AiPD: Autoinhibited Protein Database

Q92901

Gene name	RPL3L
Protein name	60S ribosomal protein L3-like
Names	Large ribosomal subunit protein uL3-like
Species	Homo sapiens (Human)
KEGG Pathway	hsa:6123
EC number
Protein Class

Descriptions

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

Autoinhibitory domains (AIDs)

1-61 (Predicted disordered autoinhibitory region) PR

Target domain
Relief mechanism
Assay	cis-regPred

AID

1-61 (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

1 structures for Q92901

Entry ID	Method	Resolution	Chain	Position	Source
AF-Q92901-F1	Predicted				AlphaFoldDB

463 variants for Q92901

Variant ID(s)	Position	Change	Description	Diseaes Association	Provenance
VAR_085880 CA7823111 rs770344400	27	G>D	CMD2D; unknown pathological significance [UniProt]	Yes	ClinGen UniProt ExAC TOPMed dbSNP gnomAD
rs143345186 CA7823088 VAR_087799	51	A>T	CMD2D; unknown pathological significance [UniProt]	Yes	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD UniProt
VAR_085881 rs376654625 CA7822979	116	R>H	Variant assessed as Somatic; 0.0 impact. CMD2D; unknown pathological significance [NCI-TCGA, UniProt]	Yes	ClinGen UniProt ESP ExAC NCI-TCGA TOPMed dbSNP gnomAD
CA7822912 rs143544112 VAR_085882	161	R>W	CMD2D; unknown pathological significance [UniProt]	Yes	ClinGen UniProt 1000Genomes ExAC TOPMed dbSNP gnomAD
COSM1740241 rs924125081 CA276734218 VAR_085883	189	T>M	NS CMD2D; unknown pathological significance [Cosmic, UniProt]	Yes	ClinGen cosmic curated UniProt TOPMed dbSNP gnomAD
CA394255183 rs1157241329 VAR_087800	231	V>F	CMD2D; unknown pathological significance [UniProt]	Yes	ClinGen gnomAD UniProt
rs771732216 VAR_085884 CA276732979	308	D>N	CMD2D; unknown pathological significance [UniProt]	Yes	ClinGen UniProt TOPMed dbSNP
VAR_085885	308	D>V	CMD2D; unknown pathological significance [UniProt]	Yes	UniProt
rs1465045317 VAR_085886 CA394253163	343	R>W	CMD2D; unknown pathological significance [UniProt]	Yes	ClinGen UniProt dbSNP gnomAD
rs201864074 CA394259749	4	R>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs201864074 CA7823127	4	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7823128 rs199552545	4	R>W		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs777086903 CA7823126	6	F>L		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	8	A>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1448647528 CA394259691	8	A>V	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA394259673 rs1302237625	9	P>L		No	ClinGen TOPMed
CA394259665 rs1261889172	10	R>P		No	ClinGen TOPMed gnomAD
rs1261889172 CA394259667	10	R>Q		No	ClinGen TOPMed gnomAD
rs530918397 CA7823124	10	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
rs778690877 CA276741698	11	H>Q		No	ClinGen ExAC TOPMed gnomAD
CA7823122 rs146294352	12	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7823121 rs374325924	13	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
rs1597030829 CA394259615	14	L>R		No	ClinGen Ensembl
rs1259699736 CA394259612	15	G>A		No	ClinGen gnomAD
CA394259611 rs1259699736	15	G>D		No	ClinGen gnomAD
rs760473495 CA7823119	15	G>S		No	ClinGen ExAC gnomAD
CA276741674 rs957591435	17	L>M		No	ClinGen Ensembl
CA394259593 rs1397841671	18	P>L		No	ClinGen gnomAD
CA394259597 rs1294034459	18	P>T		No	ClinGen gnomAD
CA394259587 rs1302779598	19	H>R		No	ClinGen gnomAD
rs767457024 CA394259576	20	K>N		No	ClinGen ExAC TOPMed gnomAD
rs1033094829 CA276741663	21	R>T		No	ClinGen TOPMed gnomAD
CA7823115 rs774604672	22	S>I		No	ClinGen ExAC gnomAD
rs761921697 CA7823116	22	S>R		No	ClinGen ExAC gnomAD
CA394259558 rs1422454460	23	H>L		No	ClinGen TOPMed gnomAD
CA7823114 rs768852529	23	H>Q		No	ClinGen ExAC gnomAD
CA394259560 rs1422454460	23	H>R		No	ClinGen TOPMed gnomAD
CA7823113 rs763373288	24	R>W		No	ClinGen ExAC TOPMed gnomAD
CA394259546 rs371136983 CA276741644	25	H>Q		No	ClinGen ESP gnomAD
rs1253396326 CA394259548	25	H>R		No	ClinGen gnomAD
CA276741639 rs998744992	26	R>Q		No	ClinGen gnomAD
CA7823112 rs142263860	26	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs1185471456 CA394259542	27	G>S		No	ClinGen Ensembl
TCGA novel	30	K>N	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
COSM3690808 CA7823109 rs548699428	31	T>M	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA7823107 rs372534523	33	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA394259498 rs372534523	33	P>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7823105 rs113403462	34	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
CA7823106 rs747652236	34	R>W		No	ClinGen ExAC TOPMed gnomAD
CA7823104 rs754614526	35	D>N		No	ClinGen ExAC gnomAD
