COMP C328R - GET-Evidence

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

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Curation:
Currentness:

COMP C328R

(COMP Cys328Arg)


Short summary

 

Variant evidence
Computational -
Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

(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

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the COMP gene
    Multiple Epiphyseal Dysplasia, Dominant
    COMP-Related Multiple Epiphyseal Dysplasia
    Pseudoachondroplasia
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/COMP
    Web search results (27 hits -- see all)
  • OMIM: 600310
    GENE FUNCTION Thur et al. (2001) expressed recombinant wildtype COMP that showed structural and functional properties identical to COMP isolated from cartilage. ...
    www.genome.jp/dbget-bin/www_bget?omim+600310
  • microsoft.public.vc.mfc: 24-bit memory DC
    I am using GDI functions to draw into a 24-bit image obtained from a camera ... before ... (comp.arch.embedded) Re: Transitioning to Nikon D50 from Nikon F4 and accessoires ...
    tech-archive.net/Archive/VC/.../2004-11/0899.html
  • LPC2000 Discussion Group/Forum on EmbeddedRelated.com
    Discussion groups and forums for DSP engineers ... hi,has anyone worked on c328r.i m facing problem in synchronizing with camera.i hav connected camera to uart1 ...
    www.embeddedrelated.com/groups/lpc2000/kw/UART1.php
  • Die Auswirkungen von Chondrodysplasie-assoziierten Mutationen ...
    COMP in which Asp361 was substituted by Tyr (D361Y) were both secreted into the ... exprimierte rekombinant Wildtyp-COMP, das strukturell und funktionell ...
    uni-koeln.de/med-fak/biochemie/.../diss/jochen_thur.pdf
  • Bombusmod Avalon
    Publish your documents quickly and easily, share them with others, and manage or ... comp comp-4002 comp-epi comp1110 comp2spaceinvaders comp3331-group3 ...
    www.scribd.com/doc/7657196/Bombusmod-Avalon
  • IC、电子元件、半导体、元器件搜索 -WWW.CCTVIC.COM (1664)
    IC频道网电子元器件数据库包含了全球成百上千的供应商的数十亿的电子元器件!拥有多种语言选择的网站为集成电路、半导体和其他各种有源、无源、机电元器件的买家还提供了元器件搜索的现场演示
    www.cctvic.com/kugou/1664.htm
  • Presentation: Expression of Cartilage Oligomeric Matrix ...
    METHODS: Wild type and three missense COMP constructs (C328R, D361Y, G440E), prepared by site directed ... compared to cells that expressed wild type COMP or other COMP mutants. ...
    acr.confex.com/acr/2006/webprogram/Paper4146.html
  • interfacing of lpc2148 with c328r | LPC2000 | EmbeddedRelated.com
    Comp.Arch.Embedded. Books. Internet Resources. Sign in. username: password: Not a member? ... hi,has anyone worked on c328r.i m facing problem in synchronizing with ...
    www.embeddedrelated.com/groups/lpc2000/show/37995.php
  • Re: Digital Camera USB problems
    The camera has several usb modes, I have it set on Normal. ... One of them should export ... (comp.arch.embedded) Re: Partition check considered as error is breaking mounting in ...
    newsgroups.derkeiler.com/Archive/Comp/.../msg00164.html
  • Memory Card Question
    to transfer photos from camera using memory ... USB wire only? ... For the camera, the C328R from Co-media was selected. (comp.arch.embedded) Re: Transitioning to Nikon D50 ...
    newsgroups.derkeiler.com/Archive/.../2007-09/msg00127.html

Other in silico analyses
 

  • NBLOSUM100 score = 8
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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