Table 3 Human MLKL brace helix compound heterozygotes in CRMO vs healthy controls.

From: A missense mutation in the MLKL brace region promotes lethal neonatal inflammation and hematopoietic dysfunction

Population

Frequency of relevant compound Hetsa in CRMO

Frequency of relevant compound Hetsa in healthy controls

CRMO:Healthyb

2 tailed P value (Fisher’s exact)

2 tailed P value (chi square with Yate’s)

Globalc

0.023 (3/128)

0.0008 (2/2504) NIH 1KG

29:1

0.001

0.0001

Europeand

0.02 (2/101)

0.002 (1/503) NIH 1KG

10:1

0.074

0.1215

Europeand

0.02 (2/101)

0.0017 (25/14,542) QUT controls

12:1

n/a

0.0022

  1. aCombinations of R146Q – rs34515646, S132P – rs35589326 and G202*V – rs144526386 (Fig. 5e).
  2. bFrequency ratio rounded to nearest whole number.
  3. cCRMO patients and healthy controls of all ancestries included.
  4. dCRMO patients and healthy controls of only European descent included.
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