rs528602679 COSM125940 CA7823103	36	D>E	upper_aerodigestive_tract [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC gnomAD
CA394259093 rs1368599770	39	Q>H		No	ClinGen TOPMed
CA7823102 rs779666651	40	P>L		No	ClinGen ExAC TOPMed gnomAD
rs1163428539 CA394259082	40	P>S		No	ClinGen gnomAD
CA7823099 rs545997769	41	V>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs545997769 CA7823100	41	V>M		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs146749305 CA7823098	42	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA7823096 rs148367011	44	T>K		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs148367011 CA7823095	44	T>M	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
rs765474624 CA7823093	45	A>G		No	ClinGen ExAC TOPMed gnomAD
rs927674489 CA276741587	45	A>T		No	ClinGen Ensembl
CA394258963 rs765474624	45	A>V		No	ClinGen ExAC TOPMed gnomAD
rs997051880 CA276741586	48	G>V		No	ClinGen TOPMed
CA7823091 rs771468514	49	Y>C		No	ClinGen ExAC TOPMed gnomAD
CA7823090 rs771468514	49	Y>F		No	ClinGen ExAC TOPMed gnomAD
rs1597030703 CA394258889	50	K>N		No	ClinGen Ensembl
CA7823087 rs768447801	51	A>V		No	ClinGen ExAC gnomAD
CA394258837 rs755911611	53	M>L		No	ClinGen ExAC TOPMed gnomAD
CA7823084 rs755911611	53	M>V		No	ClinGen ExAC TOPMed gnomAD
CA394258807 rs1597030688	54	T>N		No	ClinGen Ensembl
rs1350616058 CA394258814	54	T>S		No	ClinGen TOPMed
TCGA novel	55	H>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1361819666 CA394258802	55	H>N		No	ClinGen gnomAD
CA7823081 rs200408341	55	H>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs751649956 CA7823080	57	L>P		No	ClinGen ExAC gnomAD
rs957909033 CA276741578	57	L>V		No	ClinGen Ensembl
rs758648302 CA394258730	58	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7823078 rs758648302	58	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369296013 CA7823079	58	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7823077 rs752898457	59	E>K		No	ClinGen ExAC gnomAD
rs765471810 CA7823076	60	V>L		No	ClinGen ExAC gnomAD
CA276741573 rs985406104	61	H>R		No	ClinGen TOPMed
CA7823075 rs553116903	61	H>Y		No	ClinGen 1000Genomes ExAC gnomAD
CA394258650 rs767010403	62	R>P		No	ClinGen ExAC TOPMed gnomAD
CA7823073 rs767010403	62	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs369382555 CA7823074	62	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1030148398 CA276741569	63	P>A		No	ClinGen TOPMed
rs577398510 CA7823071	63	P>L		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs577398510 CA7823072	63	P>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7823036 rs371373659	70	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs766268562 CA7823037	70	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1242570331 CA394258347	71	E>K		No	ClinGen gnomAD
CA394258322 rs1474989211	72	E>D		No	ClinGen TOPMed
CA7823034 rs768141508	72	E>K		No	ClinGen ExAC gnomAD
rs762323477 CA7823033	72	E>V		No	ClinGen ExAC gnomAD
rs1186130838 CA394258317	73	V>M		No	ClinGen TOPMed
CA7823032 rs752168626	74	E>G		No	ClinGen ExAC TOPMed gnomAD
rs149203472 CA7823031	75	A>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7823030 rs140185678	75	A>V		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1301755593 CA394258257	77	T>P		No	ClinGen gnomAD
rs1161502084 CA394258219	79	V>A		No	ClinGen gnomAD
TCGA novel	80	E>*	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7823027 rs146965945	81	T>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201602086 CA7823023	82	P>A		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs768832551 CA7823022	82	P>L		No	ClinGen ExAC TOPMed gnomAD
rs201602086 CA7823024	82	P>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1018083984 CA276741060	83	P>A		No	ClinGen TOPMed gnomAD
rs1018083984 CA394258169	83	P>S		No	ClinGen TOPMed gnomAD
CA394258155 rs1377524431	84	L>P		No	ClinGen gnomAD
CA394258159 rs1207539799	84	L>V		No	ClinGen gnomAD
COSM3936957 CA7823017 rs781647272	86	V>M	oesophagus [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs1374413129 CA394258126	87	V>L		No	ClinGen TOPMed gnomAD
CA7823012 rs902520658	88	G>A		No	ClinGen TOPMed
rs902520658 CA7823011	88	G>D		No	ClinGen TOPMed
CA7823014 rs541782837	88	G>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7823009 rs753338989	89	V>M		No	ClinGen ExAC gnomAD
rs1174768660 CA394258086	90	V>L		No	ClinGen TOPMed
rs1160999089 CA394258081	91	G>S		No	ClinGen gnomAD
CA7823007 rs572399683	91	G>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7823004 rs761492682	93	V>M	Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs118144581 CA7823003	94	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs768473696 CA7823002	94	A>V		No	ClinGen ExAC TOPMed gnomAD
