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Results for the Protein: P38935
317373494

SMBP2_HUMAN RecName: Full=DNA-binding protein SMUBP-2; AltName: Full=ATP-dependent helicase IGHMBP2; AltName: Full=Glial factor 1; Short=GF-1; AltName: Full=Immunoglobulin mu-binding protein 2

Known Diseases associated with this Protein:
  DISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
  NEURONOPATHY, DISTAL HEREDITARY MOTOR, 6 (HMN6)
35
8
6
4
33
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Default View:

COG1112 - COG1112
DEXDc - smart00487
AAA - smart00382
DEXDc - cd00046
R3H - smart00393
R3H_Smubp-2_like - cd02641
R3H - cd02325
R3H_NRF - cd02640
R3H_G-patch - cd02646
R3H_DEXH_helicase - cd06007
R3H - pfam01424
ZnF_AN1 - smart00154
zf-AN1 - pfam01428


Swiss-Prot Protein: P38935
Identical to: NP_002171
   Default View:









Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
COG1112COG11123.9e-611655
DEXDccd000461.7e-13208409
R3Hcd023252e-16726784
R3H_NRFcd026406e-09726784
R3H_Smubp-2_likecd026416.9e-38726784
R3H_G-patchcd026461.5e-09726784
R3H_DEXH_helicasecd060075.3e-07730784
R3Hpfam014246.7e-17730785
zf-AN1pfam014282.8e-08897940
DEXDcsmart004871.3e-05184447
AAAsmart003822.9e-05206428
R3Hsmart003932.4e-24706785
ZnF_AN1smart001544e-11897937

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_055225Polymorphismp.ALA75THRN/A
Swiss-ProtVAR_058506Diseasep.ARG603CYSNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022338Diseasep.ARG637CYSNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022337Diseasep.ARG603HISNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_058505Diseasep.ARG581SERNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_021899Polymorphismp.ARG694TRPN/A
Swiss-ProtVAR_022335Diseasep.ASN583ILENeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022331Diseasep.ASP565ASNNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022340Diseasep.ASP974GLUNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022324Diseasep.CYS241ARGNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_058498Diseasep.GLN196ARGNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022325Diseasep.GLU334LYSNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022328Diseasep.GLU382LYSNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022330Diseasep.GLU514LYSNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_021900Polymorphismp.GLU928LYSN/A
Swiss-ProtVAR_022336Diseasep.GLY586CYSNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022322Diseasep.HIS213ARGNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_058502Diseasep.HIS445PRONeuronopathy, distal hereditary motor, 6 (HMN6)
dbSNPrs10896380 Polymorphismp.ILE275VALN/A
Swiss-ProtVAR_058497Diseasep.LEU17PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022321Diseasep.LEU192PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_058500Diseasep.LEU251PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022326Diseasep.LEU361PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022327Diseasep.LEU364PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022329Diseasep.LEU426PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_058503Diseasep.LEU472PRONeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022333Diseasep.LEU577PRONeuronopathy, distal hereditary motor, 6 (HMN6)
dbSNPrs560096 Polymorphismp.LEU201SERN/A
Swiss-ProtVAR_055226Polymorphismp.PRO557ALAN/A
Swiss-ProtVAR_058499Diseasep.PRO216LEUNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022323Diseasep.THR221ALANeuronopathy, distal hereditary motor, 6 (HMN6)
dbSNPrs622082 Polymorphismp.THR671ALAN/A
Swiss-ProtVAR_058504Diseasep.THR493ILENeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022339Diseasep.THR879LYSNeuronopathy, distal hereditary motor, 6 (HMN6)
dbSNPrs17612126 Polymorphismp.THR879LYSN/A
Swiss-ProtVAR_058501Diseasep.TRP386ARGNeuronopathy, distal hereditary motor, 6 (HMN6)
Swiss-ProtVAR_022334Diseasep.VAL580ILENeuronopathy, distal hereditary motor, 6 (HMN6)
OMIM600502.0004 Diseasep.GLN41TERDISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
OMIM600502.0001 Diseasep.GLU514LYSDISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
OMIM600502.0002 Diseasep.HIS213ARGDISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
OMIM600502.0006 Diseasep.LEU236TERDISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
OMIM600502.0008 Diseasep.PHE369LEUDISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1
OMIM600502.0003 Diseasep.VAL580ILEDISTAL SPINAL MUSCULAR ATROPHY, AUTOSOMAL RECESSIVE, 1



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