SCA14
MCID: SPN312
MIFTS: 45

Spinocerebellar Ataxia 14 (SCA14)

Categories: Ear diseases, Eye diseases, Fetal diseases, Genetic diseases, Liver diseases, Mental diseases, Metabolic diseases, Muscle diseases, Neuronal diseases, Rare diseases, Skin diseases

Aliases & Classifications for Spinocerebellar Ataxia 14

MalaCards integrated aliases for Spinocerebellar Ataxia 14:

Name: Spinocerebellar Ataxia 14 56 52 73 29 13 6 71
Sca14 56 24 52 58 73 54
Spinocerebellar Ataxia Type 14 12 24 52 58 15
Ataxia, Spinocerebellar, Type 14 39

Characteristics:

Orphanet epidemiological data:

58
spinocerebellar ataxia type 14
Inheritance: Autosomal dominant; Prevalence: <1/1000000 (Worldwide);

OMIM:

56
Miscellaneous:
slow progression
incomplete penetrance
mean age of onset 31 years (range 5-60)

Inheritance:
autosomal dominant


HPO:

31
spinocerebellar ataxia 14:
Inheritance autosomal dominant inheritance
Onset and clinical course slow progression incomplete penetrance


GeneReviews:

24
Penetrance Too few families have been studied to specify the penetrance or to determine if decreased penetrance is related to specific pathogenic variants. however, clinically unaffected individuals with prkcg pathogenic variants who are older than age 60 years have been described in at least two families [yabe et al 2003, chen et al 2005]. in general, penetrance is high when late-onset cases are included [klebe et al 2005].

Classifications:

Orphanet: 58  
Rare neurological diseases


External Ids:

Disease Ontology 12 DOID:0050964
OMIM 56 605361
OMIM Phenotypic Series 56 PS164400
MeSH 43 D020754
MESH via Orphanet 44 C537196
ICD10 via Orphanet 33 G11.2
UMLS via Orphanet 72 C1854369
Orphanet 58 ORPHA98763
MedGen 41 C1854369
UMLS 71 C1854369

Summaries for Spinocerebellar Ataxia 14

NIH Rare Diseases : 52 The following summary is from Orphanet , a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 98763 Definition Spinocerebellar ataxia type 14 (SCA14) is a rare mild subtype of type I autosomal dominant cerebellar ataxia (ADCA type I; see this term). It is characterized by slowly progressive ataxia, dysarthria and nystagmus . Epidemiology The disease has been reported in more than twenty families from Europe, the United States, and Australia. Clinical description Onset is usually in early adulthood while symptomatic disease onset may be from 10 to 70 years (mean = 33.9 years). In addition to cerebellar signs, hyperreflexia and decreased vibration sense are frequently observed. Some patients have cognitive impairment, parkinsonism characterized by rigidity, as well as focal dystonia , axial myoclonus, facial myokymia, choreic movement of hands and epilepsy . Etiology SCA14 is caused by missense mutations in the PRKCG gene (19q13.4) encoding protein kinase C gamma (PKC-gamma). Prognosis Prognosis is good. Some patients need supportive devices such as a cane or wheelchair for gait impairment. However, several affected patients have lived beyond 80 years of age. Visit the Orphanet disease page for more resources.

MalaCards based summary : Spinocerebellar Ataxia 14, also known as sca14, is related to dystonia and autosomal dominant cerebellar ataxia, and has symptoms including gait ataxia and memory loss. An important gene associated with Spinocerebellar Ataxia 14 is PRKCG (Protein Kinase C Gamma), and among its related pathways/superpathways are Dopamine-DARPP32 Feedback onto cAMP Pathway and Development Ligand-independent activation of ESR1 and ESR2. Affiliated tissues include eye, cerebellum and spinal cord, and related phenotypes are gait ataxia and generalized hypotonia

Disease Ontology : 12 An autosomal dominant cerebellar ataxia that is characterized by progressive ataxia, dysarthria and dysphagia, has material basis in mutation in the PRKCG gene.

UniProtKB/Swiss-Prot : 73 Spinocerebellar ataxia 14: Spinocerebellar ataxia is 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. SCA14 is an autosomal dominant cerebellar ataxia (ADCA).

