DDR2 M441I - 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:

DDR2 M441I

(DDR2 Met441Ile)


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 @ chr1:162740121: 1.6% (176/10758) in EVS
  • A @ chr1:161006744: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 1.6% (176/10758)

Publications
 

Genomes
 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
het A @ chr1:162740121

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het A @ chr1:162740121

 

huB1FD55 - CGI sample GS01173-DNA_B07 from PGP sample 61499538
het A @ chr1:162740121

 

GS12004 - var-GS12004-1100-36-ASM
het A @ chr1:161006745

 

GS20509 - var-GS20509-1100-36-ASM
het A @ chr1:161006745

 

Other external references
 

    dbSNP
  • rs34722354
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    Web search results (7 hits -- see all)
  • DDR2 Gene - GeneCards | DDR2 Protein | DDR2 Antibody
    EntrezGene summary for DDR2: Receptor tyrosine kinases (RTKs) play a key role in the ... DDR2 Gene in genomic location: bands according to Ensembl, locations ...
    www.genecards.org/cgi-bin/carddisp.pl?gene=DDR2
  • Discoidin domain-containing receptor 2 precursor - Homo ...
    Defects in DDR2 are the cause of spondyloepimetaphyseal dysplasia short limb ... "Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications. ...
    www.uniprot.org/uniprot/Q16832
  • Probability KinBase Name ENSEMBL ID
    DDR2. ENSG00000162733. rs34722354. 441. M. I. 1676. G. A. 3. ATG. ATA. Other. 199 ... DDR2. ENSG00000162733. rs34869543. 478. R. C. 1785. C. T. 1. CGC. TGC. Other. 200. 0.643. FLT4 ...
    bioinformatics.oxfordjournals.org/content/vol0/issue2007/...
  • UniProt/SWISS-PROT: DDR2_HUMAN
    CC -!- DISEASE: Defects in DDR2 are the cause of spondyloepimetaphyseal CC dysplasia ... H-InvDB; HIX0001265; -. DR HGNC; HGNC:2731; DDR2. DR HPA; CAB010432; -. DR MIM; 191311; ...
    www.genome.jp/dbget-bin/www_bget?sp:DDR2_HUMAN

Other in silico analyses
 

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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