CA276740997 rs1027002875	96	P>H		No	ClinGen TOPMed
COSM434780 rs1027002875 CA394258050	96	P>L	Variant assessed as Somatic; impact. breast [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated NCI-TCGA TOPMed
CA7823001 rs749384533	96	P>S		No	ClinGen ExAC gnomAD
rs762972972 CA7823000	97	R>*		No	ClinGen ExAC TOPMed gnomAD
CA276740981 rs199937754	97	R>P		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
COSM3402130 rs199937754 CA7822999	97	R>Q	central_nervous_system [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
CA7822997 rs370167593	99	L>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA394258038 rs1273312101	99	L>P		No	ClinGen gnomAD
CA7822994 rs201933733	100	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs757685943 CA7822996	100	R>W		No	ClinGen ExAC TOPMed gnomAD
rs1204827095 CA394258029	101	S>T		No	ClinGen TOPMed
rs758776913 CA7822992	102	F>L		No	ClinGen ExAC TOPMed gnomAD
CA394258022 rs1300083650	102	F>V		No	ClinGen gnomAD
CA394258016 rs1453349603	103	K>E		No	ClinGen TOPMed
CA7822990 rs765837446	105	I>T		No	ClinGen ExAC gnomAD
CA7822991 rs753372155	105	I>V		No	ClinGen ExAC gnomAD
CA276740959 rs1045155182	106	F>C		No	ClinGen Ensembl
CA7822989 rs755593294	106	F>L		No	ClinGen ExAC gnomAD
CA276740958 rs750126938	107	A>S		No	ClinGen ExAC TOPMed gnomAD
CA7822988 rs750126938	107	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394257986 rs1263320255	108	E>A		No	ClinGen gnomAD
CA7822986 rs761735308	108	E>K		No	ClinGen ExAC TOPMed gnomAD
rs1567311986 CA394257960	111	S>R		No	ClinGen Ensembl
CA276740955 rs535291876	112	D>G		No	ClinGen Ensembl
CA7822985 rs773950646	112	D>Y		No	ClinGen ExAC gnomAD
rs1484885469 CA394257943	114	C>S		No	ClinGen gnomAD
rs1241441338 CA394257938	114	C>W		No	ClinGen gnomAD
rs1567311979 CA394257942 COSM178297	114	C>Y	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated Ensembl NCI-TCGA
CA394257936 rs181595812	115	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822983 rs181595812	115	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs200615645 CA7822984	115	R>W		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822981 rs369669042	116	R>C		No	ClinGen ESP ExAC TOPMed
rs369669042 CA7822982	116	R>G		No	ClinGen ESP ExAC TOPMed
CA7822977 rs776967324	117	R>*		No	ClinGen ExAC TOPMed gnomAD
CA7822976 rs144165819	117	R>Q		No	ClinGen ESP ExAC TOPMed gnomAD
rs867033079 CA276740936	119	Y>C		No	ClinGen TOPMed gnomAD
rs979096869 CA276740935	120	K>R		No	ClinGen gnomAD
rs931640455 CA276740932	121	D>E		No	ClinGen TOPMed
CA394257328 rs540319038	123	H>Q		No	ClinGen 1000Genomes ExAC gnomAD
CA394257342 rs1389366475	123	H>Y		No	ClinGen gnomAD
CA7822941 rs760790279	125	S>G		No	ClinGen ExAC gnomAD
CA7822940 rs773367998	125	S>N		No	ClinGen ExAC gnomAD
rs375794746 CA7822939	126	K>R		No	ClinGen ESP ExAC gnomAD
rs967129764 CA276739897	127	K>M		No	ClinGen TOPMed
CA276739900 rs967129764	127	K>R		No	ClinGen TOPMed
CA394257230 rs1381988382	129	A>G		No	ClinGen gnomAD
CA394257209 rs1238554210	131	T>A		No	ClinGen TOPMed
CA7822935 rs769175427	135	K>E		No	ClinGen ExAC TOPMed gnomAD
rs1021322167 CA276739880	137	W>R		No	ClinGen Ensembl
rs140887504 CA7822932	138	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1489884388 CA394257126	138	R>W		No	ClinGen gnomAD
rs1218037112 CA394257113	139	D>A		No	ClinGen gnomAD
rs1340021144 CA394257082	142	G>R		No	ClinGen TOPMed gnomAD
rs1259396878 CA394257044	145	Q>*		No	ClinGen gnomAD
CA7822930 rs746514363	145	Q>R		No	ClinGen ExAC TOPMed gnomAD
CA7822928 rs758052886	147	Q>*		No	ClinGen ExAC TOPMed gnomAD
CA394257011 rs1343135190	148	K>E		No	ClinGen gnomAD
rs373443605 CA276739869	148	K>N		No	ClinGen gnomAD
rs747967218 CA7822927	148	K>R		No	ClinGen ExAC gnomAD
rs201908489 CA7822926	149	D>N		No	ClinGen ExAC TOPMed gnomAD
CA7822924 rs200927090	151	A>T	Variant assessed as Somatic; 0.000231 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs555349951 CA7822922	152	A>T		No	ClinGen ExAC TOPMed gnomAD
CA394256960 rs1268330613	153	M>V		No	ClinGen gnomAD
CA7822920 rs767741903	155	K>*		No	ClinGen ExAC gnomAD
rs1489594053 CA394256928	155	K>R		No	ClinGen TOPMed gnomAD
CA7822918 rs761976111	156	Y>D		No	ClinGen ExAC gnomAD
rs761976111 CA394256920	156	Y>H		No	ClinGen ExAC gnomAD
CA7822917 rs774727364	157	C>R	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs144536720 CA7822916	158	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394256887 rs1410602364	159	V>F		No	ClinGen TOPMed gnomAD
