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Table 3 Pathological analysis of the 22 novel variants of the PAH gene detected in this study

From: Spectrum of PAH gene variants among a population of Han Chinese patients with phenylketonuria from northern China

NO.

Mutation type

Trivial name (Protein effect)

Systematic name (DNA level)

PolyPhen-2

PROVEAN

MutationTaster

 1

Splice

IVS4-14C > T

c.442-14 C > T

  

Polymorphism

 2

IVS8 + 16 T > A

c.912 + 16 T > A

  

Polymorphism

 3

IVS10-13delT

c.1066-13delT

  

Polymorphism

 4

IVS11-3 T > G

c.1200-3 T > G

  

Disease-causing

 5

 

p.Tyr154*

c.462C > A

  

Disease-causing

 6

Nonsense

p.Tyr268*

c.804C > A

  

Disease-causing

 7

 

p.Arg155Valfs*40

c.463delC

  

Disease-causing

 8

Frameshift

p.Ser231Valfs*52

c.690-691insG

  

Disease-causing

 9

 

p.Leu194Glufs*6

c.580C > GA

  

Disease-causing

 10

 

p.Asp75His

c.223 G > C

Damaging

Neutral

Disease-causing

 11

p.Ile94Val

c.280 A > G

Benign

Neutral

Disease-causing

 12

p.Gly188Val

c.563G > T

Damaging

Deleterious

Disease-causing

 13

p.Cys203Ser

c.607 T > A

Damaging

Deleterious

Disease-causing

 14

p.Leu227Val

c.679C > G

Damaging

Deleterious

Disease-causing

 15

Missense

p.Glu228Asp

c.684A > C

Benign

Neutral

Disease-causing

 16

 

p.Ser250Phe

c.749C > T

Damaging

Deleterious

Disease-causing

 17

p.Ser310Cys

c.929C > G

Damaging

Deleterious

Disease-causing

 18

p.Ser339Phe

c.992 T > C

Damaging

Deleterious

Disease-causing

 19

p.Lys341Asn

c.1023G > C

Damaging

Deleterious

Disease-causing

 20

p.Pro362Ser

c.1084 C > T

Damaging

Deleterious

Disease-causing

 21

p.Pro366Ala

c.1096 C > G

Benign

Deleterious

Disease-causing

 22

p.Leu444Phe

c.1330 C > T

Damaging

Deleterious

Disease-causing