Results for the protein: P49815

Results for the Protein: P49815

269849475

7249

TSC2

NCBI, UniProt

TSC2_HUMAN RecName: Full=Tuberin; AltName: Full=Tuberous sclerosis 2 protein

Known Diseases associated with this Protein:
  LYMPHANGIOLEIOMYOMATOSIS, SOMATIC
  LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED
  TUBEROUS SCLEROSIS 2
  TUBEROUS SCLEROSIS 2 (TSC2)

64

37

12

4

85

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Default View: DUF3384 - pfam11864 Tuberin - pfam03542 Rap_GAP - pfam02145	Swiss-Prot Protein: P49815 Identical to: NP_000539 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
Rap_GAP	pfam02145	3e-53	1561	1750
DUF3384	pfam11864	2.3e-146	51	472

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_009436	Disease	p.ALA614ASP	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005666	Disease	p.ALA1712GLU	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_018601	Polymorphism	p.ALA1429SER	N/A
Swiss-Prot	VAR_009433	Polymorphism	p.ALA583THR	N/A
Swiss-Prot	VAR_005649	Polymorphism	p.ALA607THR	N/A
Swiss-Prot	VAR_057014	Polymorphism	p.ALA1141VAL	N/A
Swiss-Prot	VAR_008024	Polymorphism	p.ALA536VAL	N/A
Swiss-Prot	VAR_018600	Polymorphism	p.ALA862VAL	N/A
Swiss-Prot	VAR_008031	Disease	p.ARG1743GLN	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009428	Polymorphism	p.ARG367GLN	N/A
Swiss-Prot	VAR_005650	Disease	p.ARG611GLN	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005653	Disease	p.ARG905GLN	Tuberous sclerosis 2 (TSC2)
dbSNP	rs45517323	Disease	p.ARG1329HIS	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009454	Disease	p.ARG1743PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009418	Disease	p.ARG261PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005656	Disease	p.ARG1200TRP	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005658	Disease	p.ARG1240TRP	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009419	Polymorphism	p.ARG261TRP	N/A
Swiss-Prot	VAR_005651	Disease	p.ARG611TRP	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005654	Disease	p.ARG905TRP	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005663	Disease	p.ASN1643ILE	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008022	Disease	p.ASN486ILE	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009449	Disease	p.ASN1643LYS	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009452	Disease	p.ASN1681LYS	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008021	Disease	p.ASN331LYS	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009450	Disease	p.ASN1651SER	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009432	Disease	p.ASN525SER	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_022921	Polymorphism	p.ASP1636ASN	N/A
Swiss-Prot	VAR_009437	Polymorphism	p.ASP647ASN	N/A
Swiss-Prot	VAR_005655	Disease	p.ASP1084GLU	Tuberous sclerosis 2 (TSC2)
dbSNP	rs1748	Polymorphism	p.ASP1734GLU	N/A
Swiss-Prot	VAR_005665	Disease	p.ASP1690TYR	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005659	Disease	p.ASP1295VAL	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008020	Disease	p.CYS227TYR	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009439	Disease	p.CYS696TYR	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008033	Disease	p.GLU1783GLN	Tuberous sclerosis 2 (TSC2)
dbSNP	rs62642481	Polymorphism	p.GLU1307LYS	N/A
Swiss-Prot	VAR_009422	Disease	p.GLY294GLU	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009457	Polymorphism	p.GLY1787SER	N/A
Swiss-Prot	VAR_009458	Polymorphism	p.GLY1791SER	N/A
Swiss-Prot	VAR_009430	Polymorphism	p.GLY440SER	N/A
Swiss-Prot	VAR_009415	Polymorphism	p.HIS137ARG	N/A
Swiss-Prot	VAR_009434	Polymorphism	p.HIS593ARG	N/A
Swiss-Prot	VAR_008032	Disease	p.HIS1773PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009448	Disease	p.HIS1620TYR	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009431	Polymorphism	p.ILE463VAL	N/A
