rs61755320
|
|
|
0.720 |
GeneticVariation |
BEFREE |
The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.
|
30044948 |
2018 |
rs61755320
|
|
|
0.720 |
GeneticVariation |
BEFREE |
Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation.
|
26506339 |
2015 |
rs116171274
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous R486C mutation in CYP7B1 (SPG5).
|
27879216 |
2016 |
rs121908613
|
|
|
0.710 |
GeneticVariation |
BEFREE |
Generation of induced pluripotent stem cells (iPSCs) from a hereditary spastic paraplegia patient carrying a homozygous Y275X mutation in CYP7B1 (SPG5).
|
27879220 |
2016 |
rs66468541
|
|
|
0.020 |
GeneticVariation |
BEFREE |
We have previously reported the association of a mutation (c.292G > A/p.V98I) in the human HSPD1 gene that encodes the mitochondrial Hsp60 chaperonin with a dominantly inherited form of hereditary spastic paraplegia.
|
18400758 |
2008 |
rs66468541
|
|
|
0.020 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
rs1265011107
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
rs1313275799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
A novel homozygous p.R1105X mutation of the AP4E1 gene in twins with hereditary spastic paraplegia and mycobacterial disease.
|
23472171 |
2013 |
rs1331686243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
|
16795073 |
2006 |
rs1377512692
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.
|
30044948 |
2018 |
rs367916692
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5.
|
24658845 |
2014 |
rs372702043
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.
|
30044948 |
2018 |
rs537742207
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An hsp60 D3G mutation leads to MitCHAP-60, an early onset neurodegenerative disease while hsp60 V72I has been linked to SPG13, a form of hereditary spastic paraplegia.
|
31444388 |
2019 |
rs587777132
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Infantile-onset ascending hereditary spastic paraplegia with bulbar involvement due to the novel ALS2 mutation c.2761C>T.
|
24315819 |
2014 |
rs587777757
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia.
|
16476945 |
2006 |
rs770388772
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The authors report a nucleotide substitution (c.1216A>G) in SPG4 (spastin) causing hereditary spastic paraplegia.
|
16476945 |
2006 |
rs864622269
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Six patients with an SPG3A mutation (F151S, Q191R, M408T, G469A, R495W) originating from 5 unrelated families presented with a complex form of hereditary spastic paraplegia associated with a neuropathy (17%).
|
17502470 |
2007 |
rs878854991
|
|
|
0.010 |
GeneticVariation |
BEFREE |
An extensive genetic analysis identified a specific class of heterozygous germline mutation in SPAST, p.(Arg499His), which is responsible for hereditary spastic paraplegia with infantile onset.
|
31698101 |
2019 |
rs890815306
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The TmFtsH A359V mutation, a homolog of the human pathogenic A510V mutation of paraplegin (SPG7) causing hereditary spastic paraplegia, does not affect the dynamic behavior of the protease but impairs the ATP-coupled domain compaction and, thus, may account for protease malfunctioning and pathogenesis in hereditary spastic paraplegia.
|
30044948 |
2018 |
rs897755799
|
|
|
0.010 |
GeneticVariation |
BEFREE |
The patient was homozygous for a mutation (c.1249C>T) in CYP7B1 that alters a highly conserved residue in oxysterol 7 α-hydroxylase (p.R417C) - previously reported in a family with hereditary spastic paraplegia type 5.
|
24658845 |
2014 |
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
SPG7 mutational screening in spastic paraplegia patients supports a dominant effect for some mutations and a pathogenic role for p.A510V.
|
22571692 |
2013 |
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Autosomal recessive hereditary spastic paraplegia-clinical and genetic characteristics of a well-defined cohort.
|
23733235 |
2013 |
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients.
|
21623769 |
2011 |
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene.
|
29057857 |
2017 |
rs61755320
|
|
T |
0.720 |
CausalMutation |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |