Results for the protein: P21359

Results for the Protein: P21359

548350

4763

NF1

NCBI, UniProt

NF1_HUMAN RecName: Full=Neurofibromin; AltName: Full=Neurofibromatosis-related protein NF-1; Contains: RecName: Full=Neurofibromin truncated

Known Diseases associated with this Protein:
  FAMILIAL SPINAL NEUROFIBROMATOSIS (FSNF)
  LEUKEMIA, JUVENILE MYELOMONOCYTIC
  NEUROFIBROMATOSIS 1 (NF1)
  NEUROFIBROMATOSIS, FAMILIAL SPINAL
  NEUROFIBROMATOSIS, FAMILIAL SPINAL, INCLUDED
  NEUROFIBROMATOSIS, TYPE I
  NEUROFIBROMATOSIS-NOONAN SYNDROME
  NEUROFIBROMATOSIS-NOONAN SYNDROME (NFNS)

102

20

22

0

100

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Default View: RasGAP - smart00323 SEC14 - smart00516	Swiss-Prot Protein: P21359 Identical to: NP_001035957 Default View:

Domains found on the Protein

Domain ↕	CD Accession ↕	E-Value ↕	Start ↕	End ↕
SEC14	smart00516	1.6e-16	1583	1735

Table of Mutations found on the Protein

Source ↕	Mut_ID ↕	Class ↕	HGVS ↕	Disease ↕
Swiss-Prot	VAR_017550	Polymorphism	p.ALA74ASP	N/A
Swiss-Prot	VAR_021760	Disease	p.ALA1785SER	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_067201	Polymorphism	p.ALA330THR	N/A
Swiss-Prot	VAR_067205	Polymorphism	p.ALA776THR	N/A
Swiss-Prot	VAR_032469	Polymorphism	p.ARG873CYS	N/A
Swiss-Prot	VAR_017555	Disease	p.ARG1276GLN	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021755	Disease	p.ARG1204GLY	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032473	Disease	p.ARG1276GLY	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021742	Polymorphism	p.ARG765HIS	N/A
Swiss-Prot	VAR_021756	Disease	p.ARG1250PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010995	Disease	p.ARG1276PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010996	Disease	p.ARG1412SER	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_065888	Disease	p.ARG160THR	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010994	Disease	p.ARG1204TRP	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002660	Disease	p.ARG1611TRP	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021753	Disease	p.ASN1156SER	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032475	Disease	p.ASN1451THR	Neurofibromatosis-Noonan syndrome (NFNS)
Swiss-Prot	VAR_021763	Disease	p.ASP2012ASN	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_017552	Polymorphism	p.ASP176GLU	N/A
Swiss-Prot	VAR_010990	Disease	p.ASP338GLY	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032461	Disease	p.ASP186VAL	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032463	Disease	p.CYS324ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_017551	Disease	p.CYS93TYR	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_067204	Polymorphism	p.GLN519PRO	N/A
Swiss-Prot	VAR_021765	Disease	p.GLU2357LYS	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032464	Disease	p.GLU337VAL	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021762	Disease	p.GLY2001ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_035545	Polymorphism	p.GLY2745ARG	N/A
Swiss-Prot	VAR_002653	Disease	p.GLY629ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010993	Disease	p.GLY1166ASP	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021749	Disease	p.GLY848GLU	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032459	Disease	p.HIS31ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_017554	Polymorphism	p.HIS712ARG	N/A
Swiss-Prot	VAR_067202	Polymorphism	p.HIS393ASP	N/A
Swiss-Prot	VAR_067203	Polymorphism	p.HIS393LEU	N/A
Swiss-Prot	VAR_021745	Disease	p.HIS781PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021731	Disease	p.ILE157ASN	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010989	Disease	p.ILE117SER	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021737	Disease	p.ILE581THR	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021759	Disease	p.ILE1605VAL	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032471	Disease	p.LEU1196ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032462	Disease	p.LEU194ARG	Neurofibromatosis-Noonan syndrome (NFNS)
Swiss-Prot	VAR_021736	Disease	p.LEU578ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002654	Disease	p.LEU844ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_035543	Polymorphism	p.LEU1187ILE	N/A
Swiss-Prot	VAR_002664	Disease	p.LEU2164MET	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_065236	Disease	p.LEU1411PHE	Neurofibromatosis-Noonan syndrome (NFNS)
Swiss-Prot	VAR_010992	Disease	p.LEU844PHE	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021752	Disease	p.LEU1147PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032472	Disease	p.LEU1243PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_008129	Disease	p.LEU1446PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032460	Disease	p.LEU145PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002663	Disease	p.LEU1953PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_017669	Disease	p.LEU2088PRO	Familial spinal neurofibromatosis (FSNF)
