MKKS R517C - GET-Evidence

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

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(MKKS Arg517Cys)

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 -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
het A @ chr20:10386059



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


GS18502 - var-GS18502-1100-36-ASM
het A @ chr20:10334059


GS18505 - var-GS18505-1100-36-ASM
hom A @ chr20:10334059


GS18526 - var-GS18526-1100-36-ASM
het A @ chr20:10334059


GS18555 - var-GS18555-1100-36-ASM
het A @ chr20:10334059


GS18558 - var-GS18558-1100-36-ASM
het A @ chr20:10334059


GS18947 - var-GS18947-1100-36-ASM
het A @ chr20:10334059


GS19025 - var-GS19025-1100-36-ASM
het A @ chr20:10334059


Added in this revision:

GS19129 - var-GS19129-1100-36-ASM
het A @ chr20:10334059
















Other external references

  • rs1547
  • GeneTests records for the MKKS gene
    Bardet-Biedl Syndrome
    McKusick-Kaufman Syndrome
    MKKS-Related Bardet-Biedl Syndrome
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • ESHG Posters 1
    1Department of Medical Genetics, Medical University Sofia, Sofia, BULGARIA, ... Cadherins play a critical role in morphogenesis and maintenance of neuronal ...

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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