GJC2 P90S - 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:

GJC2 P90S

(GJC2 Pro90Ser)


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: 0.997 (probably damaging)
    Web search results (5 hits -- see all)
  • Type II- 98%
    ... PROT ID Variant site Phosphorylation site SWISS-PROT variant ID Removed kinase ... Polymorphism (dbSNP:rs17857275) 15489334 GJC2 Q5T442 P90S 89 VAR_023754 MAPK (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_98.txt
  • Type II- 95%
    ... P80365 R186C 184 VAR_015637 PKC (0.550) AME 7593417 9661590 PKLR P30613 D390N ... cancer sample, somatic mutation 16959974 GJC2 Q5T442 P90S 89 VAR_023754 CDK (0. ...
    nih.go.kr/phosphovariant/html/family_whole/TypeII-_95.txt
  • OMIM: 608803
    0005 LEUKODYSTROPHY, HYPOMYELINATING, 2 GJC2, TYR272ASP See 608803.0004 and Uhlenberg et ... 1-bp insertion (695insG) in the GJC2 gene, resulting in a frameshift and premature ...
    www.genome.jp/dbget-bin/www_bget?omim+608803

Other in silico analyses
 

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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