KEGG   VARIANT: 3708v1
Entry
3708v1                      Variant                                
Name
ITPR1 activating mutation
Gene
ITPR1  inositol 1,4,5-trisphosphate receptor type 1 [KO:K04958]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutation V1547M
ClinVar: 39571
dbSNP: rs397514535
Variation
mutation N587D
ClinVar: 39572
dbSNP: rs397514536
Network
nt06462  Spinocerebellar ataxia
nt06466  Pathways of neurodegeneration
nt06528  Calcium signaling
Disease
H00063  Spinocerebellar ataxia (SCA)
Reference
  Authors
Klar J, Ali Z, Farooq M, Khan K, Wikstrom J, Iqbal M, Zulfiqar S, Faryal S, Baig SM, Dahl N
  Title
A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
  Journal
Eur J Hum Genet 25:848-853 (2017)
DOI:10.1038/ejhg.2017.54
Reference
  Authors
Zambonin JL, Bellomo A, Ben-Pazi H, Everman DB, Frazer LM, Geraghty MT, Harper AD, Jones JR, Kamien B, Kernohan K, Koenig MK, Lines M, Palmer EE, Richardson R, Segel R, Tarnopolsky M, Vanstone JR, Gibbons M, Collins A, Fogel BL, Dudding-Byth T, Boycott KM
  Title
Spinocerebellar ataxia type 29 due to mutations in ITPR1: a case series and review of this emerging congenital ataxia.
  Journal
Orphanet J Rare Dis 12:121 (2017)
DOI:10.1186/s13023-017-0672-7
Reference
  Authors
Tada M, Nishizawa M, Onodera O
  Title
Roles of inositol 1,4,5-trisphosphate receptors in spinocerebellar ataxias.
  Journal
Neurochem Int 94:1-8 (2016)
DOI:10.1016/j.neuint.2016.01.007
Reference
  Authors
Huang L, Chardon JW, Carter MT, Friend KL, Dudding TE, Schwartzentruber J, Zou R, Schofield PW, Douglas S, Bulman DE, Boycott KM
  Title
Missense mutations in ITPR1 cause autosomal dominant congenital nonprogressive spinocerebellar ataxia.
  Journal
Orphanet J Rare Dis 7:67 (2012)
DOI:10.1186/1750-1172-7-67
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