091	2	A>T		No	ClinGen ExAC TOPMed gnomAD
rs891182332 CA286369665	3	S>T		No	ClinGen gnomAD
CA8229190 rs562445217	3	S>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8229189 rs754033758	4	E>D		No	ClinGen ExAC gnomAD
rs1473072747 CA397087864	6	P>A		No	ClinGen gnomAD
CA8229188 rs200621321	6	P>L		No	ClinGen ExAC TOPMed gnomAD
rs200621321 CA8229187	6	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA397087849 rs767956332	7	L>M		No	ClinGen ExAC gnomAD
rs1567619842 CA397087831	7	L>P		No	ClinGen Ensembl
CA8229184 rs762416390	8	A>T		No	ClinGen ExAC gnomAD
rs1215621773 CA397087817	8	A>V		No	ClinGen gnomAD
CA397087808 rs1281597517	9	A>T		No	ClinGen gnomAD
CA8229182 rs142431370	9	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs1292271942 CA397087794	10	V>I		No	ClinGen gnomAD
CA8229180 rs776161415	11	T>I		No	ClinGen ExAC TOPMed gnomAD
CA286369596 rs746844528	12	C>F		No	ClinGen ExAC TOPMed gnomAD
CA8229178 rs746844528	12	C>S		No	ClinGen ExAC TOPMed gnomAD
rs746844528 CA8229179	12	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA397087697 rs1161455426	13	T>K		No	ClinGen gnomAD
CA397087685 rs1457805038	14	A>P		No	ClinGen gnomAD
rs1417470755 CA397087663	14	A>V		No	ClinGen TOPMed gnomAD
rs779091740 CA8229174	15	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8229175 rs748114480	15	P>S		No	ClinGen ExAC gnomAD
rs1485217002 CA397087628	16	V>I		No	ClinGen gnomAD
rs532101272 CA397087521	19	A>E		No	ClinGen 1000Genomes ExAC gnomAD
rs532101272 CA8229172	19	A>V		No	ClinGen 1000Genomes ExAC gnomAD
rs1231003112 CA397087485	20	V>D		No	ClinGen gnomAD
rs1272185055 CA397087500	20	V>I		No	ClinGen TOPMed gnomAD
rs201991933 CA8229169	21	I>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8229170 rs201991933	21	I>V		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs763983653 CA8229120	24	W>*		No	ClinGen ExAC gnomAD
rs1372448845 CA397084554	24	W>C		No	ClinGen gnomAD
rs1186548447 CA397084526	25	G>D		No	ClinGen gnomAD
rs200509037 CA8229119	27	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs775511232 CA8229118	27	R>H		No	ClinGen ExAC TOPMed gnomAD
rs775511232 COSM404692 CA397084467	27	R>L	lung [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA286366790 rs200509037	27	R>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8229115 rs776801976	28	D>N		No	ClinGen ExAC TOPMed gnomAD
CA286366760 rs967736143	29	E>K		No	ClinGen TOPMed
CA397084305 rs1231355218	31	L>V		No	ClinGen TOPMed
CA8229111 rs141900581	35	I>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs748541115 CA397084215	36	N>I		No	ClinGen ExAC TOPMed gnomAD
rs748541115 CA8229110	36	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397084176 rs1366538026	38	S>Y		No	ClinGen gnomAD
rs146412581 CA8229107	41	V>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs1405767758 CA397084020	42	T>P		No	ClinGen gnomAD
CA8229106 rs780873932	46	D>E		No	ClinGen ExAC TOPMed gnomAD
CA397083749 rs756932893	47	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA397083768 rs1167688147	47	Q>R		No	ClinGen TOPMed
CA286366355 CA8229084 rs752585992	48	L>*		No	ClinGen ExAC gnomAD
rs1597381172 CA397082645	50	T>P		No	ClinGen Ensembl
rs1597381167 CA397082640	51	T>P		No	ClinGen Ensembl
rs1286019179 CA397082631	52	T>I		No	ClinGen TOPMed gnomAD
rs1411462733 CA397082628	53	T>A		No	ClinGen TOPMed gnomAD
rs11556525 CA286366340	53	T>I		No	ClinGen TOPMed gnomAD
rs1411462733 CA397082629	53	T>P		No	ClinGen TOPMed gnomAD
CA397082625 rs11556525	53	T>R		No	ClinGen TOPMed gnomAD
CA8229083 rs764961928	54	A>V		No	ClinGen ExAC gnomAD
rs200435526 CA8229081	55	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs369603174 CA8229079	57	S>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8229078 rs773279830	57	S>T		No	ClinGen ExAC TOPMed gnomAD
CA8229077 rs375979090	59	D>H		No	ClinGen ESP ExAC gnomAD
CA8229076 rs202087443	61	T>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA286366317 rs1012064332	62	E>K		No	ClinGen TOPMed gnomAD
CA8229073 rs749757442	63	D>E		No	ClinGen ExAC gnomAD
rs1597381106 CA397082564	63	D>Y		No	ClinGen Ensembl
COSM3402539 CA8229070 rs746569295	64	R>Q	Variant assessed as Somatic; 0.0 impact. central_nervous_system [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8229071 rs770561548	64	R>W		No	ClinGen ExAC gnomAD
