Results for the protein: P60484

Results for the Protein: P60484

42560209

5728

PTEN

NCBI, UniProt

PTEN_HUMAN RecName: Full=Phosphatidylinositol 3,4,5-trisphosphate 3-phosphatase and dual-specificity protein phosphatase PTEN; AltName: Full=Mutated in multiple advanced cancers 1; AltName: Full=Phosphatase and tensin homolog

Known Diseases associated with this Protein:
  BANNAYAN-RILEY-RUVALCABA SYNDROME
  BANNAYAN-RILEY-RUVALCABA SYNDROME (BRRS)
  BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED
  BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED;;
  COWDEN DISEASE 1
  COWDEN DISEASE 1, INCLUDED;;
  COWDEN SYNDROME 1 (CWS1)
  ENDOMETRIAL CANCER (ENDMC)
  GLIOMA SUSCEPTIBILITY 2
  LHERMITTE-DUCLOS DISEASE
  LHERMITTE-DUCLOS DISEASE (LDD)
  MACROCEPHALY/AUTISM SYNDROME
  MACROCEPHALY/AUTISM SYNDROME (MCEPHAS)
  MACROCEPHALY/AUTISM SYNDROME, INCLUDED
  MALIGNANT MELANOMA, SOMATIC
  MENINGIOMA, INCLUDED
  PROSTATE CANCER (PC)
  PROTEUS-LIKE SYNDROME, INCLUDED
  PTEN HAMARTOMA TUMOR SYNDROME
  SQUAMOUS CELL CARCINOMA OF THE HEAD AND NECK (HNSCC)
  SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC
  VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY

65

37

28

0

74

Tips:

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Default View: CDC14 - COG2453 PTPc_motif - smart00404 PTPc_DSPc - smart00012 PTEN_C2 - pfam10409	Swiss-Prot Protein: P60484 Identical to: NP_000305 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
PTPc_DSPc	smart00012	1e-32	23	183
PTPc_motif	smart00404	1e-32	23	183
PTEN_C2	pfam10409	7.4e-64	188	349

