APOH W335S - GET-Evidence

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

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Curation:
Currentness:

APOH W335S

(APOH Trp335Ser)


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

  • G @ chr17:64208285: 3.7% (398/10758) in EVS
  • G @ chr17:61638746: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 3.7% (398/10758)

Publications
 

Sanghera DK, Wagenknecht DR, McIntyre JA, Kamboh MI. Identification of structural mutations in the fifth domain of apolipoprotein H (beta 2-glycoprotein I) which affect phospholipid binding. Hum Mol Genet. 1997 Feb;6(2):311-6. PubMed PMID: 9063752.

These authors note that the mature protein has 19 amino acids less than that predicted by cDNA and report this variant as W316S.

This variant, as well as C306G disrupts phospholipid binding (C325S in GET-Evidence). The authors report that APOH in individuals homozygous or compound heterozygous for these variants fails to bind phospholipids.

Genomes
 

hu011C57 - CGI sample GS01669-DNA_B05 from PGP sample 86486261
het G @ chr17:64208285

 

hu604D39 - CGI sample GS00253-DNA_B02_200_37
het G @ chr17:64208285

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom G @ chr17:64208285

 

GS07357 - var-GS07357-1100-36-ASM
het G @ chr17:61638747

 

GS18526 - var-GS18526-1100-36-ASM
het G @ chr17:61638747

 

GS18942 - var-GS18942-1100-36-ASM
het G @ chr17:61638747

 

Other external references
 

    dbSNP
  • rs1801690
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    PolyPhen-2
  • Score: 0.988 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history
 

Gene search

"GENE" or "GENE A123C":

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