rs200434281 CA8229069	66	W>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA397082540 rs1296450498	67	L>V		No	ClinGen TOPMed
rs371763667 CA8229068	68	N>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs778700499 CA8229066	69	G>R		No	ClinGen ExAC gnomAD
CA8229065 rs754779116	70	R>G		No	ClinGen ExAC TOPMed gnomAD
rs774779770 CA8229064	70	R>Q		No	ClinGen ExAC TOPMed gnomAD
CA397082524 rs754779116	70	R>W		No	ClinGen ExAC TOPMed gnomAD
CA286366291 rs1043766216	73	D>E		No	ClinGen TOPMed
CA397082503 rs1434498625	73	D>Y		No	ClinGen gnomAD
CA8229063 rs766367485	74	V>G		No	ClinGen ExAC gnomAD
CA8229062 rs756168102	75	G>V		No	ClinGen ExAC TOPMed gnomAD
rs762031727 CA8229059	77	P>L		No	ClinGen ExAC gnomAD
rs1425874673 CA397082447	77	P>S		No	ClinGen gnomAD
rs528393793 CA286366267	78	R>L		No	ClinGen 1000Genomes gnomAD
TCGA novel	78	R>P	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs528393793 CA286366268	78	R>Q		No	ClinGen 1000Genomes gnomAD
rs2279258 CA8229057	78	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8229054 rs149300368	80	Q>*		No	ClinGen ESP ExAC TOPMed
rs746384333 CA8229053	80	Q>P		No	ClinGen ExAC
TCGA novel	81	A>G	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397082360 rs1465103764	81	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8229051 rs772737070	82	C>S		No	ClinGen ExAC gnomAD
CA8229050 rs771486207	83	L>P		No	ClinGen ExAC gnomAD
CA8229047 rs200508667	84	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs150594289 CA8229048	84	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8229046 rs199644137	85	E>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs961657047 CA286366248	85	E>G		No	ClinGen Ensembl
CA397082294 rs887405693	85	E>K		No	ClinGen TOPMed gnomAD
CA286366251 rs887405693	85	E>Q		No	ClinGen TOPMed gnomAD
CA8229006 rs201753135	87	R>C		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200100993 CA8229005	87	R>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs376547753 CA397082085	88	C>F		No	ClinGen 1000Genomes ExAC gnomAD
CA8229003 rs376547753	88	C>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA8229002 rs138188988	90	A>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8229001 rs138188988	90	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs766800711 CA8229000	91	R>G		No	ClinGen ExAC TOPMed gnomAD
rs544260643 CA286365976	91	R>P		No	ClinGen ExAC TOPMed gnomAD
rs544260643 CA8228998	91	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs766800711 CA8228999	91	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA397082028 rs1339274565	92	K>N		No	ClinGen gnomAD
CA8228996 rs763584695	93	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs370626160 CA8228997	93	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs990486879 CA286365967	94	R>K		No	ClinGen gnomAD
CA286365964 rs376949804	97	R>P		No	ClinGen ESP ExAC TOPMed
CA8228993 rs376949804	97	R>Q		No	ClinGen ESP ExAC TOPMed
CA8228994 rs370555660	97	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA397081916 rs1299463719	100	D>Y		No	ClinGen TOPMed
CA8228990 rs200033380	101	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs776247940 CA8228991	101	P>S		No	ClinGen ExAC TOPMed gnomAD
rs1597380561 CA397081853	104	S>P		No	ClinGen Ensembl
CA286365946 rs759727451	105	S>I		No	ClinGen TOPMed gnomAD
CA8228987 rs772270252	106	L>F		No	ClinGen ExAC gnomAD
TCGA novel	106	L>I	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs539888157 CA8228986	107	S>I		No	ClinGen ExAC TOPMed gnomAD
rs1210666990 CA397081796	108	C>Y		No	ClinGen TOPMed gnomAD
rs147252211 CA397081750	112	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA8228985 rs147252211	112	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
rs1425276990 CA397081738	113	A>T		No	ClinGen TOPMed
CA8228983 rs372683488	114	S>L	Variant assessed as Somatic; 0.0001408 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs756532159 CA8228981	115	V>L		No	ClinGen ExAC gnomAD
TCGA novel rs1054893298 CA397081676	116	N>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen TOPMed gnomAD NCI-TCGA
CA8228980 rs750927121	117	N>D		No	ClinGen ExAC gnomAD