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_008734	Disease	p.ALA34ASP	Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Swiss-Prot	VAR_018103	Disease	p.ALA121GLY	Squamous cell carcinoma of the head and neck (HNSCC)
Swiss-Prot	VAR_026259	Polymorphism	p.ALA121PRO	N/A
Swiss-Prot	VAR_026267	Polymorphism	p.ARG173CYS	N/A
Swiss-Prot	VAR_007468	Disease	p.ARG130GLN	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_018106	Polymorphism	p.ARG234GLN	N/A
Swiss-Prot	VAR_026261	Polymorphism	p.ARG130GLY	N/A
Swiss-Prot	VAR_011587	Disease	p.ARG47GLY	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026268	Polymorphism	p.ARG173HIS	N/A
Swiss-Prot	VAR_007467	Disease	p.ARG130LEU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026269	Polymorphism	p.ARG173PRO	N/A
Swiss-Prot	VAR_007457	Polymorphism	p.ARG15SER	N/A
Swiss-Prot	VAR_018100	Polymorphism	p.ASP19ASN	N/A
Swiss-Prot	VAR_032637	Disease	p.ASP252GLY	Macrocephaly/autism syndrome (MCEPHAS)
Swiss-Prot	VAR_026275	Disease	p.ASP331GLY	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026257	Disease	p.ASP107TYR	Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Swiss-Prot	VAR_007464	Disease	p.CYS124ARG	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026256	Disease	p.CYS105PHE	Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Swiss-Prot	VAR_018104	Disease	p.CYS124SER	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_008735	Disease	p.CYS105TYR	Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Swiss-Prot	VAR_007808	Disease	p.CYS136TYR	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026254	Disease	p.CYS71TYR	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_007466	Polymorphism	p.GLY129ARG	N/A
Swiss-Prot	VAR_026264	Polymorphism	p.GLY165ARG	N/A
Swiss-Prot	VAR_026252	Polymorphism	p.GLY36ARG	N/A
Swiss-Prot	VAR_026273	Polymorphism	p.GLY251CYS	N/A
Swiss-Prot	VAR_007465	Disease	p.GLY129GLU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_008739	Disease	p.GLY165GLU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026250	Polymorphism	p.GLY20GLU	N/A
Swiss-Prot	VAR_007458	Polymorphism	p.GLY36GLU	N/A
Swiss-Prot	VAR_032635	Polymorphism	p.GLY132VAL	N/A
Swiss-Prot	VAR_008738	Disease	p.GLY165VAL	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_007463	Disease	p.HIS123ARG	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026253	Polymorphism	p.HIS61ARG	N/A
Swiss-Prot	VAR_032634	Disease	p.HIS93ARG	Macrocephaly/autism syndrome (MCEPHAS)
Swiss-Prot	VAR_018101	Polymorphism	p.HIS61ASP	N/A
Swiss-Prot	VAR_026260	Disease	p.HIS123TYR	Endometrial cancer (ENDMC)
Swiss-Prot	VAR_026255	Disease	p.HIS93TYR	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_007461	Disease	p.ILE67ARG	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_008736	Disease	p.ILE135VAL	Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Swiss-Prot	VAR_026258	Polymorphism	p.LEU112ARG	N/A
Swiss-Prot	VAR_007459	Polymorphism	p.LEU42ARG	N/A
Swiss-Prot	VAR_026278	Polymorphism	p.LEU345GLN	N/A
Swiss-Prot	VAR_007807	Disease	p.LEU112PRO	Lhermitte-Duclos disease (LDD)
Swiss-Prot	VAR_018102	Disease	p.LEU70PRO	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_007460	Polymorphism	p.LEU57TRP	N/A
Swiss-Prot	VAR_026277	Disease	p.LYS342ASN	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_008741	Disease	p.LYS289GLU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_008036	Disease	p.MET35ARG	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_007469	Disease	p.MET134LEU	Prostate cancer (PC)
