APOH W335S - GET-Evidence

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

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(APOH Trp335Ser)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


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)


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.


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

  • rs1801690
  • 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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