CA7822913 rs770326098	160	I>M		No	ClinGen ExAC TOPMed gnomAD
rs143544112 CA394256872	161	R>G		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs772787989 CA7822911	161	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs1425194043 CA394256859	162	V>A		No	ClinGen TOPMed
CA394256856 rs747846002	163	I>F		No	ClinGen ExAC TOPMed gnomAD
CA7822909 rs747846002	163	I>V		No	ClinGen ExAC TOPMed gnomAD
rs1472242873 CA394256832	165	H>R		No	ClinGen TOPMed gnomAD
rs754791986 CA7822907	166	T>I		No	ClinGen ExAC gnomAD
CA7822906 rs144318954	167	Q>L		No	ClinGen ESP ExAC gnomAD
CA7822905 rs144318954	167	Q>R		No	ClinGen ESP ExAC gnomAD
CA7822862 rs758578298	168	M>I		No	ClinGen ExAC gnomAD
rs1381362658 CA394255889	168	M>T		No	ClinGen gnomAD
CA7822861 rs375617582	169	K>Q		No	ClinGen ESP ExAC gnomAD
COSM1723697 CA7822859 rs755464200	172	P>L	NS [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
rs778992362 CA7822860	172	P>S		No	ClinGen ExAC TOPMed gnomAD
rs754193480 CA7822858	173	F>L		No	ClinGen ExAC gnomAD
CA7822856 COSM1708626 rs199748227	174	R>Q	Variant assessed as Somatic; 5.766e-05 impact. skin [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ESP ExAC NCI-TCGA TOPMed gnomAD
CA7822857 rs34478455	174	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822854 rs763702694	175	Q>H		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	175	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs868621794 CA276734303	175	Q>R		No	ClinGen Ensembl
CA394255798 rs1279206174	177	K>E		No	ClinGen gnomAD
CA276734291 rs368169793	178	A>V		No	ClinGen ESP TOPMed gnomAD
rs762345331 CA7822853	179	H>N		No	ClinGen ExAC gnomAD
CA394255776 rs762345331	179	H>Y		No	ClinGen ExAC gnomAD
CA394255762 rs1404297483	180	I>M		No	ClinGen TOPMed
rs926901161 CA276734279	180	I>V		No	ClinGen TOPMed
rs1361725464 CA394255752	181	M>T		No	ClinGen gnomAD
CA394255759 rs1404932891	181	M>V		No	ClinGen gnomAD
CA394255744 rs1567309621	182	E>K		No	ClinGen Ensembl
rs764864813 CA7822850	184	Q>*		No	ClinGen ExAC gnomAD
rs764864813 CA7822851	184	Q>K		No	ClinGen ExAC gnomAD
CA7822847 rs139587023	187	G>S	Variant assessed as Somatic; 0.0002445 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
CA7822845 rs146305648	188	G>S		No	ClinGen ESP ExAC TOPMed gnomAD
CA276734223 rs972907705	189	T>A		No	ClinGen TOPMed gnomAD
rs529402885 CA7822839	191	A>V		No	ClinGen 1000Genomes ExAC gnomAD
CA7822837 rs200381331	192	E>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs1325900030 CA394255628	192	E>V		No	ClinGen gnomAD
rs1281529064 CA394255608	194	V>M		No	ClinGen gnomAD
rs372589936 CA7822836	195	A>V		No	ClinGen ExAC gnomAD
CA394255575 rs201311045	197	A>S		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA7822835 rs201311045	197	A>T		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276734179 rs200217046	197	A>V		No	ClinGen TOPMed
CA276734176 rs964380849	198	Q>*		No	ClinGen TOPMed gnomAD
CA7822833 rs199827906	198	Q>H		No	ClinGen ExAC TOPMed gnomAD
CA7822834 rs757992262	198	Q>R		No	ClinGen ExAC gnomAD
CA394255559 rs1470045770	199	A>P		No	ClinGen gnomAD
rs1470045770 CA394255560	199	A>T		No	ClinGen gnomAD
CA276734158 rs372425283	199	A>V		No	ClinGen ESP TOPMed gnomAD
rs376228564 CA7822832	200	R>G		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822829 RCV000888293 rs141796888	200	R>Q		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7822831 rs376228564	200	R>W		No	ClinGen ESP ExAC TOPMed gnomAD
rs138721490 CA276734098	201	L>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
CA394255507 rs1479833309	204	Q>*		No	ClinGen gnomAD
rs760362853 CA7822827	206	P>L		No	ClinGen ExAC TOPMed gnomAD
CA394255479 rs150702541	207	V>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822826 rs150702541	207	V>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822824 rs771841830	209	S>G		No	ClinGen ExAC gnomAD
rs376851295 CA7822823	209	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
rs769032020 CA394255445	210	V>L		No	ClinGen ExAC TOPMed gnomAD
rs769032020 CA7822821	210	V>M		No	ClinGen ExAC TOPMed gnomAD
TCGA novel	211	F>L	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1297770171 CA394255431	211	F>S		No	ClinGen gnomAD
CA7822820 rs141998697	212	S>T		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822819 rs780403723	213	Q>E		No	ClinGen ExAC gnomAD
rs1285222055 CA394255411	213	Q>R		No	ClinGen TOPMed gnomAD
rs939464397 CA276733962	214	S>N		No	ClinGen Ensembl
CA394255380 rs1404297069	215	E>D		No	ClinGen TOPMed gnomAD
rs1054276540 CA276733950	215	E>K		No	ClinGen TOPMed
CA276733908 rs915360351	220	I>T		No	ClinGen TOPMed
CA276733875 rs975003825	224	K>E		No	ClinGen Ensembl
