Table 2 In silico analysis of COL3A1 mutations.

From: The chemical chaperone 4-phenylbutyric acid rescues molecular cell defects of COL3A1 mutations that cause vascular Ehlers Danlos Syndrome

SYMBOL

EXON

cDNA

Protein

SIFT

PolyPhen

CADD_PHRED

COL3A1

6/51

682

G189S

deleterious(0.01)

probably_damaging(1)

32

COL3A1

39/51

2833

G906R

deleterious(0)

probably_damaging(0.999)

31

  1. CADD > 20 and >30 indicate top 1% and top 0.1% of single nucleotide variants.
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