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Table 4 In silico prediction of functional significance of OXTR missense variants identified by resequencing

From: Sequence variants in oxytocin pathway genes and preterm birth: a candidate gene association study

Amino acid change

PolyPhen

SIFT

Prediction

PSIC score difference

Prediction

Tolerance index

A11T

Benign

N/A

Tolerated

0.44

V45L

Benign

N/A

Tolerated

0.11

P108A*

Probably damaging

2.243

Affect protein function

0.04

Q143R

Benign

0.286

Tolerated

0.67

V172A

Benign

0.820

Tolerated

0.37

W203R*

Probably damaging

4.115

Affect protein function

0.00

L206V

Benign

0.319

Tolerated

0.41

V211L

Benign

N/A

Tolerated

0.41

A218T

Benign

0.324

Tolerated

0.36

A238T

Benign

0.330

Tolerated

0.59

E242Q

Benign

0.740

Tolerated

0.59

G252A

Benign

0.278

Tolerated

0.74

V281M*

Probably damaging

2.013

Affect protein function

0.00

F284L*

Probably damaging

2.208

Affect protein function

0.01

  1. *Amino acid substitutions with predicted deleterious effects.
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BMC Medical Genetics

ISSN: 1471-2350

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