Skip to main content

Table 2 List of reported MUTYH variants

From: Base excision repair and the role of MUTYH

Type of mutation

Name of mutation/variant

References

Nonsense

R83X

[106]

 

Y90X

[107]

 

E182X

[108]

 

Q196X

 
 

R233X

 
 

Q300X

[108]

 

E466X

[109]

Insertions/deletions

199delGT

 
 

252delG

 
 

263insAG

 
 

379delC

 
 

817delG

 
 

1059insC

 
 

1103–1105delC

 
 

1186–1187insGG

 
 

1419delC

 

Splice

IVS1(36)+1G>A

[110]

 

IVS1(36)+5G.C

[111]

 

IVS4(347)-1G>C

 
 

IVS4(347)-1G>A

 
 

IVS5(421)-1G>C

 
 

IVS8(649)-1G>A

 
 

IVS10(891)+3A>C

 
 

IVS10(892)-2A>G

[112]

 

IVS12(1145)-2A>G

 
 

IVS13(1281)+25del30

[108]

 

IVS15(1476)+2T>C

 

Missense and inframe ins/dels

M15V

 
 

P18L

[113]

 

V22M

[114]

 

G25D

[113]

 

V61E

[115]

 

D91N

[116]

 

Y114H

 
 

W117R

 
 

137insIW

 
 

P143L

 
 

D147H

 
 

Y165C

 
 

Y166S

 
 

R168H

 
 

R168L

 
 

R68C

 
 

R171Q

 
 

G175E

 
 

I209V

 
 

V220M

 
 

R227W

 
 

R231C

 
 

R231H

 
 

V232F

 
 

R260Q

 
 

R260W

 
 

M269V

 
 

C276W

 
 

P281L

 
 

R295C

 
 

Q324H

[114]

 

Q324R

 
 

F344Y

 
 

P345T

 
 

P366T

[116]

 

L374P

 
 

G382D

 
 

P391S

 
 

P391L

 
 

Q400R

 
 

A405T

 
 

L406M

 
 

R412C

 
 

R423P

[117]

 

R423Q

[117]

 

R423R

[117]

 

A459D

 
 

A459T

 
 

1391delAGG

 
 

1395delGGA (466delE)

 
 

V479F

 
 

Q484H

 
 

S501F

[114]

 

P502L

Â