Swiss-Prot	VAR_021732	Disease	p.LEU216PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021733	Disease	p.LEU357PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010991	Disease	p.LEU508PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032466	Disease	p.LEU532PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021735	Disease	p.LEU549PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021740	Disease	p.LEU695PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021741	Disease	p.LEU763PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032468	Disease	p.LEU844PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021748	Disease	p.LEU847PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002655	Disease	p.LEU898PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021750	Disease	p.LEU920PRO	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_017553	Disease	p.LEU604VAL	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002658	Disease	p.LYS1440ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021758	Disease	p.LYS1444ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021738	Disease	p.LYS583ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021757	Disease	p.LYS1444ASN	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010997	Disease	p.LYS1440GLN	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032474	Disease	p.LYS1430GLU	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002659	Disease	p.LYS1444GLU	Neurofibromatosis-Noonan syndrome (NFNS)
Swiss-Prot	VAR_002657	Disease	p.MET1035ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021751	Disease	p.MET968ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032470	Disease	p.MET1073VAL	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021754	Disease	p.PHE1193CYS	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021764	Disease	p.PRO2221ALA	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_035544	Polymorphism	p.PRO1951LEU	N/A
Swiss-Prot	VAR_022255	Polymorphism	p.PRO678LEU	N/A
Swiss-Prot	VAR_032467	Disease	p.SER574ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_010998	Disease	p.SER1489GLY	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_067206	Polymorphism	p.SER1484PHE	N/A
Swiss-Prot	VAR_021739	Polymorphism	p.SER665PHE	N/A
Swiss-Prot	VAR_021730	Disease	p.SER82PHE	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002667	Disease	p.THR2631ALA	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021766	Disease	p.THR2507ILE	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021744	Disease	p.THR780LYS	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002662	Disease	p.TRP1952ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021747	Disease	p.TRP784ARG	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021746	Disease	p.TRP784CYS	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021743	Disease	p.TRP777SER	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_002665	Disease	p.TYR2192ASN	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_032465	Disease	p.TYR489CYS	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_021734	Disease	p.TYR491CYS	Neurofibromatosis 1 (NF1)
Swiss-Prot	VAR_022254	Polymorphism	p.TYR80CYS	N/A
Swiss-Prot	VAR_022256	Polymorphism	p.TYR1422HIS	N/A
Swiss-Prot	VAR_049135	Polymorphism	p.TYR80SER	N/A
Swiss-Prot	VAR_032476	Disease	p.VAL1453LEU	Neurofibromatosis-Noonan syndrome (NFNS)
Swiss-Prot	VAR_022257	Polymorphism	p.VAL2511LEU	N/A
OMIM	613113.0022	Disease	p.ARG1276PRO	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0016	Disease	p.ARG1391SER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0031	Disease	p.ARG1241TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0027	Disease	p.ARG1362TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0046	Disease	p.ARG192TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0012	Disease	p.ARG1947TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0004	Disease	p.ARG365TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0026	Disease	p.GLN1341TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0042	Disease	p.GLU1904TER	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0043	Disease	p.LEU844ARG	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0008	Disease	p.LEU2143MET	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0045	Disease	p.LEU1390PHE	NEUROFIBROMATOSIS-NOONAN SYNDROME
OMIM	613113.0041	Disease	p.LEU1243PRO	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0028	Disease	p.LEU2067PRO	NEUROFIBROMATOSIS, FAMILIAL SPINAL
OMIM	613113.0003	Disease	p.LEU348PRO	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0038	Disease	p.LEU357PRO	NEUROFIBROMATOSIS, TYPE I\|\|NEUROFIBROMATOSIS, FAMILIAL SPINAL, INCLUDED
OMIM	613113.0024	Disease	p.LEU508PRO	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0005	Disease	p.LYS1423GLU	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0015	Disease	p.MET1035ARG	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0019	Disease	p.TRP1538TER	LEUKEMIA, JUVENILE MYELOMONOCYTIC
OMIM	613113.0009	Disease	p.TYR2213ASN	NEUROFIBROMATOSIS, TYPE I
OMIM	613113.0023	Disease	p.TYR489CYS	NEUROFIBROMATOSIS, TYPE I

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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