ALDH5A1 H180Y - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

ALDH5A1 H180Y

(ALDH5A1 His180Tyr)


Short summary

 

Variant evidence
Computational 3

PolyPhen2: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 132.28; GD 0.00; Class C0
Variant Effect Predictor (Ensembl):
SIFT=tolerated(0.1);
PolyPhen=benign(0);
Condel=deleterious(0.900)
Mutation Tasting Prediction: Polymorphism, P value: 0.999999; no protein features affected.

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

  • T @ chr6:24503590: 37.4% (4020/10758) in EVS
  • T @ chr6:24611568: 30.5% (39/128) in GET-Evidence
  • Frequency shown in summary reports: 37.4% (4020/10758)

Publications
 

Genomes
 

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
hom T @ chr6:24503590

 

 

 

 

 

 

 

 

 

 

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het T @ chr6:24503590

 

 

 

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr6:24503590

 

 

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr6:24503590

 

 

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr6:24503590

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr6:24611569

 

GS06994 - var-GS06994-1100-36-ASM
het T @ chr6:24611569

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr6:24611569

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr6:24611569

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr6:24611569

 

GS18504 - var-GS18504-1100-36-ASM
hom T @ chr6:24611569

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr6:24611569

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr6:24611569

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr6:24611569

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr6:24611569

 

GS19025 - var-GS19025-1100-36-ASM
hom T @ chr6:24611569

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr6:24611569

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr6:24611569

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr6:24611569

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr6:24611569

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr6:24611569

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr6:24611569

 

GS19700 - var-GS19700-1100-36-ASM
het T @ chr6:24611569

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr6:24611569

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr6:24611569

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr6:24611569

 

Other external references
 

    dbSNP
  • rs2760118
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (12 hits -- see all)
  • Genetics | BRAINnet - Brain Research And Integrative ...
    MolecularNeuro™ Collection via cheek swab or saliva method (and in some cases bloods) of DNA for extraction of SNPs and other variants of interest which
    www.brainnet.net/the-brainnet-advantage/genetics
  • WikiGenes - ALDH5A1 - aldehyde dehydrogenase 5 family, member A1
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/7915.html
  • Candidate gene analysis of the succinic semialdehyde ...
    Mutation screening of the ALDH5A1 coding sequence of 35IGE/PPR patients and four healthy control subjects ... three resulted in an exchange of amino acids (H180Y, P182L, A237S) ...
    www.ncbi.nlm.nih.gov/pubmed/16406321
  • Publications
    ... of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy ... three resulted in an exchange of amino acids (H180Y, P182L, A237S) ...
    mdc-berlin.de/en/research/research_teams/...?eprintid=8153
  • EC 1.2.1.24 - succinate-semialdehyde dehydrogenase
    Information on EC 1.2.1.24 - succinate-semialdehyde dehydrogenase ... of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in patients with idiopathic generalized epilepsy ...
    www.brenda-enzymes.info/php/result_flat.php4?ecno=1.2.1.24
  • Supplementary Table xls.1
    ... kÇkükékâkäkàkåkçkêkëkèkïkîkìkÄkÅkÉkækÆkôkökòkûkùkÿkÖkÜk¢k£k¥k₧kƒkákíkókúkñkÑkªkºk¿kk¬k½k ... 0_-;_-"ú"* "-"_-;_-@0_-;\-* #,##0_-;_-* "-"_-;8_-"ú"* #,##0.00_-;\-"ú" ...
    icr.ac.uk/research/research_sections/.../2843.xls
  • PLoS ONE: The X-Ray Crystal Structure of Escherichia coli ...
    PLoS ONE: an inclusive, peer-reviewed, open-access resource from the PUBLIC LIBRARY OF ... with 103–454del and 1460T>A of the ALDH5A1 gene. Human Heredity 53: 42–44. Find this ...
    plosone.org/article/info:doi/10.1371/journal.pone.0009280
  • Lorenz, S (Susanne)
    Candidate gene analysis of the succinic semialdehyde dehydrogenase gene (ALDH5A1) in ... of which three resulted in an exchange of amino acids (H180Y, P182L, A237S) ...
    lib.bioinfo.pl/auid:3978325
  • WikiGenes - PPR - photoparoxysmal response
    The world's first wiki where authorship really matters. Due credit and reputation for authors. Imagine a global collaborative knowledge base for original thoughts.
    www.wikigenes.org/e/gene/e/619470.html
  • How to... | BRAINnet - Brain Research And Integrative ...
    .. Acknowledge the BRAINnet Database? Refer to the Data? Acknowledging the BRAINnet Database BRAINnet Acknowledgments to use
    www.brainnet.net/how-to

Other in silico analyses
 

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

Edit history
 

Gene search

"GENE" or "GENE A123C":

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