rs768053006 CA8228979	117	N>K		No	ClinGen ExAC TOPMed gnomAD
CA397081629 rs1318527715	119	P>S		No	ClinGen gnomAD
rs757884457 CA8228978	120	T>M		No	ClinGen ExAC TOPMed gnomAD
rs752101138 CA8228977	122	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA8228975 rs759042018	123	G>D		No	ClinGen ExAC gnomAD
rs1186810845 CA397081508	126	S>F		No	ClinGen gnomAD
CA397081474 rs1453920636	128	A>S		No	ClinGen TOPMed
CA397081449 rs1198357889	129	A>T		No	ClinGen gnomAD
rs370500274 CA8228972	129	A>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs773248491 CA8228971	130	G>S		No	ClinGen ExAC gnomAD
rs772182538 CA8228970	131	Y>F		No	ClinGen ExAC gnomAD
rs1301483388 CA397081280	134	L>V		No	ClinGen gnomAD
CA8228919 rs764142394	136	Y>H		No	ClinGen ExAC TOPMed gnomAD
CA397080082 rs762821371	137	T>I		No	ClinGen ExAC gnomAD
CA397080098 rs1597379412	137	T>P		No	ClinGen Ensembl
CA8228918 rs762821371	137	T>S		No	ClinGen ExAC gnomAD
rs969969487 CA286365077	138	L>V		No	ClinGen TOPMed
rs1428559825 CA397080051	139	A>T		No	ClinGen gnomAD
rs143689631 CA8228917	140	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA397079994 rs1171905332	140	R>H		No	ClinGen TOPMed gnomAD
rs1453366567 CA397079958	141	V>D		No	ClinGen Ensembl
CA8228914 rs148982299	142	Y>*		No	ClinGen ESP ExAC TOPMed gnomAD
rs771195919 CA8228913	143	G>S		No	ClinGen ExAC TOPMed gnomAD
rs772577920 CA8228910	144	V>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	145	E>Q	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397079749 rs1204280989	146	S>N		No	ClinGen gnomAD
rs1597379365 CA397079705	147	D>A		No	ClinGen Ensembl
rs138878057 CA8228908	148	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
rs755746208 CA8228907	149	S>T		No	ClinGen ExAC gnomAD
rs150275437 CA8228906	150	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597379350 CA397079479	151	V>G		No	ClinGen Ensembl
rs1366234445 CA397079477	152	A>S		No	ClinGen TOPMed
rs781035410 CA286365049	153	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8228905 rs781035410	153	R>G		No	ClinGen ExAC TOPMed gnomAD
rs200513715 CA397079426	153	R>H		No	ClinGen ExAC TOPMed gnomAD
rs200513715 CA397079418	153	R>L		No	ClinGen ExAC TOPMed gnomAD
rs200513715 CA8228904	153	R>P		No	ClinGen ExAC TOPMed gnomAD
CA397079409 rs141463390	154	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA8228900 rs758290735	154	R>P		No	ClinGen ExAC TOPMed
CA8228901 rs758290735	154	R>Q		No	ClinGen ExAC TOPMed
rs141463390 CA8228903	154	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs752643625 CA8228899	155	G>V		No	ClinGen ExAC TOPMed gnomAD
rs759678775 CA8228894 CA397079357	156	S>*		No	ClinGen ExAC TOPMed gnomAD
rs765285056 CA397079361	156	S>A		No	ClinGen ExAC gnomAD
CA8228895 rs765285056	156	S>P		No	ClinGen ExAC gnomAD
rs1597379297 CA397079282	158	S>G		No	ClinGen Ensembl
rs377692353 CA397079250	158	S>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA8228890 rs773583136	159	A>T		No	ClinGen ExAC TOPMed gnomAD
CA397079219 rs1567615264	159	A>V		No	ClinGen Ensembl
rs1196489891 CA397079188	160	C>F		No	ClinGen gnomAD
rs146629473 CA8228888	161	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8228886 rs769401934	162	S>N		No	ClinGen ExAC gnomAD
CA8228885 rs745423828	164	Y>C		No	ClinGen ExAC gnomAD
rs780590286 CA8228884	165	G>R		No	ClinGen ExAC gnomAD
CA8228881 rs369480516	166	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
rs756895566 CA8228883	166	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs369480516 CA8228882	166	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
CA397078937 rs1597379242	167	F>V		No	ClinGen Ensembl
TCGA novel	171	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs752625315 CA8228879	172	M>L		No	ClinGen ExAC TOPMed gnomAD
rs372043528 CA8228878	173	G>E		No	ClinGen ESP ExAC gnomAD
CA8228877 rs755027753	174	E>G		No	ClinGen ExAC gnomAD
CA8228876 rs567533965	175	Q>H		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1406314887 CA397078552	176	A>T		No	ClinGen gnomAD
CA397078508 rs767921379	177	D>E		No	ClinGen ExAC TOPMed gnomAD
CA8228873 rs750620841	177	D>G		No	ClinGen ExAC gnomAD
CA8228874 rs760881892	177	D>N		No	ClinGen ExAC TOPMed gnomAD
CA397078520 rs760881892	177	D>Y		No	ClinGen ExAC TOPMed gnomAD
