FREM2 E1972K - 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.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

FREM2 E1972K

(FREM2 Glu1972Lys)


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
 

    PolyPhen-2
  • Score: 0.998 (probably damaging)
    Web search results (3 hits -- see all)
  • The genetics of Fraser syndrome and the blebs mouse mutants ...
    ... a mutation in human FREM2 (E1972K), which substitutes a strongly ... Fras1 and Frem2 are transmembrane proteins, whereas Frem1 contains a lectin type C domain at its C-terminus. ...
    hmg.oxfordjournals.org/cgi/content/full/14/suppl_2/R269
  • Type II- 95%
    ... HSD11B2 P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 ... CK2 (0.708) PA-2 FREM2 Q5SZK8 E1972K 1976 VAR_023201 PIKK (0.557) Fraser ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • OMIM: 608945
    Frem1-knockout mice had reduced expression of Fras1 and Frem2 at the basement membrane. ... the FREM2 gene, resulting in a glu1972-to-lys (E1972K) substitution ...
    www.genome.jp/dbget-bin/www_bget?omim+608945

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in