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Results for the Protein: Q9Y4W6
126302516

AFG32_HUMAN RecName: Full=AFG3-like protein 2; AltName: Full=Paraplegin-like protein

Known Diseases associated with this Protein:
  SPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE
  SPASTIC ATAXIA AUTOSOMAL RECESSIVE 5 (SPAX5)
  SPINOCEREBELLAR ATAXIA 28
  SPINOCEREBELLAR ATAXIA 28 (SCA28)
21
0
9
0
12
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Default View:

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


Swiss-Prot Protein: Q9Y4W6
Identical to: NP_006787
   Default View:











Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
SpoVKCOG04641e-5391571
HflBCOG04652.1e-276147753
RPT1COG12223.7e-59186566
COG1223COG12231.4e-20205564
AAAcd000091e-37314477
AAApfam000041.1e-66344477
Peptidase_M41pfam014341.2e-96561744
FtsH_extpfam064801.2e-09148242
AAA_2pfam077242.6e-05340471
AAAsmart003821.3e-24340479
AAA_5pfam077280.00079343469

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
Swiss-ProtVAR_063546Diseasep.ALA694GLUSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_063547Diseasep.ARG702GLNSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_063544Diseasep.ASN432THRSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_063545Diseasep.GLU691LYSSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064408Diseasep.GLU700LYSSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064407Diseasep.GLY671ARGSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064406Diseasep.GLY671GLUSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064403Diseasep.MET666ARGSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064404Diseasep.MET666THRSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064405Diseasep.MET666VALSpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_064402Diseasep.THR654ILESpinocerebellar ataxia 28 (SCA28)
Swiss-ProtVAR_067330Diseasep.TYR616CYSSpastic ataxia autosomal recessive 5 (SPAX5)
OMIM604581.0003 Diseasep.ALA694GLUSPINOCEREBELLAR ATAXIA 28
OMIM604581.0004 Diseasep.ARG702GLNSPINOCEREBELLAR ATAXIA 28
OMIM604581.0005 Diseasep.ASN432THRSPINOCEREBELLAR ATAXIA 28
OMIM604581.0001 Diseasep.GLU691LYSSPINOCEREBELLAR ATAXIA 28
OMIM604581.0008 Diseasep.GLY671ARGSPINOCEREBELLAR ATAXIA 28
OMIM604581.0007 Diseasep.MET666ARGSPINOCEREBELLAR ATAXIA 28
OMIM604581.0006 Diseasep.MET666VALSPINOCEREBELLAR ATAXIA 28
OMIM604581.0009 Diseasep.THR654ILESPINOCEREBELLAR ATAXIA 28
OMIM604581.0010 Diseasep.TYR616CYSSPASTIC ATAXIA 5, AUTOSOMAL RECESSIVE



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