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Results for the Protein: NP_001447
116063573

filamin-A isoform 1 [Homo sapiens]

Known Diseases associated with this Protein:
  CARDIAC VALVULAR DYSPLASIA, X-LINKED
  FG SYNDROME 2
  FRONTOMETAPHYSEAL DYSPLASIA
  HETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT
  HETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
  MELNICK-NEEDLES SYNDROME
  OTOPALATODIGITAL SPECTRUM DISORDER
  OTOPALATODIGITAL SYNDROME, TYPE I
  OTOPALATODIGITAL SYNDROME, TYPE II
  OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED
20
2
20
2
0
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Default View:

SAC6 - COG5069
CH - pfam00307
CH - cd00014
CH - smart00033
Filamin - pfam00630
IG_FLMN - smart00557


RefSeq Protein: NP_001447
   Default View:






Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
CHcd000141.3e-29167269
SAC6COG50699.9e-0536643
CHpfam003073.3e-2944149
CHpfam003071.6e-28167269
Filaminpfam006301.4e-27278371
Filaminpfam006305.8e-33378471
Filaminpfam006303.6e-26477567
Filaminpfam006302.3e-22573660
Filaminpfam006309.9e-33669760
Filaminpfam006301.7e-21766863
Filaminpfam006304.4e-25869962
Filaminpfam006309.5e-239681058
Filaminpfam006301.5e-3610641151
Filaminpfam006302.9e-2911571246
Filaminpfam006304.4e-2712521346
Filaminpfam006302.6e-3113521439
Filaminpfam006309.9e-3514451536
Filaminpfam006302.5e-3015421633
Filaminpfam006304.4e-3016391729
Filaminpfam006306.4e-0917641849
Filaminpfam006302.5e-3318541941
Filaminpfam006301.6e-3020362123
Filaminpfam006302.3e-0621242219
Filaminpfam006301.5e-3122272314
Filaminpfam006302e-2223212409
Filaminpfam006304.3e-2624182505
Filaminpfam006306.5e-2425462635
CHsmart000339.6e-3045147
CHsmart000338.9e-23168264
IG_FLMNsmart005572.7e-35281377
IG_FLMNsmart005573.2e-40381477
IG_FLMNsmart005575.4e-38480573
IG_FLMNsmart005571.3e-27576666
IG_FLMNsmart005579.3e-42672766
IG_FLMNsmart005574.7e-36769869
IG_FLMNsmart005573.1e-32872968
IG_FLMNsmart005573.2e-279711064
IG_FLMNsmart005574e-4410671157
IG_FLMNsmart005574.5e-3711601252
IG_FLMNsmart005571.8e-3412551352
IG_FLMNsmart005574.7e-3813551445
IG_FLMNsmart005571.1e-4214481542
IG_FLMNsmart005579.2e-3715451639
IG_FLMNsmart005572.8e-3516421735
IG_FLMNsmart005572.7e-2217511855
IG_FLMNsmart005572.7e-4018571947
IG_FLMNsmart005571.2e-1219492034
IG_FLMNsmart005571.3e-4220392129
IG_FLMNsmart005574.1e-1121302225
IG_FLMNsmart005573.7e-4022302320
IG_FLMNsmart005574.4e-3023242415
IG_FLMNsmart005571.5e-3524212511
IG_FLMNsmart005577.1e-2925492639

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
dbSNPrs35504556 Polymorphismp.ALA1419GLYN/A
dbSNPrs17091204 Polymorphismp.SER1012LEUN/A
OMIM300017.0019 Diseasep.ALA39GLYHETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
OMIM300017.0012 Diseasep.ALA1188THRMELNICK-NEEDLES SYNDROME
OMIM300017.0021 Diseasep.ALA128VALHETEROTOPIA, PERIVENTRICULAR, EHLERS-DANLOS VARIANT
OMIM300017.0026 Diseasep.ARG196TRPOTOPALATODIGITAL SYNDROME, TYPE I||OTOPALATODIGITAL SYNDROME, TYPE II, INCLUDED
OMIM300017.0011 Diseasep.ASP1159ALAFRONTOMETAPHYSEAL DYSPLASIA
OMIM300017.0020 Diseasep.ASP203TYROTOPALATODIGITAL SYNDROME, TYPE I
OMIM300017.0027 Diseasep.CYS210PHEOTOPALATODIGITAL SYNDROME, TYPE II
OMIM300017.0001 Diseasep.GLN182TERHETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT
OMIM300017.0010 Diseasep.GLU254LYSOTOPALATODIGITAL SYNDROME, TYPE II
OMIM300017.0008 Diseasep.GLU82VALHETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT
OMIM300017.0031 Diseasep.GLY288ARGCARDIAC VALVULAR DYSPLASIA, X-LINKED
OMIM300017.0022 Diseasep.GLY1720CYSOTOPALATODIGITAL SPECTRUM DISORDER
OMIM300017.0006 Diseasep.LEU656PHEHETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT
OMIM300017.0030 Diseasep.PRO637GLNCARDIAC VALVULAR DYSPLASIA, X-LINKED
OMIM300017.0028 Diseasep.PRO1291LEUFG SYNDROME 2
OMIM300017.0009 Diseasep.PRO207LEUOTOPALATODIGITAL SYNDROME, TYPE I
OMIM300017.0015 Diseasep.SER1186LEUFRONTOMETAPHYSEAL DYSPLASIA
OMIM300017.0013 Diseasep.SER1199LEUMELNICK-NEEDLES SYNDROME
OMIM300017.0034 Diseasep.TRP2624TERHETEROTOPIA, PERIVENTRICULAR NODULAR, X-LINKED DOMINANT
OMIM300017.0032 Diseasep.VAL711ASPCARDIAC VALVULAR DYSPLASIA, X-LINKED



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