More information from OMIM: 605361 PS164400
GeneReviews: NBK1399

Related Diseases for Spinocerebellar Ataxia 14

Diseases in the Spinocerebellar Ataxia 6 family:

Spinocerebellar Ataxia 31 Spinocerebellar Ataxia 29
Spinocerebellar Ataxia 34 Spinocerebellar Ataxia 1
Spinocerebellar Ataxia 7 Spinocerebellar Ataxia 2
Spinocerebellar Ataxia, Autosomal Recessive 2 Spinocerebellar Ataxia, Autosomal Recessive 3
Spinocerebellar Ataxia 4 Spinocerebellar Ataxia 5
Spinocerebellar Ataxia 10 Spinocerebellar Ataxia 12
Spinocerebellar Ataxia 11 Spinocerebellar Ataxia 13
Spinocerebellar Ataxia 14 Spinocerebellar Ataxia 15
Spinocerebellar Ataxia 17 Spinocerebellar Ataxia, Autosomal Recessive 4
Spinocerebellar Ataxia 19 Spinocerebellar Ataxia 21
Spinocerebellar Ataxia 18 Spinocerebellar Ataxia, Autosomal Recessive 6
Spinocerebellar Ataxia 20 Spinocerebellar Ataxia 25
Spinocerebellar Ataxia 8 Spinocerebellar Ataxia, Autosomal Recessive 7
Spinocerebellar Ataxia 26 Spinocerebellar Ataxia 27
Spinocerebellar Ataxia 23 Spinocerebellar Ataxia 28
Spinocerebellar Ataxia, Autosomal Recessive 8 Spinocerebellar Ataxia 9
Spinocerebellar Ataxia 30 Spinocerebellar Ataxia, Autosomal Recessive 10
Spinocerebellar Ataxia 35 Spinocerebellar Ataxia 32
Spinocerebellar Ataxia 36 Spinocerebellar Ataxia, Autosomal Recessive 11
Spinocerebellar Ataxia, Autosomal Recessive 12 Spinocerebellar Ataxia, Autosomal Recessive 13
Spinocerebellar Ataxia, Autosomal Recessive 14 Spinocerebellar Ataxia, Autosomal Recessive 15
Spinocerebellar Ataxia, Autosomal Recessive 16 Spinocerebellar Ataxia 37
Spinocerebellar Ataxia 38 Spinocerebellar Ataxia 40
Spinocerebellar Ataxia, Autosomal Recessive 17 Spinocerebellar Ataxia, Autosomal Recessive 18
Spinocerebellar Ataxia, Autosomal Recessive 20 Spinocerebellar Ataxia 41
Spinocerebellar Ataxia, Autosomal Recessive 21 Spinocerebellar Ataxia 42
Spinocerebellar Ataxia, Autosomal Recessive 22 Spinocerebellar Ataxia, Autosomal Recessive 23
Spinocerebellar Ataxia 43 Spinocerebellar Ataxia, Autosomal Recessive 24
Spinocerebellar Ataxia, Autosomal Recessive 25 Spinocerebellar Ataxia, Autosomal Recessive 26
Spinocerebellar Ataxia 44 Spinocerebellar Ataxia 45
Spinocerebellar Ataxia 46 Spinocerebellar Ataxia 47
Spinocerebellar Ataxia 48 Spinocerebellar Ataxia, Autosomal Recessive 27
Spinocerebellar Ataxia Type 19/22 Grid2-Related Spinocerebellar Ataxia
Spinocerebellar Ataxia Autosomal Recessive 5

Diseases related to Spinocerebellar Ataxia 14 via text searches within MalaCards or GeneCards Suite gene sharing:

