SPTBN2, spectrin beta, non-erythrocytic 2, 6712

N. diseases: 79; N. variants: 11
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation BEFREE Previously, a SCA5 mutation resulting in a leucine-to-proline substitution (L253P) in the actin-binding domain (ABD) was shown to cause a 1000-fold increase in actin-binding affinity. 29116080 2017
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation BEFREE A spinocerebellar ataxia type 5 (SCA5) L253P mutation in the actin-binding domain (ABD) of β-III-spectrin causes high-affinity actin binding and decreased thermal stability in vitro. 29078305 2017
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation BEFREE Here we investigated the molecular consequence of a SCA5 missense mutation that results in a L253P substitution in the actin-binding domain (ABD) of β-III-spectrin. 26883385 2016
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation UNIPROT Case of infantile onset spinocerebellar ataxia type 5. 22914369 2013
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation BEFREE Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 20603325 2010
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.840 GeneticVariation UNIPROT Spectrin mutations cause spinocerebellar ataxia type 5. 16429157 2006
dbSNP: rs121918306
rs121918306
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		G 0.840 CausalMutation CLINVAR
dbSNP: rs397514749
rs397514749
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.800 GeneticVariation UNIPROT Case of infantile onset spinocerebellar ataxia type 5. 22914369 2013
dbSNP: rs397514749
rs397514749
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.800 GeneticVariation UNIPROT EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 20050888 2010
dbSNP: rs397514749
rs397514749
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		0.800 GeneticVariation UNIPROT Spectrin mutations cause spinocerebellar ataxia type 5. 16429157 2006
dbSNP: rs397514749
rs397514749
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0752123
Disease:
Spinocerebellar Ataxia Type 5 		A 0.800 CausalMutation CLINVAR
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Progressive SCAR14 with unclear speech, developmental delay, tremor, and behavioral problems caused by a homozygous deletion of the SPTBN2 pleckstrin homology domain. 28636205 2017
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Autosomal dominant SCA5 and autosomal recessive infantile SCA are allelic conditions resulting from SPTBN2 mutations. 23838597 2014
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Case of infantile onset spinocerebellar ataxia type 5. 22914369 2013
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Recessive mutations in SPTBN2 implicate β-III spectrin in both cognitive and motor development. 23236289 2012
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR β-III spectrin is critical for development of purkinje cell dendritic tree and spine morphogenesis. 22090485 2011
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Loss of beta-III spectrin leads to Purkinje cell dysfunction recapitulating the behavior and neuropathology of spinocerebellar ataxia type 5 in humans. 20371805 2010
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Beta-III spectrin mutation L253P associated with spinocerebellar ataxia type 5 interferes with binding to Arp1 and protein trafficking from the Golgi. 20603325 2010
dbSNP: rs769987150
rs769987150
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0026827
Disease:
Muscle hypotonia 		A 0.700 GeneticVariation CLINVAR Spectrin mutations cause spinocerebellar ataxia type 5. 16429157 2006
dbSNP: rs145522851
rs145522851
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0392702
Disease:
Abnormal involuntary movement 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs145522851
rs145522851
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C3809327
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs145522851
rs145522851
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C0339666
Disease:
Nystagmus and other irregular eye movements 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs145522851
rs145522851
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C4551521
Disease:
Kinetic tremor 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs146859515
rs146859515
Entrez Id: 6712
Gene Symbol: SPTBN2
SPTBN2
CUI: C3809327
Disease:
SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14 		T 0.700 CausalMutation CLINVAR