MKKS R517C - GET-Evidence

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

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Curation:
Currentness:

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MKKS R517C

(MKKS Arg517Cys)


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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

  • A @ chr20:10386059: 13.4% (1438/10758) in EVS
  • A @ chr20:10334058: 17.2% (22/128) in GET-Evidence
  • Frequency shown in summary reports: 13.4% (1438/10758)

Publications
 

Genomes
 

Added in this revision:

hu43860C - CGI sample GS00253-DNA_A01_200_37
het A @ chr20:10386059

 

NA18555

 

NA19129

 

NA19240

 

snp-1

 

Other external references
 

    dbSNP
  • rs1547
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the MKKS gene
    Bardet-Biedl Syndrome
    McKusick-Kaufman Syndrome
    MKKS-Related Bardet-Biedl Syndrome
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MKKS
    PolyPhen-2
  • Score: 0.001 (benign)
    Web search results (14 hits -- see all)
  • McKusick-Kaufman Syndrome -- GeneReviews -- NCBI Bookshelf
    Note: Sequencing of the MKKS gene in individuals with BBS and phenotypic ... five variants in MKKS (p.P39P, p.I178I, p.A242S, p.R517C, p.G532V) were ...
    www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=mkks
  • Table 3. Polymorphisms and Non-Coding Sequence Alterations in ...
    Table 3. Polymorphisms and Non-Coding Sequence Alterations in MKKS ... p.R517C. 6. 9.7% Andersen et al 2005. 1. The status of this missense alteration is uncertain ...
    ncbi.nlm.nih.gov/bookshelf/...&blobname=table3-mkks.pdf
  • Evaluation of Complex Inheritance Involving the Most Common ...
    MKKS. A8T. MKKS. R517C. MKKS. G532V. 1994; Carmi et al. 1995). Analysis of the inheritance ... sites in the BBS2, BBS4, and MKKS. genes in 43 unrelated patients with ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Screening of the Eight BBS Genes in Tunisian Families: No ...
    ... BBS6 incorporating the genetic point mutations R517C and G532V and to refine the ... knockout mouse models generated for the BBS1, BBS2, BBS4, and MKKS genes,23 ...
    www.iovs.org/cgi/content/full/47/8/3487
  • Antenatal Presentation of Bardet-Biedl Syndrome May Mimic ...
    R517C. BBS7: 133 CrG. IVS3 45 CrT. IVS9 32 ArG. IVS9 32–34del4. IVS14 24 CrA. IVS17 16 GrA ... tations in MKKS cause obesity, retinal dystrophy and renal ...
    sciencedirect.com/science?_ob=MImg&...&ie=/sdarticle.pdf
  • Screening of the Eight BBS Genes in Tunisian Families: No ...
    R517C and G532V and to refine the structure by self-consistent ensem- ble optimization, which applies the ... 13. Katsanis N, Beales PL, Woods MO, et al. Mutations in MKKS cause ...
    www.iovs.org/cgi/reprint/47/8/3487.pdf
  • Table 1 Text
    ... 88 rs1547 MKKS 8195 20 10334059 NM_018848 NP_061336 A/G R517C plus 3238465 738 ... 89 rs1547 MKKS 8195 20 10334059 NM_018848 NP_061336 A/G R517C plus 8435145 1303 ...
    icr.ac.uk/research/research_sections/.../2841.txt
  • ESHG Posters 1
    1Department of Medical Genetics, Medical University Sofia, Sofia, BULGARIA, ... Cadherins play a critical role in morphogenesis and maintenance of neuronal ...
    www.medacad.org/eshg/abstracts/posters1.htm

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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