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Results for the Protein: Q9UBP0
12230611

SPAST_HUMAN RecName: Full=Spastin; AltName: Full=Spastic paraplegia 4 protein

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 4
  SPASTIC PARAPLEGIA 4, AUTOSOMAL DOMINANT (SPG4)
  SPASTIC PARAPLEGIA 4, MODIFIER OF
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22
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0
84
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Default View:

MIT - smart00745
AAA - smart00382
AAA_5 - pfam07728


Swiss-Prot Protein: Q9UBP0
Identical to: NP_055761
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Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MITsmart007452.9e-24116193
AAAsmart003824.6e-18374510
AAA_5pfam077280.00022377500

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_067641Diseasep.ALA409THRSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019451Diseasep.ALA551TYRSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027221Diseasep.ALA485VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027225Diseasep.ALA556VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027218Diseasep.ARG460CYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_010198Diseasep.ARG499CYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027228Diseasep.ARG562GLNSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_010196Diseasep.ARG424GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027217Diseasep.ARG459GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067649Diseasep.ARG498GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067651Diseasep.ARG514GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027227Diseasep.ARG562GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_026761Diseasep.ARG499HISSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027219Diseasep.ARG460LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019442Diseasep.ARG503LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067576Polymorphismp.ARG562PRON/A
Swiss-ProtVAR_067572Diseasep.ARG460SERSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067636Diseasep.ARG364THRSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_026762Diseasep.ARG503TRPSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067653Polymorphismp.ASN579HISN/A
Swiss-ProtVAR_027210Diseasep.ASN386LYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019440Diseasep.ASN386SERSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067645Diseasep.ASP441ASNSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027224Diseasep.ASP555ASNSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027216Diseasep.ASP441GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_026760Diseasep.ASP493GLYSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_010199Diseasep.ASP584HISSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027220Diseasep.ASP470VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_010197Diseasep.CYS448TYRSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027206Diseasep.GLN347LYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067647Polymorphismp.GLU464ALAN/A
Swiss-ProtVAR_027223Diseasep.GLU512ASPSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067564Polymorphismp.GLU356LYSN/A
Swiss-ProtVAR_067571Diseasep.GLU454LYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027208Diseasep.GLY370ARGSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067566Polymorphismp.GLY382ARGN/A
Swiss-ProtVAR_027226Diseasep.GLY559ASPSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067634Polymorphismp.ILE328LEUN/A
Swiss-ProtVAR_019448Diseasep.ILE344LYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067654Diseasep.ILE580THRSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_026759Diseasep.ILE406VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067637Diseasep.LEU378ARGSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019439Diseasep.LEU378GLNSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067638Diseasep.LEU380HISSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067569Polymorphismp.LEU422PHEN/A
Swiss-ProtVAR_067643Diseasep.LEU426PHESpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067648Diseasep.LEU492PHESpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067639Diseasep.LEU391PROSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019444Diseasep.LEU534PROSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067633Polymorphismp.LEU314SERN/A
Swiss-ProtVAR_026758Diseasep.LEU195VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067635Polymorphismp.LEU360VALN/A
Swiss-ProtVAR_027213Diseasep.LEU426VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067575Polymorphismp.LEU534VALN/A
Swiss-ProtVAR_027211Diseasep.LYS388ARGSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019441Diseasep.MET390VALSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027209Diseasep.PHE381CYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027205Polymorphismp.PRO45GLNN/A
Swiss-ProtVAR_067632Diseasep.PRO293LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027207Diseasep.PRO361LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027214Diseasep.PRO435LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_027222Diseasep.PRO489LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067565Polymorphismp.PRO365SERN/A
Swiss-ProtVAR_067628Polymorphismp.PRO97THRN/A
Swiss-ProtVAR_019450Diseasep.SER407ARGSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067642Diseasep.SER410ARGSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067570Polymorphismp.SER445ASNN/A
Swiss-ProtVAR_010195Diseasep.SER362CYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067630Polymorphismp.SER229GLYN/A
Swiss-ProtVAR_067567Polymorphismp.SER407ILEN/A
Swiss-ProtVAR_027212Diseasep.SER399LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067568Diseasep.SER413LEUSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_010194Polymorphismp.SER44LEUN/A
Swiss-ProtVAR_027215Diseasep.SER436PHESpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067644Diseasep.SER436PROSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067646Diseasep.THR463ALASpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067652Polymorphismp.THR550ILEN/A
Swiss-ProtVAR_019445Diseasep.THR614ILESpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_019452Diseasep.THR615ILESpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_026763Diseasep.TRP607CYSSpastic paraplegia 4, autosomal dominant (SPG4)
Swiss-ProtVAR_067629Polymorphismp.VAL201ASPN/A
Swiss-ProtVAR_067563Polymorphismp.VAL162ILEN/A
Swiss-ProtVAR_035902Polymorphismp.VAL423LEUN/A
Swiss-ProtVAR_067573Polymorphismp.VAL482LEUN/A
OMIM604277.0004 Diseasep.ARG499CYSSPASTIC PARAPLEGIA 4
OMIM604277.0018 Diseasep.ARG562GLYSPASTIC PARAPLEGIA 4
OMIM604277.0014 Diseasep.ASN386SERSPASTIC PARAPLEGIA 4
OMIM604277.0009 Diseasep.ASP441GLYSPASTIC PARAPLEGIA 4
OMIM604277.0016 Diseasep.ASP470VALSPASTIC PARAPLEGIA 4
OMIM604277.0002 Diseasep.CYS448TYRSPASTIC PARAPLEGIA 4
OMIM604277.0013 Diseasep.ILE344LYSSPASTIC PARAPLEGIA 4
OMIM604277.0007 Diseasep.LYS229TERSPASTIC PARAPLEGIA 4
OMIM604277.0017 Diseasep.PRO45GLNSPASTIC PARAPLEGIA 4, MODIFIER OF
OMIM604277.0021 Diseasep.SER445ARGSPASTIC PARAPLEGIA 4
OMIM604277.0001 Diseasep.SER362CYSSPASTIC PARAPLEGIA 4
OMIM604277.0015 Diseasep.SER44LEUSPASTIC PARAPLEGIA 4, MODIFIER OF



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