SCAN1
MCID: SPN430
MIFTS: 39

Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 (SCAN1)

Categories: Eye diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards integrated aliases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

Name: Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 57 72 29 6
Scan1 57 58 72 54
Spinocerebellar Ataxia with Axonal Neuropathy Type 1 58

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia with axonal neuropathy type 1
Inheritance: Autosomal recessive;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal recessive

Miscellaneous:
onset in the first or second decade
one saudi arabian family has been reported (last curated april 2019)


HPO:

31
spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1:
Inheritance autosomal recessive inheritance


Classifications:

Orphanet: 58  
Rare neurological diseases


Summaries for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

UniProtKB/Swiss-Prot : 72 Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1: A form of spinocerebellar ataxia, a clinically and genetically heterogeneous group of cerebellar disorders. Patients show progressive incoordination of gait and often poor coordination of hands, speech and eye movements, due to degeneration of the cerebellum with variable involvement of the brainstem and spinal cord. SCAN1 is an autosomal recessive cerebellar ataxia (ARCA) associated with peripheral axonal motor and sensory neuropathy, distal muscular atrophy, pes cavus and steppage gait as seen in Charcot-Marie-Tooth neuropathy. All affected individuals have normal intelligence.

MalaCards based summary : Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1, also known as scan1, is related to spinocerebellar ataxia type 1 with axonal neuropathy and axonal neuropathy. An important gene associated with Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 is TDP1 (Tyrosyl-DNA Phosphodiesterase 1), and among its related pathways/superpathways is DNA Damage. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are seizure and ataxia

OMIM® : 57 Spinocerebellar ataxia with axonal neuropathy-1 (SCAN1) is an autosomal recessive neurologic disorder characterized by onset of gait disturbances in the first or second decades of life. Affected individuals have cerebellar ataxia associated with cerebellar atrophy on brain imaging, as well as an axonal sensorimotor neuropathy with distal sensory impairment, hypo- or areflexia, pes cavus, and steppage gait (summary by Takashima et al., 2002). (607250) (Updated 20-May-2021)

Related Diseases for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:



Diseases related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1

Symptoms & Phenotypes for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Human phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

31 58 (show all 28)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 seizure 31 very rare (1%) HP:0001250
2 ataxia 58 31 Frequent (79-30%) HP:0001251
3 areflexia 58 31 Frequent (79-30%) HP:0001284
4 hypercholesterolemia 58 31 Frequent (79-30%) HP:0003124
5 pes cavus 58 31 Frequent (79-30%) HP:0001761
6 hypoalbuminemia 58 31 Frequent (79-30%) HP:0003073
7 steppage gait 58 31 Frequent (79-30%) HP:0003376
8 distal amyotrophy 58 31 Frequent (79-30%) HP:0003693
9 intellectual disability 58 Excluded (0%)
10 seizures 58 Occasional (29-5%)
11 dysarthria 31 HP:0001260
12 sensory neuropathy 31 HP:0000763
13 peripheral neuropathy 58 Frequent (79-30%)
14 hyporeflexia 31 HP:0001265
15 impaired distal proprioception 58 Frequent (79-30%)
16 distal lower limb muscle weakness 58 Frequent (79-30%)
17 cerebellar atrophy 31 HP:0001272
18 cerebral atrophy 31 HP:0002059
19 cerebellar vermis atrophy 58 Frequent (79-30%)
20 pain insensitivity 58 Frequent (79-30%)
21 distal sensory impairment 31 HP:0002936
22 spinocerebellar tract degeneration 58 Frequent (79-30%)
23 peripheral axonal neuropathy 31 HP:0003477
24 sensorimotor neuropathy 58 Frequent (79-30%)
25 spastic dysarthria 58 Frequent (79-30%)
26 global brain atrophy 58 Frequent (79-30%)
27 gaze-evoked nystagmus 58 Frequent (79-30%)
28 impaired vibration sensation in the lower limbs 58 Frequent (79-30%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Neurologic Central Nervous System:
dysarthria
steppage gait
cerebellar atrophy
cerebellar ataxia
seizures (in some patients)
more
Skeletal Feet:
pes cavus