Swiss-Prot	VAR_008743	Disease	p.PHE347LEU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_032636	Disease	p.PHE241SER	Macrocephaly/autism syndrome (MCEPHAS)
Swiss-Prot	VAR_026276	Disease	p.PHE341VAL	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_008740	Disease	p.PRO246LEU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_007470	Disease	p.SER170ARG	Bannayan-Riley-Ruvalcaba syndrome (BRRS)
Swiss-Prot	VAR_026248	Polymorphism	p.SER10ASN	N/A
Swiss-Prot	VAR_026266	Polymorphism	p.SER170ASN	N/A
Swiss-Prot	VAR_026272	Polymorphism	p.SER227PHE	N/A
Swiss-Prot	VAR_026279	Polymorphism	p.THR348ILE	N/A
Swiss-Prot	VAR_026281	Polymorphism	p.THR401ILE	N/A
Swiss-Prot	VAR_026265	Polymorphism	p.THR167PRO	N/A
Swiss-Prot	VAR_026270	Polymorphism	p.TYR174ASN	N/A
Swiss-Prot	VAR_026263	Disease	p.TYR155CYS	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026249	Polymorphism	p.TYR16CYS	N/A
Swiss-Prot	VAR_007462	Disease	p.TYR68HIS	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026251	Polymorphism	p.TYR27SER	N/A
Swiss-Prot	VAR_026271	Polymorphism	p.VAL191ALA	N/A
Swiss-Prot	VAR_008742	Disease	p.VAL343GLU	Cowden syndrome 1 (CWS1)
Swiss-Prot	VAR_026280	Polymorphism	p.VAL369GLY	N/A
Swiss-Prot	VAR_026262	Polymorphism	p.VAL133ILE	N/A
Swiss-Prot	VAR_018105	Polymorphism	p.VAL217ILE	N/A
Swiss-Prot	VAR_011588	Polymorphism	p.VAL119LEU	N/A
Swiss-Prot	VAR_011589	Polymorphism	p.VAL158LEU	N/A
Swiss-Prot	VAR_025167	Polymorphism	p.VAL290LEU	N/A
OMIM	601728.0031	Disease	p.ALA121GLY	SQUAMOUS CELL CARCINOMA, HEAD AND NECK, SOMATIC
OMIM	601728.0017	Disease	p.ARG130GLN	COWDEN DISEASE 1
OMIM	601728.0029	Disease	p.ARG234GLN	GLIOMA SUSCEPTIBILITY 2\|\|MENINGIOMA, INCLUDED
OMIM	601728.0007	Disease	p.ARG130TER	COWDEN DISEASE 1\|\|BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED;;\|\|MACROCEPHALY/AUTISM SYNDROME, INCLUDED
OMIM	601728.0002	Disease	p.ARG233TER	COWDEN DISEASE 1\|\|BANNAYAN-RILEY-RUVALCABA SYNDROME, INCLUDED
OMIM	601728.0021	Disease	p.ARG335TER	BANNAYAN-RILEY-RUVALCABA SYNDROME\|\|COWDEN DISEASE 1, INCLUDED;;\|\|PROTEUS-LIKE SYNDROME, INCLUDED
OMIM	601728.0025	Disease	p.ASP19ASN	MALIGNANT MELANOMA, SOMATIC
OMIM	601728.0038	Disease	p.ASP252GLY	MACROCEPHALY/AUTISM SYNDROME
OMIM	601728.0006	Disease	p.CYS124ARG	COWDEN DISEASE 1
OMIM	601728.0023	Disease	p.CYS124SER	COWDEN DISEASE 1
OMIM	601728.0024	Disease	p.CYS211TER	MALIGNANT MELANOMA, SOMATIC
OMIM	601728.0015	Disease	p.GLN214TER	BANNAYAN-RILEY-RUVALCABA SYNDROME
OMIM	601728.0003	Disease	p.GLU157TER	LHERMITTE-DUCLOS DISEASE
OMIM	601728.0016	Disease	p.GLU256TER	BANNAYAN-RILEY-RUVALCABA SYNDROME
OMIM	601728.0001	Disease	p.GLY129GLU	COWDEN DISEASE 1
OMIM	601728.0041	Disease	p.GLY132VAL	PTEN HAMARTOMA TUMOR SYNDROME
OMIM	601728.0005	Disease	p.HIS123ARG	COWDEN DISEASE 1
OMIM	601728.0037	Disease	p.HIS93ARG	MACROCEPHALY/AUTISM SYNDROME
OMIM	601728.0030	Disease	p.HIS861ASP	VATER ASSOCIATION WITH MACROCEPHALY AND VENTRICULOMEGALY
OMIM	601728.0020	Disease	p.LEU112PRO	LHERMITTE-DUCLOS DISEASE
OMIM	601728.0012	Disease	p.LEU70PRO	COWDEN DISEASE 1
OMIM	601728.0011	Disease	p.MET35ARG	COWDEN DISEASE 1
OMIM	601728.0039	Disease	p.PHE241SER	MACROCEPHALY/AUTISM SYNDROME
OMIM	601728.0004	Disease	p.SER170ARG	BANNAYAN-RILEY-RUVALCABA SYNDROME
OMIM	601728.0042	Disease	p.THR167ASN	MACROCEPHALY/AUTISM SYNDROME
OMIM	601728.0043	Disease	p.THR131ILE	MACROCEPHALY/AUTISM SYNDROME
OMIM	601728.0014	Disease	p.TYR178TER	BANNAYAN-RILEY-RUVALCABA SYNDROME
OMIM	601728.0026	Disease	p.VAL217ILE	MALIGNANT MELANOMA, SOMATIC

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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