AIPL1 D90H - GET-Evidence

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Curation:
Currentness:

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AIPL1 D90H

(AIPL1 Asp90His)


You are viewing an old version of this page that was saved on March 29, 2011 at 8:55pm by Genome Importing Robot.

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 @ chr17:6337247: 16.5% (1780/10758) in EVS
  • G @ chr17:6277970: 21.9% (28/128) in GET-Evidence
  • Frequency shown in summary reports: 16.5% (1780/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
hom G @ chr17:6337247

 

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het G @ chr17:6337247

 

GS06985 - var-GS06985-1100-36-ASM
het G @ chr17:6277971

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr17:6277971

 

GS10851 - var-GS10851-1100-36-ASM
het G @ chr17:6277971

 

GS18508 - var-GS18508-1100-36-ASM
het G @ chr17:6277971

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr17:6277971

 

GS18558 - var-GS18558-1100-36-ASM
het G @ chr17:6277971

 

GS18940 - var-GS18940-1100-36-ASM
hom G @ chr17:6277971

 

GS18947 - var-GS18947-1100-36-ASM
het G @ chr17:6277971

 

GS18956 - var-GS18956-1100-36-ASM
hom G @ chr17:6277971

 

GS19020 - var-GS19020-1100-36-ASM
het G @ chr17:6277971

 

GS19129 - var-GS19129-1100-36-ASM
het G @ chr17:6277971

 

GS19239 - var-GS19239-1100-36-ASM
het G @ chr17:6277971

 

Added in this revision:

GS19648 - var-GS19648-1100-36-ASM
het G @ chr17:6277971

 

NA07022

 

NA18956

 

NA19129

 

snp-1

 

snp-2

 

snp-3

 

snp-5

 

snp-6

 

Other external references
 

    dbSNP
  • rs12449580
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the AIPL1 gene
    Leber Congenital Amaurosis
    AIPL1-Related Leber Congenital Amaurosis
    AIPL1-Related Retinitis Pigmentosa
    Retinitis Pigmentosa, Autosomal Dominant
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/AIPL1
    PolyPhen-2
  • Score: 0.029 (benign)
    Web search results (12 hits -- see all)
  • An unusual retinal vascular morphology in connection with a ...
    To confirm the D90H (286GC) mutation, PCR products of the patient, his relatives, ... for D90H and a second AIPL1 mutation in a screen of 60 LCA/early onset retinal ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1771788
  • van der Spuy, Mol Vis 2005; 11:542-553.
    The AIPL1 protein is expressed in the pineal gland and retinal photoreceptors. ... For AIPL1 to be the causative gene in this patient, the D90H allele must be ...
    www.molvis.org/molvis/v11/a64
  • v11a64-van-der-spuy.hsm
    The AIPL1 protein is expressed in the pineal gland and retinal photoreceptors. ... For \i{AIPL1} to be the causative gene in this patient, the D90H allele must be ...
    www.molvis.org/molvis/v11/v11a64-van-der-spuy.hsm
  • Genotyping Microarray (Disease Chip) for Leber Congenital ...
    ... L782H in GUCY2D, D90H in AIPL1), to facilitate haplotype assignments. ... have been found in European populations, such as the W278X allele in AIPL1 and the C948Y allele in CRB1. ...
    www.iovs.org/cgi/content/full/46/9/3052
  • Genotyping Microarray (Disease Chip) for Leber Congenital ...
    D90H in AIPL1), to facilitate haplotype assignments. The resultant LCA microarray ... 33. Ramamurthy V, Roberts M, van den Akker F, et al. AIPL1, a protein ...
    www.iovs.org/cgi/reprint/46/9/3052.pdf
  • AceView: Gene:AIPL1, a comprehensive annotation of human ...
    AceView offers a comprehensive annotation of human, mouse and nematode genes reconstructed by co-alignment and clustering of all publicly available mRNAs and ESTs on ...
    ncbi.nlm.nih.gov/IEB/Research/Acembly/...&a=clones&l=AIPL1
  • EPOS - European Paediatric Ophthalmological Society
    NUB1 has been reported as an interaction protein of AIPL1 recently. ... Conclusion: The D90H mutation of AIPL1 has been reported previously as a benign variant. ...
    www.epos-focus.org/meeting/2002/showabstract.php?id=47

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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