CA8228871 rs762310987	178	G>R		No	ClinGen ExAC TOPMed gnomAD
CA8228870 rs774981924	180	D>E		No	ClinGen ExAC gnomAD
CA8228869 rs769238255	182	I>T		No	ClinGen ExAC gnomAD
CA397078346 rs142098957	183	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA8228867 rs142098957	183	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs148668035 CA397078273	184	R>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs752905131 CA397078257	184	R>L		No	ClinGen TOPMed gnomAD
rs752905131 CA397078262	184	R>P		No	ClinGen TOPMed gnomAD
rs752905131 CA286364966	184	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs148668035 CA8228865	184	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs777354695 CA8228864	185	Q>*		No	ClinGen ExAC TOPMed
rs771823020 CA8228863	186	V>M		No	ClinGen ExAC gnomAD
rs369371155 CA8228860	187	A>S		No	ClinGen ESP ExAC TOPMed gnomAD
rs569320748 CA8228858	189	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1319392233 CA397077960	190	S>L		No	ClinGen gnomAD
rs951037208 CA286364925	190	S>T		No	ClinGen Ensembl
rs1386943872 CA397077908	192	W>*		No	ClinGen gnomAD
CA397077915 rs1480336072	192	W>*		No	ClinGen TOPMed
CA8228857 rs780120979	192	W>R		No	ClinGen ExAC TOPMed gnomAD
CA8228856 rs375844540	194	E>D		No	ClinGen ESP ExAC gnomAD
COSM1709502 rs750630125 CA8228855	196	R>C	skin [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA8228854 rs371444942	196	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371444942 CA8228853	196	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs763497822 CA397076010	197	V>L		No	ClinGen ExAC TOPMed gnomAD
rs763497822 CA8228850	197	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1448940967 CA397075977	198	L>F		No	ClinGen gnomAD
rs770468839 CA8228848	199	I>V		No	ClinGen ExAC gnomAD
rs760142026 CA8228847	200	L>F		No	ClinGen ExAC TOPMed gnomAD
rs772898556 CA8228846	201	V>L		No	ClinGen ExAC gnomAD
CA397075632 rs1200720522	202	V>A		No	ClinGen TOPMed
CA8228816 rs112697935	204	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs781364427 CA8228815	204	A>V		No	ClinGen ExAC gnomAD
CA286364579 rs867157914	205	E>*		No	ClinGen Ensembl
rs757471715 CA397075558	206	K>N		No	ClinGen ExAC TOPMed gnomAD
CA397075551 rs1336491945	207	K>Q		No	ClinGen TOPMed gnomAD
CA397075530 COSM3712186 rs1333589726	208	L>M	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated gnomAD
rs1333589726 CA397075528	208	L>V		No	ClinGen gnomAD
CA397075506 rs1468473376	209	T>I		No	ClinGen TOPMed gnomAD
CA8228811 rs374121329	210	G>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs374121329 CA8228812	210	G>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8228810 rs758766190	211	S>I		No	ClinGen ExAC TOPMed gnomAD
rs752955295 CA8228809	212	T>I		No	ClinGen ExAC gnomAD
rs542107288 CA286364564	213	V>M		No	ClinGen 1000Genomes TOPMed gnomAD
CA397075394 rs1470792968	214	G>A		No	ClinGen gnomAD
rs765664689 CA8228807	215	M>T		No	ClinGen ExAC gnomAD
CA286364559 rs923061754	216	R>Q		No	ClinGen TOPMed gnomAD
CA8228806 rs370299302	216	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA8228805 rs574614800	217	A>G		No	ClinGen 1000Genomes ExAC gnomAD
CA397075323 rs1245337249	217	A>T		No	ClinGen TOPMed
rs1316056033 CA397075283	218	S>N		No	ClinGen TOPMed gnomAD
CA397075280 rs1316056033	218	S>T		No	ClinGen TOPMed gnomAD
rs1225460246 CA397075245	220	E>K		No	ClinGen gnomAD
rs1225460246 CA397075242	220	E>Q		No	ClinGen gnomAD
rs761377322 CA8228803	221	T>A		No	ClinGen ExAC
CA397075206 rs1354101359	221	T>I		No	ClinGen TOPMed
rs374443480 CA8228802	222	S>R		No	ClinGen ExAC TOPMed gnomAD
CA397075143 rs1446089611	223	P>S		No	ClinGen TOPMed
CA397075118 rs1434848150	224	L>P		No	ClinGen gnomAD
CA397075125 rs1337566895	224	L>V		No	ClinGen gnomAD
CA286364543 rs971840352	225	L>R		No	ClinGen TOPMed
CA8228801 rs763691040	225	L>V		No	ClinGen ExAC gnomAD
CA8228799 rs769646021	226	R>G		No	ClinGen ExAC TOPMed gnomAD
rs373594765 CA8228796	226	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs373594765 CA397075071	226	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs373594765 CA8228797	226	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs769646021 CA8228798	226	R>W		No	ClinGen ExAC TOPMed gnomAD
