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Table 3 Functional annotation of AXIN2 (c.1181G > A: p.R394H, rs200899695)

From: An Axin2 mutation and perinatal risk factors contribute to sagittal craniosynostosis: evidence from a Chinese female monochorionic diamniotic twin family

Block/Annotation Name

Data

ClinVar

 Allele Origin

germline

Variant Category

 Disruptive Missense a

Yes

 GeneHancer b

Yes

 SuperEnhancer c

Yes

Protein Function

 Polyphen2_HDIV

Probably damaging

 Polyphen2_HVAR

possibly damaging

 MutationTaster

Disease causing

 LRT

Deleterious

 SIFT

Deleterious

 MutationAssessor

predicted functional (medium)

 FATHMM

Deleterious

 PROVEAN

Deleterious

 MetaSVM

Deleterious

 MetaLR

Deleterious

 M-CAP

Deleterious

 CADD_phred

Deleterious

 Fathmm-MKL_coding

Deleterious

  1. a Defined as “disruptive” by the ensemble MetaSVM annotation
  2. b Predicted human enhancer sites from the GeneHancer database
  3. c Predicted super-enhancer sites and targets in a range of human cell types
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Hereditas

ISSN: 1601-5223

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