SP110 E207K - 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:

SP110 E207K

(SP110 Glu207Lys)


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

  • T @ chr2:231077110: 8.9% (953/10758) in EVS
  • T @ chr2:230785353: 9.4% (12/128) in GET-Evidence
  • Frequency shown in summary reports: 8.9% (953/10758)

Publications
 

Genomes
 

hu034DB1 - CGI sample GS00253-DNA_A02_200_37
het T @ chr2:231077110

 

hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
het T @ chr2:231077110

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr2:231077110

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr2:231077110

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr2:231077110

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr2:231077110

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr2:231077110

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr2:231077110

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr2:230785354

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr2:230785354

 

GS18537 - var-GS18537-1100-36-ASM
het T @ chr2:230785354

 

GS18555 - var-GS18555-1100-36-ASM
het T @ chr2:230785354

 

GS18558 - var-GS18558-1100-36-ASM
het T @ chr2:230785354

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr2:230785354

 

Other external references
 

    dbSNP
  • rs9061
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the SP110 gene
    Hepatic Veno-occlusive Disease with Immunodeficiency
    Charcot-Marie-Tooth Neuropathy Type 1
    Charcot-Marie-Tooth Neuropathy Type 1A
    Charcot-Marie-Tooth Neuropathy Type 1E
    Hereditary Neuropathy with Liability to Pressure Palsies
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SP110
    Web search results (5 hits -- see all)
  • PolyPhen: results for Q9HB58 E207K
    TRANSCRIPTIONAL COACTIVATOR SP110. LENGTH: 689 AA. Prediction. This variant is predicted to ... Mapping of the substitution site to known protein 3D structures ...
    tux.embl-heidelberg.de/ramensky/data/html/SNP000012244.html
  • Type III 95%
    ... (s) for variant Reference(s) for phosphorylation site TPSD1 Q9BZJ3 P15R 14 ... (0.701) TSC, could be a polymorphism 9302281 SP110 Q9HB58 E207K 210 VAR_027173 ...
    nih.go.kr/phosphovariant/html/family_whole/TypeIII_95.txt

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

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