rs770939767 CA397074777	228	R>L		No	ClinGen ExAC TOPMed gnomAD
rs1269453701 CA397074765	229	A>S		No	ClinGen TOPMed gnomAD
rs1269453701 CA397074776	229	A>T		No	ClinGen TOPMed gnomAD
rs139812589 CA8228775	230	E>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8228774 rs139812589	230	E>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs371091142 CA8228773	231	S>A		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	231	S>F	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8228771 rs749607828	232	V>M		No	ClinGen ExAC gnomAD
rs868163421 CA286364347	234	P>L		No	ClinGen TOPMed gnomAD
CA397074659 rs1276050250	235	A>T		No	ClinGen TOPMed
CA8228770 rs780429715	235	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs750941569 COSM974730 CA8228768	236	R>C	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA8228767 COSM1609769 rs377645347	236	R>H	liver [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA397074588 rs377645347	236	R>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs1465856301 CA397074557	237	M>L		No	ClinGen gnomAD
rs757996532 CA8228766	237	M>T		No	ClinGen ExAC TOPMed gnomAD
CA397074561 rs1465856301	237	M>V		No	ClinGen gnomAD
CA8228765 rs60803836	238	A>V	Variant assessed as Somatic; 6.376e-05 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs1180925822 CA397074389	240	M>T		No	ClinGen gnomAD
CA397074378 rs1417233558	241	A>P		No	ClinGen gnomAD
rs200296577 CA8228763	242	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
CA397074320 COSM1172371 rs1177828138	242	R>H	Variant assessed as Somatic; 0.0 impact. oesophagus [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA gnomAD
CA397074265 rs1461053752	244	I>V		No	ClinGen gnomAD
rs766276924 CA8228761	245	R>Q		No	ClinGen ExAC gnomAD
rs780694192 COSM1380425 CA8228762	245	R>W	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA286364302 rs541624153	246	E>Q		No	ClinGen 1000Genomes
rs529881444 CA8228759	247	R>*		No	ClinGen 1000Genomes ExAC gnomAD
rs143846527 CA8228758	247	R>Q	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA286364290 rs375497943	248	D>N		No	ClinGen gnomAD
CA397074092 rs375497943	248	D>Y		No	ClinGen gnomAD
rs1308581314 CA397074054	249	F>L		No	ClinGen TOPMed gnomAD
rs1381627019 CA397073984	250	P>R		No	ClinGen TOPMed gnomAD
COSM1215983 rs768885691 CA8228755	251	S>N	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA397073963 rs1567614348	251	S>R		No	ClinGen Ensembl
rs749517862 CA397073913	252	F>L		No	ClinGen ExAC TOPMed gnomAD
CA8228753 rs202128233	253	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs916266151 CA286364279	253	A>V		No	ClinGen TOPMed gnomAD
CA397073856 rs1159358652	254	Q>H		No	ClinGen gnomAD
rs770206347 CA8228752	255	L>V		No	ClinGen ExAC gnomAD
rs746373755 CA8228751	257	M>K		No	ClinGen ExAC gnomAD
CA286364273 rs1046628363	260	S>G		No	ClinGen TOPMed gnomAD
CA8228750 rs781744174	261	N>S		No	ClinGen ExAC TOPMed gnomAD
CA397073638 rs781744174	261	N>T		No	ClinGen ExAC TOPMed gnomAD
CA397073603 rs895501668	262	Q>*		No	ClinGen gnomAD
rs895501668 CA286364268	262	Q>E		No	ClinGen gnomAD
rs747642589 CA8228748	264	H>R		No	ClinGen ExAC TOPMed gnomAD
CA397073487 rs1240249205	265	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed gnomAD
rs754606678 CA8228746	265	A>V		No	ClinGen ExAC gnomAD
CA8228744 rs766262660	266	T>P		No	ClinGen ExAC gnomAD
rs767538183 CA8228741	270	T>I		No	ClinGen ExAC gnomAD
CA8228739 rs774423739	271	F>L		No	ClinGen ExAC TOPMed gnomAD
rs764173847 CA8228738	272	P>L		No	ClinGen ExAC gnomAD
rs1423908127 CA397073212	272	P>S		No	ClinGen gnomAD
CA286364244 rs1043304795	275	S>F		No	ClinGen gnomAD
CA397073070 rs1043304795	275	S>Y		No	ClinGen gnomAD
rs770116489 CA8228735	276	Y>*		No	ClinGen ExAC gnomAD
CA397072971 rs1191531304	277	L>V		No	ClinGen gnomAD
rs34519538 CA8228733 VAR_051605	278	N>H		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs375976649 CA286364229	278	N>S		No	ClinGen ESP gnomAD
CA397072849 rs1289018849	280	I>V		No	ClinGen gnomAD
rs1567614223 CA397072820	281	S>Y		No	ClinGen Ensembl
CA397072743 rs1211057931	283	R>C		No	ClinGen TOPMed gnomAD
rs1356648933 CA397072740	283	R>H		No	ClinGen gnomAD
CA8228732 rs771425645	284	I>V		No	ClinGen ExAC gnomAD
