Results for the protein: P55072

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Database Statistics

Results for the Protein: P55072

6094447

7415

VCP

NCBI, UniProt

TERA_HUMAN RecName: Full=Transitional endoplasmic reticulum ATPase; Short=TER ATPase; AltName: Full=15S Mg(2+)-ATPase p97 subunit; AltName: Full=Valosin-containing protein; Short=VCP

Known Diseases associated with this Protein:
  AMYOTROPHIC LATERAL SCLEROSIS 14 WI
  AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA
  AMYOTROPHIC LATERAL SCLEROSIS 14, WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA (ALS14)
  DEMENTIA
  INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL
  INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA 1 (IBMPFD1)

18

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9

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9

Tips:

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Default View: CDC48_N - pfam02359 HflB - COG0465 RPT1 - COG1222 CDC48_2 - pfam02933 AAA - cd00009 SpoVK - COG0464 AAA_2 - pfam07724 AAA - smart00382 AAA_5 - pfam07728 AAA - pfam00004 COG1223 - COG1223	Swiss-Prot Protein: P55072 Identical to: NP_009057 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
RPT1	COG1222	1.6e-53	65	449
AAA	cd00009	1.4e-46	207	371
SpoVK	COG0464	3.1e-232	221	761
COG1223	COG1223	8.4e-21	380	722
RPT1	COG1222	5.3e-25	451	728
AAA	cd00009	6.1e-50	480	647
CDC48_N	pfam02359	6.7e-35	25	108
CDC48_2	pfam02933	1.7e-15	125	191
AAA	pfam00004	7.8e-67	241	371
AAA	pfam00004	2.8e-71	514	647
AAA_2	pfam07724	0.00015	236	365
AAA	smart00382	4.2e-28	237	373
AAA_5	pfam07728	1.1e-05	240	363
AAA	smart00382	1.6e-32	510	649

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_033022	Disease	p.ALA232GLU	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_033017	Disease	p.ARG155CYS	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_033021	Disease	p.ARG191GLN	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_065910	Disease	p.ARG159GLY	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14)
Swiss-Prot	VAR_033016	Disease	p.ARG95GLY	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_033018	Disease	p.ARG155HIS	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_033020	Disease	p.ARG159HIS	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_033019	Disease	p.ARG155PRO	Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 1 (IBMPFD1)
Swiss-Prot	VAR_065911	Disease	p.ASP592ASN	Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia (ALS14)
OMIM	601023.0003	Disease	p.ALA232GLU	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA
OMIM	601023.0002	Disease	p.ARG155CYS	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA
OMIM	601023.0006	Disease	p.ARG191GLN	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA\|\|AMYOTROPHIC LATERAL SCLEROSIS 14 WI
OMIM	601023.0008	Disease	p.ARG159GLY	AMYOTROPHIC LATERAL SCLEROSIS 14 WITH OR WITHOUT FRONTOTEMPORAL DEMENTIA
OMIM	601023.0004	Disease	p.ARG95GLY	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA
OMIM	601023.0001	Disease	p.ARG155HIS	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA\|\|AMYOTROPHIC LATERAL SCLEROSIS 14 WI
OMIM	601023.0007	Disease	p.ARG159HIS	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA
OMIM	601023.0005	Disease	p.ARG155PRO	INCLUSION BODY MYOPATHY WITH EARLY-ONSET PAGET DISEASE AND FRONTOTEMPORAL\|\|DEMENTIA
OMIM	601023.0009	Disease	p.ASP592ASN	AMYOTROPHIC LATERAL SCLEROSIS 14 WITHOUT FRONTOTEMPORAL DEMENTIA

Please Cite: Peterson, T.A., Adadey, A., Santana-Cruz ,I., Sun, Y., Winder A, Kann, M.G., (2010) DMDM: Domain Mapping of Disease Mutations. Bioinformatics 26 (19), 2458-2459.

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