MMAB M239K - 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.

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Curation:
Currentness:

MMAB M239K

(MMAB Met239Lys)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Benign, score 0.000
SIFT: Tolerated 1.00
GVGD: GV 94.49; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.44);
PolyPhen=benign(0);
Condel=deleterious(0.556)
Mutation Tasting Prediction: Polymorphism, P value: 0.999972; 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 @ chr12:109994870: 59.8% (6433/10758) in EVS
  • T @ chr12:108479252: 49.2% (63/128) in GET-Evidence
  • Frequency shown in summary reports: 59.8% (6433/10758)

Publications
 

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het T @ chr12:109994870

 

hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
hom T @ chr12:109994870

 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr12:109994870

 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr12:109994870

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr12:109994870

 

 

hu241DEA - CGI sample GS01175-DNA_D05 from PGP sample 1205491
het T @ chr12:109994870

 

hu2DBF2D - CGI sample GS01173-DNA_G02 from PGP sample 67180598
het T @ chr12:109994870

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr12:109994870

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr12:109994870

 

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr12:109994870

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr12:109994870

 

hu4339C0 - CGI sample GS01175-DNA_H01 from PGP sample 94797469
hom T @ chr12:109994870

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
hom T @ chr12:109994870

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
hom T @ chr12:109994870

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr12:109994870

 

hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
hom T @ chr12:109994870

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
hom T @ chr12:109994870

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
hom T @ chr12:109994870

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr12:109994870

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr12:109994870

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het T @ chr12:109994870

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr12:109994870

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
het T @ chr12:109994870

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr12:109994870

 

huD81F3D - CGI sample GS01173-DNA_D06 from PGP sample 69488604
hom T @ chr12:109994870

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
het T @ chr12:109994870

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
het T @ chr12:109994870

 

GS06994 - var-GS06994-1100-36-ASM
hom T @ chr12:108479253

 

GS07357 - var-GS07357-1100-36-ASM
het T @ chr12:108479253

 

GS10851 - var-GS10851-1100-36-ASM
het T @ chr12:108479253

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr12:108479253

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr12:108479253

 

GS18502 - var-GS18502-1100-36-ASM
hom T @ chr12:108479253

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr12:108479253

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr12:108479253

 

GS18508 - var-GS18508-1100-36-ASM
hom T @ chr12:108479253

 

GS18517 - var-GS18517-1100-36-ASM
het T @ chr12:108479253

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr12:108479253

 

GS18558 - var-GS18558-1100-36-ASM
hom T @ chr12:108479253

 

GS18942 - var-GS18942-1100-36-ASM
hom T @ chr12:108479253

 

GS19017 - var-GS19017-1100-36-ASM
het T @ chr12:108479253

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr12:108479253

 

GS19026 - var-GS19026-1100-36-ASM
het T @ chr12:108479253

 

GS19129 - var-GS19129-1100-36-ASM
het T @ chr12:108479253

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr12:108479253

 

GS19239 - var-GS19239-1100-36-ASM
hom T @ chr12:108479253

 

GS19240 - var-GS19240-1100-36-ASM
het T @ chr12:108479253

 

GS19648 - var-GS19648-1100-36-ASM
het T @ chr12:108479253

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr12:108479253

 

GS19669 - var-GS19669-1100-36-ASM
het T @ chr12:108479253

 

GS19670 - var-GS19670-1100-36-ASM
het T @ chr12:108479253

 

GS19700 - var-GS19700-1100-36-ASM
hom T @ chr12:108479253

 

GS19701 - var-GS19701-1100-36-ASM
hom T @ chr12:108479253

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr12:108479253

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr12:108479253

 

GS19735 - var-GS19735-1100-36-ASM
het T @ chr12:108479253

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr12:108479253

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr12:108479253

 

GS20509 - var-GS20509-1100-36-ASM
hom T @ chr12:108479253

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr12:108479253

 

Other external references
 

    dbSNP
  • rs9593
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0 (benign)
    Web search results (12 hits -- see all)
  • Identification of the gene responsible for the cblB ...
    ... amino acid substitutions (R19Q and M239K) were found in several patient ... In total, the human MMAB gene was found to encompass 18.87 kb and is oriented towards the telomere. ...
    hmg.oxfordjournals.org/cgi/content/full/11/26/3361
  • Methylmalonic Acidemia -- GeneReviews -- NCBI Bookshelf
    MMAA, MMAB, and MUT are the three genes known to be associated with isolated ... The M239K protein has kinetic parameters that are physiologically appropriate ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mma
  • Identification of the gene responsible for the cblB ...
    Department of Biochemistry and Molecular Biology, University of Calgary, Canada. ... amino acid substitutions (R19Q and M239K) were found in several patient ...
    www.ncbi.nlm.nih.gov/pubmed/12471062
  • Identification of the gene responsible for the cblB ...
    ... amino acid substitutions (R19Q and M239K) were found in several patient cell lines but were found to be ... at KCTD10, MVK, and MMAB genes interact with dietary carbohydrates ...
    hmg.oxfordjournals.org/cgi/content/short/11/26/3361
  • Salmonella
    Control of the Salmonella ugd gene by three two-component regulatory systems; ... Here, we establish that mutation of the tolB gene promotes ugd transcription ...
    www.bionewsonline.com/x/2/salmonella_d.htm
  • 華人甲基丙二酸血症 MMAA 和 MMAB 基因之 分子遺傳學研究
    In this study, both the MMAA and MMAB genes were scanned to identify. the genetic mutation ... ( R19Q ) 和第 239 個胺基酸由 methionine 變成 lysine ( M239K ), 但這兩個核苷酸的變異在白種人與本 ...
    www.tfrd.org.tw/upload/manual/aca/dissertation7-1.pdf
  • Identification of the gene responsible for the cblB ...
    The methylmalonic acidurias are metabolic disorders resulting from deficient methylmalonyl-CoA mutase activity, a vitamin B(12)-dependent enzyme.
    www.medscape.com/medline/abstract/12471062?prt=true
  • BibText Export for 26
    Gravel", title = "Identification of the gene responsible for the cblB ... amino acid substitutions (R19Q and M239K) were found in several patient cell ...
    ingentaconnect.com/content/oup/hmg/2002/00000011/...
  • PubMed: 12471062
    Title: Identification of the gene responsible for the cblB complementation group ... amino acid substitutions (R19Q and M239K) were found in several patient ...
    www.genome.jp/dbget-bin/www_bget?pubmed+12471062

Other in silico analyses
 

  • NBLOSUM100 score = 4
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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