CA286364226 CA397072629 rs987425504	286	H>Q		No	ClinGen gnomAD
CA397072579 rs1328038675	288	V>A		No	ClinGen gnomAD
rs778424719 CA8228730	289	H>Q		No	ClinGen ExAC TOPMed gnomAD
rs754592423 CA8228729	290	R>C		No	ClinGen ExAC TOPMed gnomAD
CA8228728 rs748943997	290	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA286364224 rs748943997	290	R>L		No	ClinGen ExAC TOPMed gnomAD
CA8228727 rs779892109	291	F>L		No	ClinGen ExAC gnomAD
rs1476505800 CA397072386	293	A>D		No	ClinGen TOPMed gnomAD
CA8228724 rs767222099	293	A>T		No	ClinGen ExAC TOPMed gnomAD
rs1476505800 CA397072380	293	A>V		No	ClinGen TOPMed gnomAD
CA397072319 rs1199121995	294	H>Q		No	ClinGen gnomAD
CA397072352 rs1424873325	294	H>Y		No	ClinGen gnomAD
rs150857520 CA8228722	296	G>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA286364217 rs769879834	297	D>G		No	ClinGen gnomAD
rs1271662273 CA397072142	298	T>I		No	ClinGen gnomAD
rs1271662273 CA397072144	298	T>S		No	ClinGen gnomAD
CA8228721 rs764159467	299	K>E		No	ClinGen ExAC TOPMed gnomAD
rs369535053 CA8228720	299	K>N		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597377696 CA397071888	300	V>G		No	ClinGen Ensembl
CA8228696 rs754060502	301	A>V	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
CA8228694 rs760984054	304	F>L		No	ClinGen ExAC gnomAD
CA8228690 rs141450781	306	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA8228692 rs772656834	306	A>T	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA gnomAD
rs141450781 CA8228691	306	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs554003292 CA8228688	307	G>D		No	ClinGen 1000Genomes ExAC gnomAD
CA8228687 rs780751762	309	N>S		No	ClinGen ExAC gnomAD
CA8228686 rs770741071	310	A>T		No	ClinGen ExAC TOPMed gnomAD
rs200147810 CA8228684	311	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1320789692 CA397071591	312	I>V		No	ClinGen TOPMed gnomAD
CA8228683 rs148321136	315	L>P		No	ClinGen ESP ExAC TOPMed gnomAD
CA397071528 rs1360684763	315	L>V		No	ClinGen gnomAD
CA8228681 rs778946876	316	D>G		No	ClinGen ExAC gnomAD
rs1221867750 CA397071507	316	D>Y		No	ClinGen Ensembl
rs754059621 CA8228679	317	D>N		No	ClinGen ExAC gnomAD
CA397071435 rs1234476105	318	T>S		No	ClinGen gnomAD
rs1488556161 CA397071399	320	A>V		No	ClinGen gnomAD
CA397071378 rs1340262513	321	E>D		No	ClinGen gnomAD
rs76703327 CA286363857	325	A>G		No	ClinGen gnomAD
CA397071293 rs1220283512	325	A>S		No	ClinGen gnomAD
rs368231679 CA8228677	326	V>L		No	ClinGen ESP ExAC gnomAD
CA8228675 rs574976155	328	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA8228676 rs760972093	328	H>R		No	ClinGen ExAC gnomAD
CA286363841 rs370676684	329	G>D		No	ClinGen ESP ExAC TOPMed gnomAD
CA397071158 rs188551104	329	G>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs188551104 CA8228673	329	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs370676684 CA8228672	329	G>V		No	ClinGen ESP ExAC TOPMed gnomAD
rs759021364 CA8228670	330	F>L		No	ClinGen ExAC gnomAD
rs1351268294 CA397071123	330	F>V		No	ClinGen gnomAD
CA8228667 rs374779531	334	S>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs377299465 CA286363825	334	S>P		No	ClinGen Ensembl
rs748070228 CA8228664	335	N>K		No	ClinGen ExAC
CA397070933 rs1268043561	337	D>G		No	ClinGen TOPMed gnomAD
rs377428809 CA8228663	337	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA397070926 rs1268043561	337	D>V		No	ClinGen TOPMed gnomAD
CA8228662 rs755063696	338	T>M		No	ClinGen ExAC gnomAD
CA397070885 rs755063696	338	T>R		No	ClinGen ExAC gnomAD
rs751834820 CA8228636	340	L>P		No	ClinGen ExAC gnomAD
CA397069488 rs1374201080	341	K>N		No	ClinGen gnomAD
rs1327401553 CA397069480	342	G>E		No	ClinGen gnomAD
CA397069463 rs1332893126	344	Q>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
CA8228635 rs764526553	344	Q>R		No	ClinGen ExAC gnomAD
rs1597376621 CA397069448	345	V>G		No	ClinGen Ensembl
CA397069455 rs1334401898	345	V>M		No	ClinGen TOPMed
CA397069436 rs1334722784	346	R>S		No	ClinGen TOPMed
CA8228634 rs138484696	347	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	347	P>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1378085821 CA397069398	349	P>L		No	ClinGen gnomAD
rs750054928 CA8228630	350	L>V		No	ClinGen ExAC TOPMed gnomAD
