NR2E3 E140G - GET-Evidence

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

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Curation:
Currentness:

NR2E3 E140G

(NR2E3 Glu140Gly)


Short summary

 

Variant evidence
Computational -
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

  • G @ chr15:72104364: 1.3% (134/10074) in EVS
  • G @ chr15:69891417: 4.7% (6/128) in GET-Evidence
  • Frequency shown in summary reports: 1.3% (134/10074)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het G @ chr15:72104364

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het G @ chr15:72104364

 

GS18537 - var-GS18537-1100-36-ASM
het G @ chr15:69891418

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr15:69891418

 

GS18940 - var-GS18940-1100-36-ASM
het G @ chr15:69891418

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr15:69891418

 

GS19648 - var-GS19648-1100-36-ASM
het G @ chr15:69891418

 

GS19670 - var-GS19670-1100-36-ASM
het G @ chr15:69891418

 

Other external references
 

    dbSNP
  • rs1805020
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the NR2E3 gene
    Retinitis Pigmentosa, Autosomal Recessive
    Enhanced S-Cone Syndrome
    NR2E3-Related Retinitis Pigmentosa
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/NR2E3
    Web search results (26 hits -- see all)
  • Molecular Vision: A comprehensive analysis of sequence ...
    Mutations in NR2E3 are associated with enhanced S-cone syndrome and related ... of reported sequence variants and disease-causing mutations in NR2E3. ...
    www.molvis.org/molvis/v15/a234
  • NucleaRDB Point mutations extracted from the literature
    ... 2000 E140G HINGE NR2E3_HUMAN (Q9Y5X4) NR2E3,PNR, RNR Haider NB et al. ... (Q9Y5X4) NR2E3,PNR, RNR Haider NB et al.,2000 W234S LBD HELIX 3 349 NR2E3_HUMAN (Q9Y5X4) NR2E3,PNR, RNR ...
    www.cmpharm.ucsf.edu/Receptors/NR/mutation/allmut_ref.html
  • A Genome-wide Scan Maps a Novel Juvenile-Onset Primary Open ...
    No mutations were found in the coding exons and splicing junctions of NR2E3, SMAD6, and CLN6. ... Only four polymorphisms in NR2E3 (–1052GA, –169CG, E140G, and M163T) and three ...
    www.iovs.org/cgi/content/full/47/12/5315
  • NucleaRDB Extraction of mutation data from the literature
    Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a ... A intron 2 none 0 0.01 C T 111 A111A 0 0.01 G A 140 E140G 1 0.21 T C ...
    cmpharm.ucsf.edu/Receptors/NR/.../MUN0000162_Xtext.html
  • Type II- 97%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... 16959974 OR6C74 A6NCV1 R2G 5 VAR_036981 RSK (0.850) Polymorphism (dbSNP: ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_97.txt
  • Type II- 95%
    ... SWISS-PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • A comprehensive analysis of sequence variants and putative ...
    Mutations in NR2E3 are associated with enhanced S-cone syndrome. and related retinal ... E140G, p.M163T, and. Figure 4. Interaction of WT and mutant. NR2E3 ...
    www.molvis.org/molvis/v15/a234/mv-v15-a234-kanda.pdf
  • NucleaRDB Extraction of mutation data from the literature
    Mutation of a nuclear receptor gene, NR2E3, causes enhanced S cone syndrome, a ... A intron 2 none 0 0.01 C T 111 A111A 0 0.01 G A 140 E140G 1 0.21 T C ...
    receptors.org/NR/mutation/PMs_Xtext/MUN0000153_Xtext.html

Other in silico analyses
 

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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