Laboratory Abnormalities:
hypercholesterolemia, mild
hypoalbuminemia, mild

Neurologic Peripheral Nervous System:
areflexia
hyporeflexia
distal sensory impairment
axonal sensorimotor neuropathy
sural nerve biopsy shows loss of myelinated fibers

Muscle Soft Tissue:
distal muscle weakness due to sensory neuropathy

Clinical features from OMIM®:

607250 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-1 8.92 TDP1
2 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-2 8.92 TDP1
3 Synthetic lethal with MLN4924 (a NAE inhibitor) GR00250-A-3 8.92 TDP1 TOP1

Drugs & Therapeutics for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1

Genetic Tests for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Genetic tests related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 29 TDP1

Anatomical Context for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

MalaCards organs/tissues related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

40
Eye, Cerebellum, Spinal Cord, Brain, Bone, Breast, Prostate

Publications for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Articles related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

(show top 50) (show all 52)
# Title Authors PMID Year
1
Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. 6 57 61
12244316 2002
2
Defective DNA single-strand break repair in spinocerebellar ataxia with axonal neuropathy-1. 57 54 61
15744309 2005
3
Tyrosyl-DNA phosphodiesterase as a target for anticancer therapy. 61 54
18473723 2008
4
TDP1 facilitates repair of ionizing radiation-induced DNA single-strand breaks. 54 61
17600775 2007
5
Mutation of a conserved active site residue converts tyrosyl-DNA phosphodiesterase I into a DNA topoisomerase I-dependent poison. 54 61
17707402 2007
6
DNA single-strand break repair and spinocerebellar ataxia with axonal neuropathy-1. 54 61
17045754 2007
7
Hereditary ataxia SCAN1 cells are defective for the repair of transcription-dependent topoisomerase I cleavage complexes. 61 54
16935573 2006
8
SCAN1 mutant Tdp1 accumulates the enzyme--DNA intermediate and causes camptothecin hypersensitivity. 54 61
15920477 2005
9
Deficiency in 3'-phosphoglycolate processing in human cells with a hereditary mutation in tyrosyl-DNA phosphodiesterase (TDP1). 61 54
15647511 2005
10
Dehydroabietylamine-based thiazolidin-4-ones and 2-thioxoimidazolidin-4-ones as novel tyrosyl-DNA phosphodiesterase 1 inhibitors. 61
32833106 2020
11
Repeatability of radiomics and machine learning for DWI: Short-term repeatability study of 112 patients with prostate cancer. 61
31703155 2020
12
Identification of novel inhibitors for the tyrosyl-DNA-phosphodiesterase 1 (Tdp1) mutant SCAN1 using virtual screening. 61
31831297 2020
13
SCAN1-TDP1 trapping on mitochondrial DNA promotes mitochondrial dysfunction and mitophagy. 61
31723605 2019
14
Spinocerebellar ataxia with axonal neuropathy type 1 revisited. 61
31182267 2019
15
Prospective Study of Serial 18F-FDG PET and 18F-Fluoride PET to Predict Time to Skeletal-Related Events, Time to Progression, and Survival in Patients with Bone-Dominant Metastatic Breast Cancer. 61
29748233 2018
16
UCHL3 Regulates Topoisomerase-Induced Chromosomal Break Repair by Controlling TDP1 Proteostasis. 61
29898404 2018
17
Scan-rescan reproducibility of diastolic left ventricular kinetic energy, viscous energy loss and vorticity assessment using 4D flow MRI: analysis in healthy subjects. 61
29305740 2018
18
Subfunctionalization of duplicate MYB genes in Solanum commersonii generated the cold-induced ScAN2 and the anthocyanin regulator ScAN1. 61
28386931 2018
19
Reactive oxygen species stress increases accumulation of tyrosyl-DNA phsosphodiesterase 1 within mitochondria. 61
29523818 2018
20
