HSP mutation database

Table of contents

• Detail information
• Sequence information
• Mutation Search
• Mutation & Clinical information
• Multiple alignments
• 3D structure
• Structure information
• Overview of mutations
• Reference information

Causative genes

• NIPA1
• SPG20
• BSCL2
• HSPD1
• KIF5A
• L1CAM
• SPG3A
• SPG21
• PLP1
• REEP1
• SPAST
• SPG7
• KIAA0196

Related genes

Link

• PubMed
• OMIM
• Ensembl
• PDB
• JSNP
• Spastic Paraplegia Foundation

• SPG20spastic paraplegia 20 (Troyer syndrome)

• Detail information

  Gene Symbol	SPG20
  Full name	spastic paraplegia 20 (Troyer syndrome)
  Synonym	KIAA0610, SPARTIN, TAHCCP1
  Genome position	chromosome: 13; Location: 13q13.3 36920452 .. 36875774 (strand : -)
  Links	EntrezGene UCSC OMIM

  
  The GRCh37/hg19 sequence assembly is used for the human genomic reference sequence.
  

• Sequence information

  Exon : Intron 100:1 50:1 10:1 3:1 1:1   Age onset & duration hide show
  
  expanded image
  
  
  
  
  a.a. : NP_055902.1
  
  mRNA : NM_015087.3

• Mutation Search

  Go to Mutation Search menu

• Mutation & Clinical information

  show new window
  
  Switch : Mutation Data only / Simple mode / Detail mode / Experimental Data only

• Multiple alignments

  Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)
  
  Multiple alignments of orthologous sequences

• 3D structure

  show 2dl1.pdb
• Top

• Structure information

  Exon	Start AA	End AA	Structure
  1, 2, 3, 4, 5, 6, 7, 8	1	666	Chain
  1	16	94	Domain
  1	69	69	Sequence conflict
  4	417	417	Sequence conflict

• Overview of mutations

  show new window   (Registration is needed to see this information, because unpublished data is contained.)