rs1382231483 CA397069351	354	L>P		No	ClinGen gnomAD
CA8228629 rs145850660	354	L>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397069346 rs1201311812	355	Q>*		No	ClinGen TOPMed
CA8228627 rs200190764	355	Q>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs200190764 CA8228628	355	Q>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA8228626 rs762796554	356	A>P		No	ClinGen ExAC TOPMed gnomAD
CA8228625 rs762796554	356	A>S		No	ClinGen ExAC TOPMed gnomAD
rs1465904249 CA397069334	356	A>V		No	ClinGen gnomAD
rs151006109 CA8228624 COSM974729	357	A>V	endometrium [Cosmic]	No	ClinGen cosmic curated 1000Genomes ESP ExAC TOPMed gnomAD
CA8228622 rs145441544	359	A>P		No	ClinGen ESP ExAC gnomAD
rs145441544 CA397069315	359	A>T		No	ClinGen ESP ExAC gnomAD
rs1260579747 CA397069307	359	A>V		No	ClinGen gnomAD
CA8228621 rs772828781	360	M>L		No	ClinGen ExAC gnomAD
CA397069283 rs1350948090	361	E>G		No	ClinGen gnomAD
CA397069274 rs747271217	362	P>A		No	ClinGen ExAC TOPMed gnomAD
rs201844867 CA8228616	362	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201844867 CA8228618	362	P>Q		No	ClinGen ExAC TOPMed gnomAD
CA8228617 rs201844867	362	P>R		No	ClinGen ExAC TOPMed gnomAD
CA8228619 rs747271217	362	P>T		No	ClinGen ExAC TOPMed gnomAD
CA8228614 rs755497640	363	T>I		No	ClinGen ExAC gnomAD
CA8228611 rs761395784	365	G>A		No	ClinGen ExAC gnomAD
CA397069241 rs113497258	365	G>C		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA397069237 rs761395784	365	G>D		No	ClinGen ExAC gnomAD
CA8228612 rs113497258	365	G>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148833471 CA397069204	368	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1444255955 CA397069185	370	I>V		No	ClinGen gnomAD
CA397069168 rs546761521	371	I>N		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs546761521 CA8228608	371	I>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
TCGA novel	374	Q>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA397069043 rs1333960630	375	V>E		No	ClinGen TOPMed
CA397069031 rs1424990609	377	P>S		No	ClinGen gnomAD
rs1477307461 CA397069026	378	G>R		No	ClinGen gnomAD
CA397069016 rs1200311854	379	P>H		No	ClinGen gnomAD
CA397069010 rs1200311854	379	P>L		No	ClinGen gnomAD
rs145267803 CA286360005	379	P>S		No	ClinGen ESP TOPMed gnomAD
rs1597375911 CA397069005	380	Q>*		No	ClinGen Ensembl
TCGA novel	380	Q>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA8228581 rs189127618	383	D>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1333160605 CA397068936	384	D>E		No	ClinGen TOPMed
CA286359989 rs534734438	385	P>L		No	ClinGen 1000Genomes gnomAD
CA397068920 rs534734438	385	P>R		No	ClinGen 1000Genomes gnomAD
CA8228580 rs760855545	385	P>T		No	ClinGen ExAC gnomAD
rs774639483 CA397068888	386	C>W		No	ClinGen ExAC TOPMed gnomAD
rs367729578 CA8228577	386	C>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA397068879 rs769065449	387	A>S		No	ClinGen ExAC gnomAD
COSM974728 rs769065449 CA8228575	387	A>T	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
rs749765187 CA8228574	387	A>V		No	ClinGen ExAC gnomAD
CA397068858 rs1329492615	388	H>L		No	ClinGen gnomAD
CA286359951 rs868381895	388	H>N		No	ClinGen TOPMed gnomAD
CA397068861 rs1329492615	388	H>R		No	ClinGen gnomAD
CA397068865 rs868381895	388	H>Y		No	ClinGen TOPMed gnomAD
CA397068847 rs1401531468	389	L>F		No	ClinGen gnomAD
CA397068814 rs1173821299	391	G>A		No	ClinGen gnomAD
CA397068820 rs1427820398	391	G>S		No	ClinGen gnomAD
rs1379135951 CA397068792	392	P>L		No	ClinGen gnomAD
CA286359925 rs891874822	393	D>N		No	ClinGen gnomAD
CA8228570 rs374698190	394	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
TCGA novel	394	G>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1440665834 CA397068750	395	L>P		No	ClinGen gnomAD
rs774799205 CA8228569	396	P>L		No	ClinGen ExAC TOPMed gnomAD
CA8228568 rs774799205	396	P>R		No	ClinGen ExAC TOPMed gnomAD
COSM1380422 CA286359905 rs942046989	396	P>S	large_intestine Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA8228566 rs184535367	398	P>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs753800184 CA286359881	399	A>D		No	ClinGen ExAC gnomAD
rs753800184 CA8228565	399	A>G		No	ClinGen ExAC gnomAD
rs1307135770 CA397068696	399	A>T		No	ClinGen gnomAD

