PINK1 N521T - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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Curation:
Currentness:

PINK1 N521T

(PINK1 Asn521Thr)


Short summary

 

Variant evidence
Computational 3

Variant Effect Predictor (Ensembl ):
SIFT=deleterious(0.03);
PolyPhen=benign(0);
Condel=deleterious(0.969)
Mutation Tasting prediction: Polymorphism p value: 0.893998; protein features (might be) affected (TOPO_DOMAIN cytoplasmic (potential) gets lost)
GVGD: GV 0.00; GD 64.77; Class C55
Multi-alignment of Q9BXM7.1 serine/threonine-protein kinase PINK1, mitochondrial precursor [Homo sapiens] with: XP_001164912.2 [Pan troglodytes] XP_002811395.1 [Pongo abelii] XP_001096957.1 [Macaca mulatta] XP_003127724.1 [Sus scrofa] AAI69047.1 [Rattus norvegicus] NP_001093171.1 [Bos taurus] NP_081156.2 [Mus musculus] BAB55651.1 [Mus musculus]

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

unknown

Summary of published research, and additional commentary

 

Allele frequency

  • C @ chr1:20977000: 26.9% (2897/10758) in EVS
  • C @ chr1:20849586: 25.0% (32/128) in GET-Evidence
  • Frequency shown in summary reports: 26.9% (2897/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het C @ chr1:20977000

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het C @ chr1:20977000

 

 

 

 

 

 

 

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het C @ chr1:20977000

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:20977000

 

 

 

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het C @ chr1:20977000

 

 

huBEDA0B - CGI sample GS00253-DNA_C01_200_37
het C @ chr1:20977000

 

 

 

GS06985 - var-GS06985-1100-36-ASM
hom C @ chr1:20849587

 

GS10851 - var-GS10851-1100-36-ASM
het C @ chr1:20849587

 

GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:20849587

 

GS18537 - var-GS18537-1100-36-ASM
hom C @ chr1:20849587

 

GS18555 - var-GS18555-1100-36-ASM
het C @ chr1:20849587

 

GS18956 - var-GS18956-1100-36-ASM
het C @ chr1:20849587

 

GS19025 - var-GS19025-1100-36-ASM
het C @ chr1:20849587

 

GS19026 - var-GS19026-1100-36-ASM
hom C @ chr1:20849587

 

GS19129 - var-GS19129-1100-36-ASM
het C @ chr1:20849587

 

GS19239 - var-GS19239-1100-36-ASM
het C @ chr1:20849587

 

GS19700 - var-GS19700-1100-36-ASM
het C @ chr1:20849587

 

GS19701 - var-GS19701-1100-36-ASM
het C @ chr1:20849587

 

GS19834 - var-GS19834-1100-36-ASM
hom C @ chr1:20849587

 

GS20509 - var-GS20509-1100-36-ASM
het C @ chr1:20849587

 

GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:20849587

 

Other external references
 

    dbSNP
  • rs1043424
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (17 hits -- see all)
  • BioMed Central | Full text | Significance of the parkin and ...
    PINK1 was identified as the gene associated to the PARK6 candidate region of PD, ... in PINK1 co-segregate with disease, and a carrier of A340T and N521T is married ...
    www.biomedcentral.com/1471-2377/8/47
  • Significance of the parkin and PINK1 gene in Jordanian ...
    Significance of the parkin and PINK1 gene in Jordanian families with incidences of young ... PINK1 co-segregate with disease, and a carrier of A340T and N521T is ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC2635385/?tool=pubmed
  • Mutational analysis of the PINK1 gene in early-onset ...
    Mutational analysis of the PINK1 gene in early-onset parkinsonism in ... We screened for parkin and PINK1 mutations in a panel of 177 autosomal recessive ...
    brain.oxfordjournals.org/cgi/content/full/129/3/686
  • Exclusion of PINK1 as candidate gene for the late-onset form ...
    Exclusion of PINK1 as candidate gene for the late-onset form of ... All 8 coding exons of the PINK1 gene were screened for sequence variation using ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1325256/?tool=pubmed
  • BMC Neurology
    PINK1 gene we identified two novel putative pathogenic substitutions, P416R and S419P, located in a conserved ... The N521T substitution identified in this region is the. most ...
    www.biomedcentral.com/content/pdf/1471-2377-8-47.pdf
  • Journal of Negative Results in BioMedicine | Full text ...
    Exclusion of PINK1 as candidate gene for the late-onset form of ... Sequence variation in the PINK1 gene appears to play a marginal quantitative ...
    www.jnrbm.com/content/4/1/10
  • Mutational analysis of the PINK1 gene in early-onset ...
    In 7 unrelated families, we identiļ¬ed 10 pathogenic PINK1 mutations ... results suggest that PINK1 is the second most frequent causative gene in early ...
    brain.oxfordjournals.org/cgi/reprint/129/3/686.pdf
  • Parkinson Disease Knowledgebase
    These findings suggest that PINK1 heterozygous rare variants play only a minor ... These findings suggest that PINK1 heterozygous rare variants play only a minor ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=PINK1&...
  • Parkinson Disease Knowledgebase
    PINK1. Variant (mutation/polymorphism) information mined from UniProt : ... S477T (Polymorphism) N521T (Polymorphism) [ VAR_018996 ] N521T (Polymorphism) suisheng ...
    datam.i2r.a-star.edu.sg/mdpd/detail.php?symbol=PINK1&sec=2

Other in silico analyses
 

  • NBLOSUM100 score = 1
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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