Image enhancement technology in bronchoscopy: a prospective multicentre study in lung cancer. 61
29862031 2018
21
Pre-steady state kinetics of DNA binding and abasic site hydrolysis by tyrosyl-DNA phosphodiesterase 1. 61
27687298 2017
22
Longitudinal relationships among activity in attention redirection neural circuitry and symptom severity in youth. 61
28480336 2017
23
Reninoma coexisting with adrenal adenoma during pregnancy: A case report. 61
28521424 2017
24
Neurological disorders associated with DNA strand-break processing enzymes. 61
27470939 2017
25
Dysregulated human Tyrosyl-DNA phosphodiesterase I acts as cellular toxin. 61
27893431 2016
26
DNA-PK triggers histone ubiquitination and signaling in response to DNA double-strand breaks produced during the repair of transcription-blocking topoisomerase I lesions. 61
26578593 2016
27
Methadone-induced Damage to White Matter Integrity in Methadone Maintenance Patients: A Longitudinal Self-control DTI Study. 61
26794650 2016
28
Tyrosyl-DNA Phosphodiesterase I a critical survival factor for neuronal development and homeostasis. 61
27747316 2016
29
TDP1 promotes assembly of non-homologous end joining protein complexes on DNA. 61
25841101 2015
30
High definition bronchoscopy: a randomized exploratory study of diagnostic value compared to standard white light bronchoscopy and autofluorescence bronchoscopy. 61
25848883 2015
31
Tyrosyl-DNA phosphodiesterase I catalytic mutants reveal an alternative nucleophile that can catalyze substrate cleavage. 61
25609251 2015
32
Tracking the processing of damaged DNA double-strand break ends by ligation-mediated PCR: increased persistence of 3'-phosphoglycolate termini in SCAN1 cells. 61
24371269 2014
33
Expression profile and mitochondrial colocalization of Tdp1 in peripheral human tissues. 61
23536040 2013
34
A novel diagnostic tool reveals mitochondrial pathology in human diseases and aging. 61
23524341 2013
35
Tyrosyl-DNA phosphodiesterase 1 initiates repair of apurinic/apyrimidinic sites. 61
22522093 2012
36
Systems for lung volume standardization during static and dynamic MDCT-based quantitative assessment of pulmonary structure and function. 61
22555001 2012
37
Prospective, randomized, back-to-back trial evaluating the usefulness of i-SCAN in screening colonoscopy. 61
22381530 2012
38
Analysis of the active-site mechanism of tyrosyl-DNA phosphodiesterase I: a member of the phospholipase D superfamily. 61
22155078 2012
39
Tyrosyl-DNA phosphodiesterase and the repair of 3'-phosphoglycolate-terminated DNA double-strand breaks. 61
19505854 2009
40
Unrepaired oxidative DNA damage induces an ATR/ATM apoptotic-like response in quiescent fission yeast. 61
19571671 2009
41
In vitro complementation of Tdp1 deficiency indicates a stabilized enzyme-DNA adduct from tyrosyl but not glycolate lesions as a consequence of the SCAN1 mutation. 61
19211312 2009
42
Tdp1 protects against oxidative DNA damage in non-dividing fission yeast. 61
19197239 2009
43
Identification of phosphotyrosine mimetic inhibitors of human tyrosyl-DNA phosphodiesterase I by a novel AlphaScreen high-throughput assay. 61
19139134 2009
44
TDP1 facilitates chromosomal single-strand break repair in neurons and is neuroprotective in vivo. 61
17914460 2007
45
Spinocerebellar ataxia with axonal neuropathy: consequence of a Tdp1 recessive neomorphic mutation? 61
17948061 2007
46
Spinocerebellar Ataxia with Axonal Neuropathy, Autosomal Recessive – RETIRED CHAPTER, FOR HISTORICAL REFERENCE ONLY 61
20301284 2007
47
Defective DNA repair and neurodegenerative disease. 61
17889645 2007
48
[Molecular genetics of inherited neuropathies]. 61
17432174 2006
49
TDP1-dependent DNA single-strand break repair and neurodegeneration. 61
16775218 2006
50
[Molecular genetics of inherited neuropathies]. 61
16541790 2006

Variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

ClinVar genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

6 (show top 50) (show all 89)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 TDP1 NM_018319.4(TDP1):c.1478A>G (p.His493Arg) SNV Pathogenic 3424 rs119467003 GRCh37: 14:90459764-90459764
GRCh38: 14:89993420-89993420
2 TDP1 NM_018319.4(TDP1):c.1776del (p.Pro593fs) Deletion Pathogenic 1032035 GRCh37: 14:90509435-90509435
GRCh38: 14:90043091-90043091
3 TDP1 NM_018319.4(TDP1):c.910C>T (p.Arg304Ter) SNV Likely pathogenic 1030645 GRCh37: 14:90450885-90450885
GRCh38: 14:89984541-89984541
4 TDP1 NM_018319.4(TDP1):c.764T>G (p.Leu255Trp) SNV Uncertain significance 1032036 GRCh37: 14:90442132-90442132
GRCh38: 14:89975788-89975788
5 TDP1 NM_018319.4(TDP1):c.1747A>G (p.Ser583Gly) SNV Uncertain significance 314840 rs201355368 GRCh37: 14:90499552-90499552
GRCh38: 14:90033208-90033208
6 TDP1 NM_018319.4(TDP1):c.19T>C (p.Tyr7His) SNV Uncertain significance 314823 rs754747710 GRCh37: 14:90429477-90429477
GRCh38: 14:89963133-89963133
7 TDP1 NM_018319.4(TDP1):c.-55C>G SNV Uncertain significance 314820 rs751280891 GRCh37: 14:90423097-90423097
GRCh38: 14:89956753-89956753
8 TDP1 NM_018319.4(TDP1):c.884+5G>A SNV Uncertain significance 314829 rs370991229 GRCh37: 14:90446981-90446981
GRCh38: 14:89980637-89980637
9 TDP1 NM_018319.4(TDP1):c.*945C>T SNV Uncertain significance 314852 rs540904390 GRCh37: 14:90510432-90510432
GRCh38: 14:90044088-90044088
10 TDP1 NM_018319.4(TDP1):c.*776T>C SNV Uncertain significance 314849 rs761481355 GRCh37: 14:90510263-90510263
GRCh38: 14:90043919-90043919
11 TDP1 NM_018319.4(TDP1):c.*1355G>A SNV Uncertain significance 314855 rs755484553 GRCh37: 14:90510842-90510842
GRCh38: 14:90044498-90044498
12 TDP1 NM_018319.3(TDP1):c.-278C>T SNV Uncertain significance 314812 rs886050880 GRCh37: 14:90422267-90422267
GRCh38: 14:89955923-89955923
13 TDP1 NM_018319.4(TDP1):c.*264G>T SNV Uncertain significance 314844 rs779122283 GRCh37: 14:90509751-90509751
GRCh38: 14:90043407-90043407
14 TDP1 NM_018319.4(TDP1):c.716A>G (p.His239Arg) SNV Uncertain significance 314827 rs750038981 GRCh37: 14:90437575-90437575
GRCh38: 14:89971231-89971231
15 TDP1 NM_018319.3(TDP1):c.-292G>T SNV Uncertain significance 314810 rs577403021 GRCh37: 14:90422253-90422253
GRCh38: 14:89955909-89955909
16 TDP1 NM_018319.4(TDP1):c.*1015G>A SNV Uncertain significance 314853 rs374734859 GRCh37: 14:90510502-90510502
GRCh38: 14:90044158-90044158
17 TDP1 NM_018319.4(TDP1):c.885-15T>C SNV Uncertain significance 314830 rs375601290 GRCh37: 14:90450845-90450845
GRCh38: 14:89984501-89984501
18 TDP1 NM_018319.3(TDP1):c.-275C>G SNV Uncertain significance 314813 rs886050881 GRCh37: 14:90422270-90422270