1 associated diseases with P53602

[MIM: 614714]: Porokeratosis 7, multiple types (POROK7)

A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269|PubMed:18823933, ECO:0000269|PubMed:26202976}. Note=The disease is caused by variants affecting the gene represented in this entry.

Without disease ID

A form of porokeratosis, a disorder of faulty keratinization characterized by one or more atrophic patches surrounded by a distinctive hyperkeratotic ridgelike border called the cornoid lamella. The keratotic lesions can progress to overt cutaneous neoplasms, typically squamous cell carcinomas. Multiple clinical variants of porokeratosis are recognized, including porokeratosis of Mibelli, linear porokeratosis, disseminated superficial actinic porokeratosis, palmoplantar porokeratosis, and punctate porokeratosis. Different clinical presentations can be observed among members of the same family. Individuals expressing more than one variant have also been reported. {ECO:0000269|PubMed:18823933, ECO:0000269|PubMed:26202976}. Note=The disease is caused by variants affecting the gene represented in this entry.

2 regional properties for P53602

Type	Name	Position	InterPro Accession
domain	GHMP kinase N-terminal domain	111 - 166	IPR006204
domain	Mvd1, C-terminal	197 - 382	IPR041431

Functions

		Description
EC Number	4.1.1.33	Carboxy-lyases
Subcellular Localization	Cytoplasm
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

1 GO annotations of cellular component

Name	Definition
cytosol	The part of the cytoplasm that does not contain organelles but which does contain other particulate matter, such as protein complexes.

4 GO annotations of molecular function

Name	Definition
ATP binding	Binding to ATP, adenosine 5'-triphosphate, a universally important coenzyme and enzyme regulator.
diphosphomevalonate decarboxylase activity	Catalysis of the reaction: (R)-5-diphosphomevalonate + ATP = ADP + CO(2) + H(+) + isopentenyl diphosphate + phosphate.
Hsp70 protein binding	Binding to a Hsp70 protein, heat shock proteins around 70kDa in size.
protein homodimerization activity	Binding to an identical protein to form a homodimer.

4 GO annotations of biological process

Name	Definition
cholesterol biosynthetic process	The chemical reactions and pathways resulting in the formation of cholesterol, cholest-5-en-3 beta-ol, the principal sterol of vertebrates and the precursor of many steroids, including bile acids and steroid hormones.
isopentenyl diphosphate biosynthetic process, mevalonate pathway	The chemical reactions and pathways resulting in the formation of isopentenyl diphosphate, via the intermediate mevalonate. This pathway converts acetate, in the form of acetyl-CoA, to isopentenyl diphosphate (IPP), the fundamental unit in isoprenoid biosynthesis, through a series of mevalonate intermediates.
isoprenoid biosynthetic process	The chemical reactions and pathways resulting in the formation of an isoprenoid compound, isoprene (2-methylbuta-1,3-diene) or compounds containing or derived from linked isoprene (3-methyl-2-butenylene) residues.
positive regulation of cell population proliferation	Any process that activates or increases the rate or extent of cell proliferation.

No homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
No homologous proteins

10	20	30	40	50	60
MASEKPLAAV	TCTAPVNIAV	IKYWGKRDEE	LVLPINSSLS	VTLHQDQLKT	TTTAVISKDF
70	80	90	100	110	120
TEDRIWLNGR	EEDVGQPRLQ	ACLREIRCLA	RKRRNSRDGD	PLPSSLSCKV	HVASVNNFPT
130	140	150	160	170	180
AAGLASSAAG	YACLAYTLAR	VYGVESDLSE	VARRGSGSAC	RSLYGGFVEW	QMGEQADGKD
190	200	210	220	230	240
SIARQVAPES	HWPELRVLIL	VVSAEKKLTG	STVGMRASVE	TSPLLRFRAE	SVVPARMAEM
250	260	270	280	290	300
ARCIRERDFP	SFAQLTMKDS	NQFHATCLDT	FPPISYLNAI	SWRIIHLVHR	FNAHHGDTKV
310	320	330	340	350	360
AYTFDAGPNA	VIFTLDDTVA	EFVAAVWHGF	PPGSNGDTFL	KGLQVRPAPL	SAELQAALAM
370	380	390
EPTPGGVKYI	IVTQVGPGPQ	ILDDPCAHLL	GPDGLPKPAA