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Results for the Protein: NP_955468
40806170

spastin isoform 2 [Homo sapiens]

Known Diseases associated with this Protein:
  SPASTIC PARAPLEGIA 4
  SPASTIC PARAPLEGIA 4, MODIFIER OF
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Default View:

SpoVK - COG0464
MIT_spastin - cd02679
MIT - smart00745
MIT - cd02656
MIT - pfam04212
RPT1 - COG1222
HflB - COG0465
COG1223 - COG1223
AAA - cd00009
AAA - smart00382
AAA_5 - pfam07728
AAA - pfam00004


RefSeq Protein: NP_955468
   Default View:










Domains found on the Protein

Domain ↕CD Accession ↕E-Value ↕Start ↕End ↕
MIT_spastincd026796.7e-40116195
MITcd026566e-14118193
RPT1COG12226.3e-20151573
HflBCOG04653.7e-08182582
COG1223COG12231.8e-15262573
AAAcd000091.3e-37313476
MITpfam042122.4e-22119195
AAApfam000042.2e-56346476
MITsmart007452.9e-24116193
AAAsmart003824.6e-18342478
AAA_5pfam077280.00022345468

Table of Mutations found on the Protein

Source ↕Mut_ID ↕Class ↕HGVS ↕Disease ↕
OMIM604277.0004 Diseasep.ARG467CYSSPASTIC PARAPLEGIA 4
OMIM604277.0018 Diseasep.ARG530GLYSPASTIC PARAPLEGIA 4
OMIM604277.0014 Diseasep.ASN354SERSPASTIC PARAPLEGIA 4
OMIM604277.0009 Diseasep.ASP409GLYSPASTIC PARAPLEGIA 4
OMIM604277.0016 Diseasep.ASP438VALSPASTIC PARAPLEGIA 4
OMIM604277.0002 Diseasep.CYS416TYRSPASTIC PARAPLEGIA 4
OMIM604277.0013 Diseasep.ILE312LYSSPASTIC PARAPLEGIA 4
OMIM604277.0007 Diseasep.LYS197TERSPASTIC PARAPLEGIA 4
OMIM604277.0017 Diseasep.PRO45GLNSPASTIC PARAPLEGIA 4, MODIFIER OF
OMIM604277.0021 Diseasep.SER413ARGSPASTIC PARAPLEGIA 4
OMIM604277.0001 Diseasep.SER330CYSSPASTIC PARAPLEGIA 4
OMIM604277.0015 Diseasep.SER44LEUSPASTIC PARAPLEGIA 4, MODIFIER OF



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