GRCh38: 14:89955926-89955926
19 TDP1 NM_018319.4(TDP1):c.1342C>T (p.Arg448Trp) SNV Uncertain significance 314836 rs141725364 GRCh37: 14:90456085-90456085
GRCh38: 14:89989741-89989741
20 TDP1 NM_018319.4(TDP1):c.15C>T (p.Gly5=) SNV Uncertain significance 314822 rs779666160 GRCh37: 14:90429473-90429473
GRCh38: 14:89963129-89963129
21 TDP1 NM_018319.4(TDP1):c.-76T>C SNV Uncertain significance 314819 rs886050883 GRCh37: 14:90423076-90423076
GRCh38: 14:89956732-89956732
22 TDP1 NM_018319.4(TDP1):c.789C>T (p.His263=) SNV Uncertain significance 314828 rs562317662 GRCh37: 14:90442157-90442157
GRCh38: 14:89975813-89975813
23 TDP1 NM_018319.4(TDP1):c.*774G>A SNV Uncertain significance 314848 rs372910082 GRCh37: 14:90510261-90510261
GRCh38: 14:90043917-90043917
24 TDP1 NM_018319.4(TDP1):c.*1203G>T SNV Uncertain significance 314854 rs531417402 GRCh37: 14:90510690-90510690
GRCh38: 14:90044346-90044346
25 TDP1 NM_018319.4(TDP1):c.1343G>A (p.Arg448Gln) SNV Uncertain significance 314837 rs144746398 GRCh37: 14:90456086-90456086
GRCh38: 14:89989742-89989742
26 TDP1 NM_018319.4(TDP1):c.1611C>G (p.Tyr537Ter) SNV Uncertain significance 631546 rs772318046 GRCh37: 14:90485729-90485729
GRCh38: 14:90019385-90019385
27 TDP1 NM_018319.4(TDP1):c.896del (p.Ser299fs) Deletion Uncertain significance 631721 rs773960264 GRCh37: 14:90450871-90450871
GRCh38: 14:89984527-89984527
28 TDP1 NM_018319.4(TDP1):c.1799C>T (p.Thr600Met) SNV Uncertain significance 314841 rs772139596 GRCh37: 14:90509459-90509459
GRCh38: 14:90043115-90043115
29 TDP1 NM_018319.4(TDP1):c.-8+15T>C SNV Uncertain significance 885077 GRCh37: 14:90423159-90423159
GRCh38: 14:89956815-89956815
30 TDP1 NM_018319.4(TDP1):c.25A>G (p.Arg9Gly) SNV Uncertain significance 885078 GRCh37: 14:90429483-90429483
GRCh38: 14:89963139-89963139
31 TDP1 NM_018319.4(TDP1):c.68C>T (p.Pro23Leu) SNV Uncertain significance 885079 GRCh37: 14:90429526-90429526
GRCh38: 14:89963182-89963182
32 TDP1 NM_018319.4(TDP1):c.84A>G (p.Pro28=) SNV Uncertain significance 885080 GRCh37: 14:90429542-90429542
GRCh38: 14:89963198-89963198
33 TDP1 NM_018319.4(TDP1):c.137A>G (p.Tyr46Cys) SNV Uncertain significance 805648 rs141387488 GRCh37: 14:90429595-90429595
GRCh38: 14:89963251-89963251
34 TDP1 NM_018319.4(TDP1):c.*37T>C SNV Uncertain significance 885154 GRCh37: 14:90509524-90509524
GRCh38: 14:90043180-90043180
35 TDP1 NM_018319.4(TDP1):c.*134A>C SNV Uncertain significance 885155 GRCh37: 14:90509621-90509621
GRCh38: 14:90043277-90043277
36 TDP1 NM_018319.4(TDP1):c.*135T>C SNV Uncertain significance 885156 GRCh37: 14:90509622-90509622
GRCh38: 14:90043278-90043278
37 TDP1 NM_018319.4(TDP1):c.*228T>G SNV Uncertain significance 885157 GRCh37: 14:90509715-90509715
