|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
|
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 |
The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.
|
23269439 |
2013 |
|
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 |
|
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia.
|
28362824 |
2017 |
|
rs760818649
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
SPG7 mutations are a common cause of undiagnosed ataxia.
|
25681447 |
2015 |
|
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 |
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
|
23065789 |
2012 |
|
rs760818649
|
|
GC |
0.700 |
CausalMutation |
CLINVAR |
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy.
|
23065789 |
2012 |
|
rs768136171
|
|
C |
0.700 |
CausalMutation |
CLINVAR |
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease.
|
9635427 |
1998 |
|
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 |
|
rs1085307110
|
|
CATGTCGATAGATACAGCACATGTCGATA |
0.700 |
CausalMutation |
CLINVAR |
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
|
28488683 |
2017 |
|
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes.
|
18799786 |
2008 |
|
rs1331686243
|
|
|
0.010 |
GeneticVariation |
BEFREE |
Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia.
|
16795073 |
2006 |
|
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia.
|
16534102 |
2006 |
|
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 |
|
rs61755320
|
|
T |
0.720 |
GeneticVariation |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
rs116171274
|
|
A |
0.710 |
CausalMutation |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |
|
rs121908613
|
|
T |
0.710 |
CausalMutation |
CLINVAR |
Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
|
28832565 |
2017 |