CA7822810 rs754451451	226	R>*	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA7822809 rs75401081	226	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822806 rs750130820	228	V>A		No	ClinGen ExAC gnomAD
CA7822807 rs370738863	228	V>I		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394255188 rs1567309358	230	G>E		No	ClinGen Ensembl
CA394255227 rs1320578043	230	G>W		No	ClinGen TOPMed
CA7822783 rs188057322	231	V>A		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394255177 rs188057322	231	V>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1157241329 CA394255181	231	V>I		No	ClinGen gnomAD
rs141243630 CA7822781	232	T>I		No	ClinGen ESP ExAC TOPMed gnomAD
rs141243630 CA7822780	232	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822779 rs775652929	233	S>N		No	ClinGen ExAC gnomAD
CA7822777 rs759633216	234	R>C		No	ClinGen ExAC TOPMed gnomAD
rs201191762 CA7822775	234	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs201191762 CA7822776	234	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822778 rs759633216	234	R>S		No	ClinGen ExAC TOPMed gnomAD
CA394255127 rs915430401	236	H>L		No	ClinGen gnomAD
CA276733661 rs915430401	236	H>R		No	ClinGen gnomAD
CA394255130 rs1329693220	236	H>Y		No	ClinGen TOPMed
rs1597025539 CA394255109	238	K>E		No	ClinGen Ensembl
CA7822771 rs748822456	241	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7822767 rs568874974	242	R>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs147972626 CA7822768 RCV000890920	242	R>W		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7822766 rs757187905	245	H>Y		No	ClinGen ExAC TOPMed gnomAD
CA7822765 rs751331793	246	K>E		No	ClinGen ExAC TOPMed gnomAD
CA394255022 rs1286880803	246	K>N		No	ClinGen gnomAD
CA7822764 rs764139595	247	G>D		No	ClinGen ExAC gnomAD
CA7822763 rs758361406 COSM346441	249	R>C	lung [Cosmic]	No	ClinGen cosmic curated ExAC gnomAD
CA7822761 rs149043671	249	R>H	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7822762 rs149043671	249	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs386787785 CA276733549	252	A>L		No	ClinGen Ensembl
rs1430787960 CA394254954	253	C>*		No	ClinGen gnomAD
TCGA novel	253	C>S	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs150384057 CA7822758	256	A>P		No	ClinGen ESP ExAC TOPMed gnomAD
rs150384057 CA7822759 COSM1737805	256	A>T	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
CA7822757 rs761042306	257	W>*		No	ClinGen ExAC gnomAD
CA394254925 rs1263383714	257	W>R		No	ClinGen gnomAD
rs919560103 CA276733527	258	H>L		No	ClinGen TOPMed gnomAD
COSM1518461 rs773518061 CA394254901	258	H>Q	lung Variant assessed as Somatic; impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated ExAC NCI-TCGA TOPMed gnomAD
CA7822754 rs748693864	259	P>L		No	ClinGen ExAC TOPMed gnomAD
CA7822755 rs772598970	259	P>S		No	ClinGen ExAC gnomAD
CA7822751 rs140373999	260	A>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822750 rs140373999	260	A>T		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1406471711 CA394254865	260	A>V		No	ClinGen TOPMed gnomAD
CA7822748 rs756908767	261	R>C		No	ClinGen ExAC TOPMed gnomAD
CA7822747 COSM1740269 rs370640499	261	R>H	haematopoietic_and_lymphoid_tissue [Cosmic]	No	ClinGen cosmic curated ESP ExAC TOPMed gnomAD
rs752624571 CA7822744	262	V>A		No	ClinGen ExAC TOPMed gnomAD
rs113956264 CA7822745	262	V>M		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1445638539 CA394254825	263	G>D	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen NCI-TCGA gnomAD
rs199881252 CA7822741	264	C>F		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA276733472 rs1039258875	265	S>F		No	ClinGen Ensembl
CA394254784 rs1164097136	265	S>P		No	ClinGen TOPMed
CA394254761 rs1462143248	266	I>M		No	ClinGen gnomAD
rs766534163 CA7822740	266	I>V		No	ClinGen ExAC gnomAD
CA7822737 rs142332527	268	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822736 rs142332527	268	R>Q		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822738 rs773393186	268	R>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
rs1567309204 CA394254734	269	A>P		No	ClinGen Ensembl
CA276733413 rs564278385 COSM967963	270	G>R	Variant assessed as Somatic; 0.0 impact. endometrium [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated 1000Genomes NCI-TCGA TOPMed gnomAD
rs1315223868 CA394254709	271	Q>P		No	ClinGen TOPMed
CA394254698 rs1380803091	272	K>E		No	ClinGen TOPMed
CA7822734 rs769143238	274	Y>C		No	ClinGen ExAC gnomAD
rs758978773 CA7822733	275	H>D		No	ClinGen ExAC gnomAD
CA394254653 rs1396264126	275	H>R		No	ClinGen TOPMed