(show all 36)
# Related Disease Score Top Affiliating Genes
1 dystonia 29.3 PRKCG PDYN CACNA1A APTX
2 autosomal dominant cerebellar ataxia 29.1 TMEM240 PRKCG PDYN CACNA1A APTX
3 cerebellar disease 29.1 PRKCG PDYN CACNA1A APTX
4 aceruloplasminemia 29.1 PRKCG PDYN CACNA1A APTX
5 hereditary ataxia 28.3 TRPC3 TMEM240 PRKCG PDYN CACNA1A APTX
6 spinocerebellar ataxia, autosomal recessive 14 11.4
7 dystonia 11, myoclonic 11.3
8 ataxia and polyneuropathy, adult-onset 10.4
9 spinocerebellar ataxia 1 10.2 PRKCG CACNA1A
10 focal dystonia 10.1
11 cervical dystonia 10.1
12 retinal degeneration 10.1
13 myoclonus 10.1
14 tremor 10.1
15 alzheimer disease 10.1
16 multiple system atrophy 1 10.1
17 kearns-sayre syndrome 10.1
18 dystonia, focal, task-specific 10.1
19 movement disease 10.1
20 peripheral nervous system disease 10.1
21 paraplegia 10.1
22 prion disease 10.1
23 neuropathy 10.1
24 sgce myoclonus-dystonia 10.1
25 dysphagia 10.1
26 spasticity 10.1
27 huntington disease 10.0
28 pathologic nystagmus 10.0
29 spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 9.9 CACNA1A APTX
30 mental retardation, x-linked, with cerebellar hypoplasia and distinctive facial appearance 9.9 CACNA1A APTX
31 spinocerebellar ataxia 27 9.9 TMEM240 CACNA1A
32 episodic ataxia, type 2 9.9 PRKCG CACNA1A
33 spinocerebellar ataxia 4 9.8 TMEM240 PDYN
34 spinocerebellar ataxia 23 9.8 TMEM240 PDYN
35 spinocerebellar ataxia 6 9.6 PRKCG PDYN CACNA1A
36 ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia 9.6 CACNA1A APTX

Graphical network of the top 20 diseases related to Spinocerebellar Ataxia 14:



Diseases related to Spinocerebellar Ataxia 14

Symptoms & Phenotypes for Spinocerebellar Ataxia 14

Human phenotypes related to Spinocerebellar Ataxia 14:

58 31 (show all 27)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 gait ataxia 58 31 hallmark (90%) Very frequent (99-80%) HP:0002066
2 generalized hypotonia 58 31 frequent (33%) Frequent (79-30%) HP:0001290
3 limb ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002070
4 progressive cerebellar ataxia 58 31 frequent (33%) Frequent (79-30%) HP:0002073
5 cerebellar vermis atrophy 58 31 frequent (33%) Frequent (79-30%) HP:0006855
6 abnormality of the achilles tendon 58 31 frequent (33%) Frequent (79-30%) HP:0005109
7 dysarthria 58 31 occasional (7.5%) Occasional (29-5%) HP:0001260
8 tremor 58 31 occasional (7.5%) Occasional (29-5%) HP:0001337
9 cognitive impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0100543
10 myoclonus 58 31 occasional (7.5%) Occasional (29-5%) HP:0001336
11 rigidity 58 31 occasional (7.5%) Occasional (29-5%) HP:0002063
12 saccadic smooth pursuit 58 31 occasional (7.5%) Occasional (29-5%) HP:0001152
13 sensory impairment 58 31 occasional (7.5%) Occasional (29-5%) HP:0003474
14 gaze-evoked nystagmus 58 31 occasional (7.5%) Occasional (29-5%) HP:0000640
15 hyporeflexia of lower limbs 58 31 occasional (7.5%) Occasional (29-5%) HP:0002600
16 hyperreflexia 31 HP:0001347
17 nystagmus 31 HP:0000639
18 depressivity 31 HP:0000716
19 dysphagia 31 HP:0002015
20 memory impairment 31 HP:0002354
21 attention deficit hyperactivity disorder 31 HP:0007018
22 dysmetria 31 HP:0001310
23 mental deterioration 31 HP:0001268
24 cerebellar atrophy 31 HP:0001272
25 focal dystonia 31 HP:0004373
26 facial myokymia 31 HP:0000317
27 impaired vibration sensation at ankles 31 HP:0006938

Symptoms via clinical synopsis from OMIM:

56
Neurologic Central Nervous System:
hyperreflexia
dysarthria
dysphagia
gait ataxia
dysmetria
more
Head And Neck Face:
facial myokymia

Neurologic Peripheral Nervous System:
decreased vibration sense at ankles

Head And Neck Eyes:
nystagmus
eye movement abnormalities
saccadic intrusions

Neurologic Behavioral Psychiatric Manifestations:
memory loss
depression
cognitive decline
attention deficits

Clinical features from OMIM:

605361

UMLS symptoms related to Spinocerebellar Ataxia 14:


gait ataxia, memory loss

Drugs & Therapeutics for Spinocerebellar Ataxia 14

Search Clinical Trials , NIH Clinical Center for Spinocerebellar Ataxia 14

Genetic Tests for Spinocerebellar Ataxia 14

Genetic tests related to Spinocerebellar Ataxia 14:

# Genetic test Affiliating Genes
1 Spinocerebellar Ataxia 14 29 PRKCG

Anatomical Context for Spinocerebellar Ataxia 14

MalaCards organs/tissues related to Spinocerebellar Ataxia 14:

40
Eye, Cerebellum, Spinal Cord, Cortex, Liver, Skin

Publications for Spinocerebellar Ataxia 14

Articles related to Spinocerebellar Ataxia 14:

(show top 50) (show all 100)
# Title Authors PMID Year
1
Protein kinase C gamma, a protein causative for dominant ataxia, negatively regulates nuclear import of recessive-ataxia-related aprataxin. 54 61 24 56 6
19561170 2009
2
A Japanese case of SCA14 with the Gly128Asp mutation. 54 61 24 56 6
17024314 2006
3
Gly118Asp is a SCA14 founder mutation in the Dutch ataxia population. 54 61 24 56 6
15841389 2005
4
Mutation in the catalytic domain of protein kinase C gamma and extension of the phenotype associated with spinocerebellar ataxia type 14. 54 61 24 56 6
15313841 2004
5
Spinocerebellar ataxia type 14 caused by a mutation in protein kinase C gamma. 54 61 24 56 6
14676051 2003
6
Identification of a novel SCA14 mutation in a Dutch autosomal dominant cerebellar ataxia family. 61 24 56 6
14694043 2003
7
A new dominant spinocerebellar ataxia linked to chromosome 19q13.4-qter. 61 24 56 6
12164726 2002
8
Missense mutations in the regulatory domain of PKC gamma: a new mechanism for dominant nonepisodic cerebellar ataxia. 24 56 6
12644968 2003
9
New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14. 54 61 24 56
16193476 2005
10
The clinical and genetic spectrum of spinocerebellar ataxia 14. 54 61 24 6
15824357 2005
11
Protein kinase C gamma mutations in spinocerebellar ataxia 14 increase kinase activity and alter membrane targeting. 54 61 24 6
15618281 2005
12
A novel locus for dominant cerebellar ataxia (SCA14) maps to a 10.2-cM interval flanked by D19S206 and D19S605 on chromosome 19q13.4-qter. 61 24 56
10939565 2000
13
A novel H101Q mutation causes PKCgamma loss in spinocerebellar ataxia type 14. 54 61 6
16189624 2005
14
Exome sequencing in an SCA14 family demonstrates its utility in diagnosing heterogeneous diseases. 61 56
22675081 2012
15
Expansion of the phenotypic spectrum of SCA14 caused by the Gly128Asp mutation in PRKCG. 54 61 24
18986758 2009
16
PKC gamma mutations in spinocerebellar ataxia type 14 affect C1 domain accessibility and kinase activity leading to aberrant MAPK signaling. 54 61 24
18577575 2008
17
Protection from ataxia-linked apoptosis by gap junction inhibitors. 54 61 24
17822669 2007
18
Benign SCA14 phenotype in a German patient associated with a missense mutation in exon 3 of the PRKCG gene. 54 61 24
17708558 2007
19
Identification of a new family of spinocerebellar ataxia type 14 in the Japanese spinocerebellar ataxia population by the screening of PRKCG exon 4. 54 61 24
16763984 2006
20
Spinocerebellar Ataxia Type 14 61 6
20301573 2005
21
SCA14 in Norway, two families with autosomal dominant cerebellar ataxia and a novel mutation in the PRKCG gene. 61 24
21434874 2012
22
Mutant PKCγ in spinocerebellar ataxia type 14 disrupts synapse elimination and long-term depression in Purkinje cells in vivo. 61 24
21976518 2011
23
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. 6
21937992 2011
24
Elucidation of the molecular mechanism and exploration of novel therapeutics for spinocerebellar ataxia caused by mutant protein kinase Cγ. 61 24
21666345 2011
25
Mutant protein kinase C gamma that causes spinocerebellar ataxia type 14 (SCA14) is selectively degraded by autophagy. 61 24
20398063 2010
26
Myoclonus-dystonia and spinocerebellar ataxia type 14 presenting with similar phenotypes: trunk tremor, myoclonus, and dystonia. 61 24
19913450 2010
27
EFNS guidelines on the molecular diagnosis of ataxias and spastic paraplegias. 6
20050888 2010
28
Mutant gammaPKC found in spinocerebellar ataxia type 14 induces aggregate-independent maldevelopment of dendrites in primary cultured Purkinje cells. 61 24
19041943 2009
29
Loss of Purkinje cells in the PKCgamma H101Y transgenic mouse. 61 24
19056342 2009
30
Activation of mutant protein kinase Cgamma leads to aberrant sequestration and impairment of its cellular function. 61 24
18503760 2008
31
Enzymological analysis of mutant protein kinase Cgamma causing spinocerebellar ataxia type 14 and dysfunction in Ca2+ homeostasis. 61 24
18499672 2008
32
Aggregate formation of mutant protein kinase C gamma found in spinocerebellar ataxia type 14 impairs ubiquitin-proteasome system and induces endoplasmic reticulum stress. 61 24
18005063 2007
33
Another mutation in cysteine 131 in protein kinase C gamma as a cause of spinocerebellar ataxia type 14. 56
17562946 2007
34
Spectrum and prevalence of autosomal dominant spinocerebellar ataxia in Hokkaido, the northern island of Japan: a study of 113 Japanese families. 61 24
17805477 2007
35
Spinocerebellar ataxia 14: novel mutation in exon 2 of PRKCG in a German family. 61 24
17149711 2007
36
Mutation of the highly conserved cysteine residue 131 of the SCA14 associated PRKCG gene in a family with slow progressive cerebellar ataxia. 61 24
16649092 2006
37
Novel PRKCG/SCA14 mutation in a Dutch spinocerebellar ataxia family: expanding the phenotype. 61 24
16547918 2006
38
Mutant protein kinase Cgamma found in spinocerebellar ataxia type 14 is susceptible to aggregation and causes cell death. 61 24
15964845 2005
39
Hereditary Ataxia Overview 6
20301317 1998
40
A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. 24
18976727 2008
41
Protein kinase C gamma mutations in the C1B domain cause caspase-3-linked apoptosis in lens epithelial cells through gap junctions. 24
17493614 2007
42
PRKCG mutation (SCA-14) causing a Ramsay Hunt phenotype. 24
17343273 2007
43
R659S mutation of gammaPKC is susceptible to cell death: implication of this mutation/polymorphism in the pathogenesis of retinitis pigmentosa. 54 61
16828200 2006
44
The different facets of protein kinases C: old and new players in neuronal signal transduction pathways. 24
16996748 2006
45
Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene. 24
16291902 2005
46
Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families. 54 61
15148151 2004
47
Peripheral nerve involvement in spinocerebellar ataxias. 24
14967775 2004
48
Altered dendritic development of cerebellar Purkinje cells in slice cultures from protein kinase Cgamma-deficient mice. 24
11934475 2002
49
The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. 24
11586300 2001
50
A human homolog of yeast pre-mRNA splicing gene, PRP31, underlies autosomal dominant retinitis pigmentosa on chromosome 19q13.4 (RP11). 24
11545739 2001