Swiss-Prot	VAR_008023	Polymorphism	p.ILE490VAL	N/A
Swiss-Prot	VAR_009440	Disease	p.LEU717ARG	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009424	Polymorphism	p.LEU309GLN	N/A
Swiss-Prot	VAR_009447	Polymorphism	p.LEU1594MET	N/A
Swiss-Prot	VAR_005652	Disease	p.LEU826MET	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005667	Disease	p.LEU1750PHE	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009425	Polymorphism	p.LEU320PHE	N/A
Swiss-Prot	VAR_060584	Polymorphism	p.LEU619PHE	N/A
Swiss-Prot	VAR_022919	Disease	p.LEU1027PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009455	Disease	p.LEU1744PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005646	Disease	p.LEU292PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009426	Disease	p.LEU361PRO	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009416	Polymorphism	p.LEU160VAL	N/A
Swiss-Prot	VAR_009417	Disease	p.LYS258ASN	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009435	Disease	p.LYS599MET	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005648	Disease	p.MET449ILE	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009420	Polymorphism	p.MET286THR	N/A
dbSNP	rs1800748	Polymorphism	p.MET286VAL	N/A
Swiss-Prot	VAR_009442	Disease	p.MET895VAL	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008025	Polymorphism	p.PHE615SER	N/A
Swiss-Prot	VAR_018602	Polymorphism	p.PRO1450ARG	N/A
Swiss-Prot	VAR_009445	Disease	p.PRO1497ARG	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005657	Disease	p.PRO1227LEU	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009451	Disease	p.PRO1675LEU	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008030	Disease	p.PRO1709LEU	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009429	Polymorphism	p.PRO378LEU	N/A
Swiss-Prot	VAR_008026	Disease	p.PRO816LEU	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008028	Disease	p.PRO1315SER	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_008019	Polymorphism	p.PRO94THR	N/A
Swiss-Prot	VAR_022920	Polymorphism	p.SER1341ARG	N/A
Swiss-Prot	VAR_060585	Polymorphism	p.SER802ARG	N/A
Swiss-Prot	VAR_009446	Disease	p.SER1498ASN	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009444	Polymorphism	p.SER1282GLY	N/A
Swiss-Prot	VAR_018603	Disease	p.SER1653PHE	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009453	Disease	p.SER1704THR	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_057015	Polymorphism	p.SER1774THR	N/A
Swiss-Prot	VAR_005647	Disease	p.TYR407ASP	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005661	Disease	p.TYR1549CYS	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_005664	Disease	p.TYR1650CYS	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009441	Polymorphism	p.VAL769GLU	N/A
Swiss-Prot	VAR_022922	Polymorphism	p.VAL1673LEU	N/A
Swiss-Prot	VAR_008027	Disease	p.VAL1144MET	Tuberous sclerosis 2 (TSC2)
Swiss-Prot	VAR_009443	Polymorphism	p.VAL963MET	N/A
OMIM	191092.0006	Disease	p.ARG611GLN	TUBEROUS SCLEROSIS 2\|\|LYMPHANGIOLEIOMYOMATOSIS, SOMATIC, INCLUDED
OMIM	191092.0013	Disease	p.ARG905GLN	TUBEROUS SCLEROSIS 2
OMIM	191092.0015	Disease	p.ARG905GLY	TUBEROUS SCLEROSIS 2
OMIM	191092.0005	Disease	p.ARG505TER	TUBEROUS SCLEROSIS 2
OMIM	191092.0014	Disease	p.ARG905TRP	TUBEROUS SCLEROSIS 2
OMIM	191092.0011	Disease	p.GLN1503PRO	TUBEROUS SCLEROSIS 2
OMIM	191092.0008	Disease	p.GLN478TER	TUBEROUS SCLEROSIS 2
OMIM	191092.0010	Disease	p.GLU366TER	LYMPHANGIOLEIOMYOMATOSIS, SOMATIC
OMIM	191092.0007	Disease	p.LEU717ARG	TUBEROUS SCLEROSIS 2
OMIM	191092.0003	Disease	p.LYS12TER	TUBEROUS SCLEROSIS 2
OMIM	191092.0009	Disease	p.PRO1675LEU	TUBEROUS SCLEROSIS 2
OMIM	191092.0017	Disease	p.TRP441TER	TUBEROUS SCLEROSIS 2

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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