CA7822732 rs776154773	276	H>Y		No	ClinGen ExAC
CA7822730 rs144221138	277	R>C		No	ClinGen ESP ExAC TOPMed gnomAD
rs376186576 CA7822728	277	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822729 rs376186576	277	R>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394254611 rs149645742	278	T>K		No	ClinGen ESP ExAC TOPMed gnomAD
rs149645742 CA7822727	278	T>M		No	ClinGen ESP ExAC TOPMed gnomAD
CA394254609 rs149645742	278	T>R		No	ClinGen ESP ExAC TOPMed gnomAD
rs1394359502 CA394254604	279	E>*		No	ClinGen gnomAD
rs778718587 CA7822725	281	N>H		No	ClinGen ExAC gnomAD
rs1453304901 CA394254556	282	K>E		No	ClinGen TOPMed gnomAD
CA276733365 rs1046516289	282	K>N		No	ClinGen TOPMed
CA7822724 rs754897318	283	K>Q		No	ClinGen ExAC TOPMed gnomAD
CA7822692 rs767311153	284	I>S		No	ClinGen ExAC gnomAD
rs1386001220 CA394253863	284	I>V		No	ClinGen gnomAD
CA7822691 COSM1376276 rs374470658	286	R>C	large_intestine [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
CA7822689 rs147512517	286	R>H		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822690 rs147512517	286	R>L		No	ClinGen ESP ExAC TOPMed gnomAD
rs749037473 CA7822688	287	I>V		No	ClinGen ExAC TOPMed gnomAD
rs550817203 CA7822686	288	G>S	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ExAC NCI-TCGA TOPMed gnomAD
CA394253798 rs1597025193	289	R>G		No	ClinGen Ensembl
rs745966649 CA7822685	289	R>K		No	ClinGen ExAC TOPMed gnomAD
rs1267758005 CA394253782	290	G>V		No	ClinGen gnomAD
VAR_034461 CA7822682 rs34265469	291	P>L		No	ClinGen UniProt 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
CA7822683 rs34265469	291	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394253750 rs1281421507	292	H>Q		No	ClinGen gnomAD
rs1219215702 CA394253744	293	M>V		No	ClinGen gnomAD
TCGA novel	294	E>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7822680 rs758863941	294	E>K		No	ClinGen ExAC TOPMed gnomAD
CA7822679 rs753042795	295	D>N		No	ClinGen ExAC gnomAD
CA7822677 rs145928459	296	G>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394253697 rs145928459	296	G>W	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	298	L>M	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA394253655 rs1284845407	299	V>A		No	ClinGen TOPMed
rs145900208 CA276732987	300	K>R		No	ClinGen ESP TOPMed
CA7822675 rs767104948	301	N>H		No	ClinGen ExAC gnomAD
CA7822674 rs200283498	302	N>S		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394253587 rs1597025144	304	S>P		No	ClinGen Ensembl
rs774123802 CA7822673	305	T>I		No	ClinGen ExAC gnomAD
CA394253576 rs1597025142	305	T>P		No	ClinGen Ensembl
rs1413908223 CA394253551	306	S>R		No	ClinGen TOPMed gnomAD
rs763590053 CA7822672	307	Y>N		No	ClinGen ExAC gnomAD
CA7822669 rs769752391	309	V>M		No	ClinGen ExAC TOPMed gnomAD
rs1184483962 CA394253471	312	K>R		No	ClinGen TOPMed gnomAD
rs373826913 CA7822667	314	I>L		No	ClinGen 1000Genomes ESP ExAC gnomAD
TCGA novel	314	I>T	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs373826913 CA7822668	314	I>V		No	ClinGen 1000Genomes ESP ExAC gnomAD
rs969214638 CA276732954	315	T>A		No	ClinGen TOPMed gnomAD
rs771096525 CA7822666	315	T>I		No	ClinGen ExAC gnomAD
CA7822664 rs370382361	316	P>L		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822665 rs747055015	316	P>S		No	ClinGen ExAC TOPMed gnomAD
CA394253445 rs1364971475	317	L>P		No	ClinGen gnomAD
rs767009859 CA7822629	318	G>S		No	ClinGen ExAC gnomAD
rs1247649177 CA394253387	321	P>H	Variant assessed as Somatic; impact. [NCI-TCGA]	No	ClinGen NCI-TCGA TOPMed
CA394253385 COSM1518462 rs143428526	322	H>N	lung Variant assessed as Somatic; 0.0 impact. [Cosmic, NCI-TCGA]	No	ClinGen cosmic curated 1000Genomes ESP ExAC NCI-TCGA TOPMed gnomAD
CA7822626 rs772337778	322	H>R		No	ClinGen ExAC gnomAD
CA7822627 rs143428526	322	H>Y		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs142842559 CA394253368	323	Y>*		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs892751911 CA394253369	323	Y>C		No	ClinGen gnomAD
CA276732332 rs892751911	323	Y>F		No	ClinGen gnomAD
rs375754739 CA7822624	324	G>R		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822621 rs761256639	328	N>D		No	ClinGen ExAC TOPMed gnomAD
CA7822619 rs372735084	329	D>N		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822618 rs781712085	329	D>V		No	ClinGen ExAC gnomAD
CA7822614 rs146742423	331	V>F		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822615 rs146742423	331	V>I	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
rs1340022393 CA394253266	332	M>I		No	ClinGen gnomAD
rs374734888 CA7822613	332	M>V		No	ClinGen ESP ExAC gnomAD