Variations for Spinocerebellar Ataxia 14

ClinVar genetic disease variations for Spinocerebellar Ataxia 14:

6 (show all 41) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 PRKCG NM_002739.5(PRKCG):c.301C>T (p.His101Tyr)SNV Pathogenic 13244 rs121918511 19:54392907-54392907 19:53889653-53889653
2 PRKCG NM_002739.5(PRKCG):c.355T>C (p.Ser119Pro)SNV Pathogenic 13245 rs121918512 19:54392961-54392961 19:53889707-53889707
3 PRKCG NM_002739.5(PRKCG):c.383G>A (p.Gly128Asp)SNV Pathogenic 13246 rs121918513 19:54392989-54392989 19:53889735-53889735
4 PRKCG NM_002739.5(PRKCG):c.353G>A (p.Gly118Asp)SNV Pathogenic 13247 rs121918514 19:54392959-54392959 19:53889705-53889705
5 PRKCG NM_002739.5(PRKCG):c.380A>G (p.Gln127Arg)SNV Pathogenic 13248 rs121918515 19:54392986-54392986 19:53889732-53889732
6 PRKCG NM_002739.5(PRKCG):c.1927T>C (p.Phe643Leu)SNV Pathogenic 13249 rs121918516 19:54409982-54409982 19:53906728-53906728
7 PRKCG NM_002739.5(PRKCG):c.1081A>G (p.Ser361Gly)SNV Pathogenic 13250 rs121918517 19:54401354-54401354 19:53898100-53898100
8 PRKCG NM_002739.5(PRKCG):c.303C>G (p.His101Gln)SNV Pathogenic 13251 rs121918518 19:54392909-54392909 19:53889655-53889655
9 PRKCG NM_002739.5(PRKCG):c.2091_*98del (p.Met697_Ter698delinsXaa)deletion Pathogenic 13252 rs1555808841 19:54410146-54410247 19:53906892-53906993
10 PRKCG NM_002739.3(PRKCG):c.530_919deldeletion Pathogenic 29857
11 PRKCG NM_002739.5(PRKCG):c.1438G>T (p.Asp480Tyr)SNV Pathogenic 29858 rs387906679 19:54403866-54403866 19:53900612-53900612
12 PRKCG NM_002739.5(PRKCG):c.188G>T (p.Gly63Val)SNV Pathogenic 42140 rs386134159 19:54386434-54386434 19:53883180-53883180
13 PRKCG NM_002739.5(PRKCG):c.1078G>A (p.Gly360Ser)SNV Pathogenic 42129 rs386134171 19:54401351-54401351 19:53898097-53898097
14 PRKCG NM_002739.5(PRKCG):c.122G>C (p.Arg41Pro)SNV Pathogenic 42132 rs386134158 19:54385870-54385870 19:53882616-53882616
15 PRKCG NM_002739.5(PRKCG):c.229T>A (p.Cys77Ser)SNV Pathogenic 42148 rs386134160 19:54387441-54387441 19:53884187-53884187
16 PRKCG NM_002739.5(PRKCG):c.300_305del (p.His101_Lys102del)deletion Pathogenic 42157 rs386134161 19:54392902-54392907 19:53889648-53889653
17 PRKCG NM_002739.5(PRKCG):c.341G>A (p.Cys114Tyr)SNV Pathogenic 42161 rs386134162 19:54392947-54392947 19:53889693-53889693
18 PRKCG NM_002739.5(PRKCG):c.367G>A (p.Gly123Arg)SNV Pathogenic 42164 rs386134164 19:54392973-54392973 19:53889719-53889719
19 PRKCG NM_002739.5(PRKCG):c.368G>A (p.Gly123Glu)SNV Pathogenic 42165 rs386134165 19:54392974-54392974 19:53889720-53889720
20 PRKCG NM_002739.5(PRKCG):c.391T>C (p.Cys131Arg)SNV Pathogenic 42166 rs386134166 19:54392997-54392997 19:53889743-53889743
