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Results for the Protein: Q9UQ90
116242796

SPG7_HUMAN RecName: Full=Paraplegin; AltName: Full=Spastic paraplegia 7 protein

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
  SPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE (SPG7)
9
13
5
3
14
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Default View:

SpoVK - COG0464
FtsH_ext - pfam06480
HflB - COG0465
RPT1 - COG1222
COG1223 - COG1223
AAA - cd00009
AAA_2 - pfam07724
AAA - smart00382
AAA_5 - pfam07728
AAA - pfam00004
Peptidase_M41 - pfam01434


Swiss-Prot Protein: Q9UQ90
Identical to: NP_003110
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
HflBCOG04652.9e-207142755
RPT1COG12222.4e-39179566
COG1223COG12237e-19211565
AAAcd000092.8e-38312479
AAApfam000043.2e-60345479
Peptidase_M41pfam014342.7e-100561746
FtsH_extpfam064808.1e-11141242
AAA_2pfam077240.00025341474
AAAsmart003829.7e-21341481
AAA_5pfam077280.00044344474

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063603Polymorphismp.ALA2THRN/A
Swiss-ProtVAR_063613Polymorphismp.ALA603THRN/A
Swiss-ProtVAR_063609Diseasep.ALA510VALSpastic paraplegia 7, autosomal recessive (SPG7)
Swiss-ProtVAR_063608Polymorphismp.ARG486GLNN/A
dbSNPrs12960 Polymorphismp.ARG688GLNN/A
Swiss-ProtVAR_063606Polymorphismp.ARG294HISN/A
dbSNPrs35749032 Polymorphismp.ASN730ASPN/A
Swiss-ProtVAR_063615Polymorphismp.ASP650HISN/A
Swiss-ProtVAR_063607Diseasep.GLY349SERSpastic paraplegia 7, autosomal recessive (SPG7)
Swiss-ProtVAR_048117Polymorphismp.PHE623CYSN/A
Swiss-ProtVAR_063610Polymorphismp.PHE545LEUN/A
Swiss-ProtVAR_063605Polymorphismp.PHE284PRON/A
Swiss-ProtVAR_063614Polymorphismp.SER635LEUN/A
Swiss-ProtVAR_059086Polymorphismp.SER645THRN/A
Swiss-ProtVAR_045898Diseasep.SER692THRSpastic paraplegia 7, autosomal recessive (SPG7)
dbSNPrs2292954 Polymorphismp.THR503ALAN/A
Swiss-ProtVAR_063612Diseasep.TRP583CYSSpastic paraplegia 7, autosomal recessive (SPG7)
OMIM602783.0012 Diseasep.ALA510VALSPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
OMIM602783.0010 Diseasep.GLY349SERSPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
OMIM602783.0007 Diseasep.LEU78TERSPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
OMIM602783.0006 Diseasep.SER692THRSPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE
OMIM602783.0011 Diseasep.TRP583CYSSPASTIC PARAPLEGIA 7, AUTOSOMAL RECESSIVE



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