rs144882755 CA7822611	334	K>N		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1263193899 CA394253251	334	K>T		No	ClinGen gnomAD
CA7822610 rs767496876	336	C>F		No	ClinGen ExAC TOPMed gnomAD
CA7822609 rs767496876	336	C>Y		No	ClinGen ExAC TOPMed gnomAD
CA7822608 rs762001999	337	I>M		No	ClinGen ExAC gnomAD
CA394253224 rs1371363012	337	I>V		No	ClinGen TOPMed
CA394253212 rs147948209	338	A>D		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822607 rs147948209	338	A>G		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1367032629 CA394253216	338	A>S		No	ClinGen TOPMed gnomAD
rs1283672770 CA394253204	339	G>D		No	ClinGen gnomAD
rs1220663436 CA394253208	339	G>S		No	ClinGen TOPMed
CA7822606 rs764444357	340	T>A		No	ClinGen ExAC gnomAD
rs1597024610 CA394253188	341	K>E		No	ClinGen Ensembl
CA394253168 rs1567308541	342	K>N		No	ClinGen Ensembl
rs770112620 CA7822602	343	R>Q		No	ClinGen ExAC TOPMed gnomAD
rs777123401 CA7822600	344	V>A		No	ClinGen ExAC gnomAD
rs746236146 CA7822601 COSM1376272	344	V>F	Variant assessed as Somatic; 0.0 impact. large_intestine [NCI-TCGA, Cosmic]	No	ClinGen cosmic curated ExAC NCI-TCGA gnomAD
CA7822599 rs771369362	345	I>V		No	ClinGen ExAC TOPMed gnomAD
CA394252852 rs1464150172	346	T>A		No	ClinGen gnomAD
rs541904197 COSM1224217 CA7822598	346	T>M	large_intestine [Cosmic]	No	ClinGen cosmic curated 1000Genomes ExAC TOPMed gnomAD
rs1397272896 CA394252827	348	R>G		No	ClinGen gnomAD
rs779586468 CA7822577	350	S>F	Variant assessed as Somatic; 0.0 impact. [NCI-TCGA]	No	ClinGen ExAC NCI-TCGA TOPMed gnomAD
CA394252692 rs1339992461	351	L>P		No	ClinGen gnomAD
CA394252671 rs1597024461	353	V>G		No	ClinGen Ensembl
rs745693162 CA394252676	353	V>L		No	ClinGen ExAC TOPMed gnomAD
rs745693162 CA7822575	353	V>M		No	ClinGen ExAC TOPMed gnomAD
CA7822574 rs149805239	354	H>Y		No	ClinGen ESP ExAC TOPMed gnomAD
CA7822573 rs757098399	355	H>Q		No	ClinGen ExAC gnomAD
CA7822572 rs751602271	357	R>C		No	ClinGen ExAC gnomAD
rs374360894 CA7822571	357	R>H	Variant assessed as Somatic; 9.252e-05 impact. [NCI-TCGA]	No	ClinGen ESP ExAC NCI-TCGA TOPMed gnomAD
TCGA novel	359	A>D	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs1471595283 CA394252590	359	A>T		No	ClinGen TOPMed gnomAD
CA394252576 CA7822568 rs140116056	360	V>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA7822567 RCV000966446 rs140116056	360	V>M		No	ClinGen ClinVar 1000Genomes ESP ExAC TOPMed dbSNP gnomAD
rs377762078 CA276731836	362	N>D		No	ClinGen ESP TOPMed gnomAD
CA7822565 rs766778833	363	I>V		No	ClinGen ExAC gnomAD
CA394252533 rs1204558466	364	E>K		No	ClinGen TOPMed
rs1291728527 CA394252503	366	K>E		No	ClinGen gnomAD
CA7822563 rs771397612	368	I>M		No	ClinGen ExAC gnomAD
rs1355907072 CA394252481	368	I>T		No	ClinGen gnomAD
rs151040206 CA276731831	368	I>V		No	ClinGen ESP TOPMed
CA276731818 rs1032709481	370	T>N		No	ClinGen Ensembl
rs1348659334 CA394252463	371	T>N		No	ClinGen gnomAD
CA394252456 rs1268400722	372	S>C		No	ClinGen TOPMed
rs772575612 CA7822562	374	F>V		No	ClinGen ExAC gnomAD
CA7822560 rs775028198	375	G>V		No	ClinGen ExAC gnomAD
rs769158224 CA7822559	376	H>R		No	ClinGen ExAC gnomAD
COSM3764543 CA7822558 rs745568614	378	R>C	central_nervous_system [Cosmic]	No	ClinGen cosmic curated ExAC TOPMed gnomAD
rs146128512 CA7822557	378	R>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs146128512 CA276731787	378	R>P		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
CA394252380 rs745568614	378	R>S		No	ClinGen ExAC TOPMed gnomAD
rs1473302892 CA394252310	382	A>V		No	ClinGen gnomAD
rs1181423220 CA394252306	383	Q>E		No	ClinGen gnomAD
TCGA novel	383	Q>R	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
CA7822556 rs199859922	384	E>Q		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
rs1248309312 CA394252282	385	K>Q		No	ClinGen gnomAD
rs1390621234 CA394252076	391	P>S		No	ClinGen TOPMed gnomAD
CA394252055 rs147548241	392	Q>H		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
TCGA novel	392	Q>K	Variant assessed as Somatic; impact. [NCI-TCGA]	No	NCI-TCGA
rs199615999 CA7822528	392	Q>R		No	ClinGen 1000Genomes ExAC TOPMed gnomAD
CA394252033 rs1389800050	394	K>E		No	ClinGen gnomAD
rs756290709 CA7822526	395	H>Q		No	ClinGen ExAC gnomAD
CA7822524 rs767976395	400	T>M		No	ClinGen ExAC TOPMed gnomAD
CA7822522 rs143300441	401	P>L		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs143300441 CA7822523	401	P>R		No	ClinGen 1000Genomes ESP ExAC TOPMed gnomAD
rs1277308150 CA394251924	402	E>G		No	ClinGen gnomAD
rs1597023846 CA394251896	404	S>L		No	ClinGen Ensembl
CA394251850 rs1380775714	408	L>Q		No	ClinGen gnomAD
rs374688036 CA7822516	408	L>W		No	ClinGen ESP ExAC TOPMed gnomAD