21 PRKCG NM_002739.5(PRKCG):c.413T>A (p.Val138Glu)SNV Pathogenic 42169 rs386134168 19:54393155-54393155 19:53889901-53889901
22 PRKCG NM_002739.5(PRKCG):c.449_450delinsTT (p.Cys150Phe)indel Pathogenic 42170 rs386134170 19:54393191-54393192 19:53889937-53889938
23 PRKCG NM_002739.5(PRKCG):c.417C>A (p.His139Gln)SNV Pathogenic 42171 rs386134169 19:54393159-54393159 19:53889905-53889905
24 PRKCG NM_002739.5(PRKCG):c.76A>G (p.Arg26Gly)SNV Pathogenic 42174 rs386134157 19:54385824-54385824 19:53882570-53882570
25 PRKCG NM_002739.5(PRKCG):c.197G>A (p.Cys66Tyr)SNV Likely pathogenic 436421 rs1555806333 19:54386443-54386443 19:53883189-53883189
26 PRKCG NM_002739.5(PRKCG):c.1883C>T (p.Pro628Leu)SNV Likely pathogenic 617542 rs1303074743 19:54409689-54409689 19:53906435-53906435
27 PRKCG NM_002739.5(PRKCG):c.367G>C (p.Gly123Arg)SNV Likely pathogenic 804156 19:54392973-54392973 19:53889719-53889719
28 PRKCG NM_002739.5(PRKCG):c.379C>A (p.Gln127Lys)SNV Likely pathogenic 804150 19:54392985-54392985 19:53889731-53889731
29 PRKCG NM_002739.5(PRKCG):c.154T>A (p.Cys52Ser)SNV Likely pathogenic 211956 rs797045900 19:54385902-54385902 19:53882648-53882648
30 PRKCG NM_002739.5(PRKCG):c.356C>T (p.Ser119Phe)SNV Likely pathogenic 42163 rs386134163 19:54392962-54392962 19:53889708-53889708
31 PRKCG NM_002739.5(PRKCG):c.2075T>G (p.Val692Gly)SNV Conflicting interpretations of pathogenicity 42145 rs78437096 19:54410130-54410130 19:53906876-53906876
32 PRKCG NM_002739.5(PRKCG):c.230G>A (p.Cys77Tyr)SNV Conflicting interpretations of pathogenicity 804155 19:54387442-54387442 19:53884188-53884188
33 PRKCG NM_002739.5(PRKCG):c.715C>T (p.Arg239Trp)SNV Uncertain significance 518305 rs1471641294 19:54395791-54395791 19:53892537-53892537
34 PRKCG NM_002739.5(PRKCG):c.1747G>A (p.Val583Met)SNV Uncertain significance 518306 rs143513754 19:54407979-54407979 19:53904725-53904725
35 PRKCG NM_002739.5(PRKCG):c.392G>A (p.Cys131Tyr)SNV Uncertain significance 42167 rs386134167 19:54392998-54392998 19:53889744-53889744
36 PRKCG NM_002739.5(PRKCG):c.1404C>G (p.Leu468=)SNV Benign/Likely benign 330065 rs35079513 19:54403703-54403703 19:53900449-53900449
37 PRKCG NM_002739.5(PRKCG):c.207C>T (p.Cys69=)SNV Benign/Likely benign 330057 rs307955 19:54387419-54387419 19:53884165-53884165
38 PRKCG NM_002739.5(PRKCG):c.285C>T (p.Asp95=)SNV Benign/Likely benign 330058 rs17854523 19:54387497-54387497 19:53884243-53884243
39 PRKCG NM_002739.5(PRKCG):c.567T>C (p.Asn189=)SNV Benign 130036 rs3745406 19:54394965-54394965 19:53891711-53891711
40 PRKCG NM_002739.5(PRKCG):c.72C>T (p.Ala24=)SNV Benign 130037 rs2547362 19:54385820-54385820 19:53882566-53882566
41 PRKCG NM_002739.5(PRKCG):c.686+14G>TSNV Benign 330063 rs3745405 19:54395098-54395098 19:53891844-53891844

