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

• KIAA0196KIAA0196

• Detail information

  Gene Symbol	KIAA0196
  Full name	KIAA0196
  Synonym	MGC111053, SPG8
  Genome position	chromosome: 8; Location: 8q24.13 126104060 .. 126036501 (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_055661.3
  
  mRNA : NM_014846.3

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  Multiple alignments of all patients' sequences   (Registration is needed to see this information, because unpublished data is contained.)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

  3D Structure data is not found.
• Top

• Structure information

  Exon	Start AA	End AA	Structure
  1, 2, 3, 4, 5, 6, 7, 8, 9, 10, 11, 12, 13, 14, 15, 16, 17, 18, 19, 20, 21, 22, 23, 24, 25, 26, 27, 28	1	1159	Chain
  11	471	471	Sequence variant
  14	619	619	Sequence variant
  15	626	626	Sequence variant
  5	229	229	Sequence conflict

• Overview of mutations

  show new window   (Registration is needed to see this information, because unpublished data is contained.)