1 associated diseases with Q92901

[MIM: 619371]: Cardiomyopathy, dilated 2D (CMD2D)

A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. {ECO:0000269|PubMed:32514796, ECO:0000269|PubMed:32870709}. Note=The disease may be caused by variants affecting the gene represented in this entry.

Without disease ID

A form of dilated cardiomyopathy, a disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. CMD2D is an autosomal recessive, severe form with neonatal onset. {ECO:0000269|PubMed:32514796, ECO:0000269|PubMed:32870709}. Note=The disease may be caused by variants affecting the gene represented in this entry.

1 regional properties for Q92901

Type	Name	Position	InterPro Accession
conserved_site	Ribosomal protein L24e, conserved site	8 - 25	IPR023442

Functions

		Description
EC Number
Subcellular Localization
PANTHER Family
PANTHER Subfamily
PANTHER Protein Class
PANTHER Pathway Category	No pathway information available

3 GO annotations of cellular component

Name	Definition
cytosolic large ribosomal subunit	The large subunit of a ribosome located in the cytosol.
membrane	A lipid bilayer along with all the proteins and protein complexes embedded in it an attached to it.
ribosome	An intracellular organelle, about 200 A in diameter, consisting of RNA and protein. It is the site of protein biosynthesis resulting from translation of messenger RNA (mRNA). It consists of two subunits, one large and one small, each containing only protein and RNA. Both the ribosome and its subunits are characterized by their sedimentation coefficients, expressed in Svedberg units (symbol: S). Hence, the prokaryotic ribosome (70S) comprises a large (50S) subunit and a small (30S) subunit, while the eukaryotic ribosome (80S) comprises a large (60S) subunit and a small (40S) subunit. Two sites on the ribosomal large subunit are involved in translation, namely the aminoacyl site (A site) and peptidyl site (P site). Ribosomes from prokaryotes, eukaryotes, mitochondria, and chloroplasts have characteristically distinct ribosomal proteins.

2 GO annotations of molecular function

Name	Definition
RNA binding	Binding to an RNA molecule or a portion thereof.
structural constituent of ribosome	The action of a molecule that contributes to the structural integrity of the ribosome.

1 GO annotations of biological process

Name	Definition
translation	The cellular metabolic process in which a protein is formed, using the sequence of a mature mRNA or circRNA molecule to specify the sequence of amino acids in a polypeptide chain. Translation is mediated by the ribosome, and begins with the formation of a ternary complex between aminoacylated initiator methionine tRNA, GTP, and initiation factor 2, which subsequently associates with the small subunit of the ribosome and an mRNA or circRNA. Translation ends with the release of a polypeptide chain from the ribosome.

3 homologous proteins in AiPD

UniProt AC	Gene Name	Protein Name	Species	Evidence Code
P39023	RPL3	60S ribosomal protein L3	Homo sapiens (Human)	PR
P27659	Rpl3	60S ribosomal protein L3	Mus musculus (Mouse)	PR
P21531	Rpl3	60S ribosomal protein L3	Rattus norvegicus (Rat)	PR

10	20	30	40	50	60
MSHRKFSAPR	HGHLGFLPHK	RSHRHRGKVK	TWPRDDPSQP	VHLTAFLGYK	AGMTHTLREV
70	80	90	100	110	120
HRPGLKISKR	EEVEAVTIVE	TPPLVVVGVV	GYVATPRGLR	SFKTIFAEHL	SDECRRRFYK
130	140	150	160	170	180
DWHKSKKKAF	TKACKRWRDT	DGKKQLQKDF	AAMKKYCKVI	RVIVHTQMKL	LPFRQKKAHI
190	200	210	220	230	240
MEIQLNGGTV	AEKVAWAQAR	LEKQVPVHSV	FSQSEVIDVI	AVTKGRGVKG	VTSRWHTKKL
250	260	270	280	290	300
PRKTHKGLRK	VACIGAWHPA	RVGCSIARAG	QKGYHHRTEL	NKKIFRIGRG	PHMEDGKLVK
310	320	330	340	350	360
NNASTSYDVT	AKSITPLGGF	PHYGEVNNDF	VMLKGCIAGT	KKRVITLRKS	LLVHHSRQAV
370	380	390	400
ENIELKFIDT	TSKFGHGRFQ	TAQEKRAFMG	PQKKHLEKET	PETSGDL