GRCh38: 14:90043371-90043371
38 TDP1 NM_018319.4(TDP1):c.*904C>T SNV Uncertain significance 314851 rs886050884 GRCh37: 14:90510391-90510391
GRCh38: 14:90044047-90044047
39 TDP1 NM_018319.4(TDP1):c.*1511C>G SNV Uncertain significance 885230 GRCh37: 14:90510998-90510998
GRCh38: 14:90044654-90044654
40 TDP1 NM_018319.4(TDP1):c.208T>A (p.Ser70Thr) SNV Uncertain significance 196488 rs140058160 GRCh37: 14:90429666-90429666
GRCh38: 14:89963322-89963322
41 TDP1 NM_018319.4(TDP1):c.236G>C (p.Ser79Thr) SNV Uncertain significance 805649 rs148927677 GRCh37: 14:90429694-90429694
GRCh38: 14:89963350-89963350
42 TDP1 NM_018319.4(TDP1):c.353C>T (p.Ala118Val) SNV Uncertain significance 885996 GRCh37: 14:90429811-90429811
GRCh38: 14:89963467-89963467
43 TDP1 NM_018319.4(TDP1):c.643T>C (p.Tyr215His) SNV Uncertain significance 885997 GRCh37: 14:90433750-90433750
GRCh38: 14:89967406-89967406
44 TDP1 NM_018319.4(TDP1):c.*496G>A SNV Uncertain significance 886062 GRCh37: 14:90509983-90509983
GRCh38: 14:90043639-90043639
45 TDP1 NM_018319.4(TDP1):c.*631C>T SNV Uncertain significance 886065 GRCh37: 14:90510118-90510118
GRCh38: 14:90043774-90043774
46 TDP1 NM_018319.4(TDP1):c.-264G>A SNV Uncertain significance 886936 GRCh37: 14:90422281-90422281
GRCh38: 14:89955937-89955937
47 TDP1 NM_018319.4(TDP1):c.-243C>T SNV Uncertain significance 886937 GRCh37: 14:90422302-90422302
GRCh38: 14:89955958-89955958
48 TDP1 NM_018319.4(TDP1):c.757G>A (p.Ala253Thr) SNV Uncertain significance 886996 GRCh37: 14:90442125-90442125
GRCh38: 14:89975781-89975781
49 TDP1 NM_018319.4(TDP1):c.998C>T (p.Pro333Leu) SNV Uncertain significance 886997 GRCh37: 14:90450973-90450973
GRCh38: 14:89984629-89984629
50 TDP1 NM_018319.4(TDP1):c.*801G>A SNV Uncertain significance 887062 GRCh37: 14:90510288-90510288
GRCh38: 14:90043944-90043944

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1:

72
# Symbol AA change Variation ID SNP ID
1 TDP1 p.His493Arg VAR_017144 rs119467003

Expression for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Search GEO for disease gene expression data for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1.

Pathways for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Pathways related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.09 TOP1 TDP1

GO Terms for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

Molecular functions related to Spinocerebellar Ataxia, Autosomal Recessive, with Axonal Neuropathy 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 double-stranded DNA binding GO:0003690 8.96 TOP1 TDP1
2 single-stranded DNA binding GO:0003697 8.62 TOP1 TDP1

Sources for Spinocerebellar Ataxia, Autosomal Recessive, with Axonal...

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