ConVarT

NOL3 (GeneID: 8996) | Homo sapiens

Description:	nucleolar protein 3 [Source:HGNC Symbol;Acc:HGNC:7869]
Synonyms:	NOP, ARC, MYP, NOP30, FCM
Other ID(s):	HGNC:7869, ENSG00000140939
Protein Accession Numbers:	ENST00000565560, NP_001263248, NP_001263238, ENST00000564053, ENST00000568146, ENST00000432069, ENST00000564992, NP_001263241, NP_001263236, ENST00000563439, ENST00000566871, NP_003937, ENST00000268605, ENST00000564860, NP_001263240, NP_001171986, ENST00000563258
Statistics:	ClinVar(5) PTM(8)

ClinVar Pathogenicity of Variations

Benign

Pathogenic

VUS

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000432069 ENST00000563258 ENST00000563439 ENST00000564053 ENST00000564860 ENST00000564992 ENST00000565560 ENST00000566871 ENST00000568146 NP_001171986 NP_001263236 NP_001263238 NP_001263240 NP_001263241 NP_001263248 NP_003937 ">ENST00000268605 You are here now!

ClinVar Data

Show entries

Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic
39803	48402	rs397514600	single nucleotide variant	NM_003946.7(NOL3):c.61G>C (p.Glu21Gln)	p.Glu21Gln	Pathogenic	Myoclonus, familial 1	no assertion criteria provided	RCV000033024
710884	726734	rs200144674	single nucleotide variant	NM_003946.7(NOL3):c.342G>C (p.Thr114=)	p.Arg73Pro	Likely benign	not provided	criteria provided, single submitter	RCV000882553
717334	726733	rs2233458	single nucleotide variant	NM_003946.7(NOL3):c.331G>A (p.Gly111Ser)	p.Gln69=	Likely benign	not provided	criteria provided, single submitter	RCV000890108
808057	797353	rs1355406849	single nucleotide variant	NM_003946.7(NOL3):c.555G>A (p.Pro185=)	p.Arg144Gln	Uncertain significance	not provided	criteria provided, single submitter	RCV000996284
1033400	1021496	N/A	single nucleotide variant	NM_003946.7(NOL3):c.383C>A (p.Pro128His)	p.Pro87Thr	Uncertain significance	Myoclonus, familial 1	criteria provided, single submitter	RCV001335800

Showing 1 to 5 of 5 entries

gnomAD

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber	Flags	Filter
No data available in table

Showing 0 to 0 of 0 entries

Post-translational Modifications (PTMs)

Show entries

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID
NOL3	O60936	Phosphorylation	104	S104-p	GPGYRDRsyDPPCPG	22.63	18006736
NOL3	O60936	Phosphorylation	105	Y105-p	PGYRDRsyDPPCPGH	22.63	4774952
NOL3	O60936	Phosphorylation	114	T114-p	PPCPGHWtPEAPGsG	22.63	477982
NOL3	O60936	Phosphorylation	120	S120-p	WtPEAPGsGttCPGL	22.63	18006739
NOL3	O60936	Phosphorylation	122	T122-p	PEAPGsGttCPGLPR	22.63	18006742
NOL3	O60936	Phosphorylation	123	T123-p	EAPGsGttCPGLPRA	22.63	18006745
NOL3	O60936	Phosphorylation	149	T149-p	SEAVQSGtPEEPEPE	22.63	448618
NOL3	O60936	Phosphorylation	162	S162-p	PELEAEAsKEAEPEP	22.63	36129749

Showing 1 to 8 of 8 entries

Catalogue of Somatic Mutations in Cancer (COSMIC)

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position

dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
PF00619	CARD	Caspase recruitment domain	9-96	CL0041	Death	Homo sapiens

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Mitochondrial Diseases	Nutritional and Metabolic Diseases ;	0.667	0.552
Electron Transport Chain Deficiencies, Mitochondrial	Nutritional and Metabolic Diseases ;	0.667	0.552
Oxidative Phosphorylation Deficiencies	Nutritional and Metabolic Diseases ;	0.667	0.552
Mitochondrial Respiratory Chain Deficiencies	Nutritional and Metabolic Diseases ;	0.667	0.552
MYOCLONUS, FAMILIAL CORTICAL	N/A	0.667	0.552
NO RESULT FOUND