UniProtKB/Swiss-Prot genetic disease variations for Spinocerebellar Ataxia 14:

73
# Symbol AA change Variation ID SNP ID
1 PRKCG p.His101Tyr VAR_017060 rs121918511
2 PRKCG p.Ser119Pro VAR_017061 rs121918512
3 PRKCG p.Gly128Asp VAR_017062 rs121918513
4 PRKCG p.Gly63Arg VAR_080740
5 PRKCG p.Gly63Val VAR_080741 rs386134159

Expression for Spinocerebellar Ataxia 14

Search GEO for disease gene expression data for Spinocerebellar Ataxia 14.

Pathways for Spinocerebellar Ataxia 14

Pathways related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.49 PRKCG PAWR CACNA1A
2
Show member pathways
11.12 PRKCG PDYN CACNA1A
3 10.93 PRKCG CACNA1A

GO Terms for Spinocerebellar Ataxia 14

Cellular components related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 plasma membrane GO:0005886 9.56 VSTM2L TRPC3 PRKCG PDYN PAWR MARCKS
2 synaptic membrane GO:0097060 8.62 TMEM240 PRKCG

Biological processes related to Spinocerebellar Ataxia 14 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 chemical synaptic transmission GO:0007268 9.33 PRKCG PDYN CACNA1A
2 actin filament bundle assembly GO:0051017 9.26 PAWR MARCKS
3 response to pain GO:0048265 8.96 PRKCG CACNA1A
4 negative regulation of neuron apoptotic process GO:0043524 8.8 VSTM2L PRKCG CACNA1A

Sources for Spinocerebellar Ataxia 14

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....