Table 1.
Summary of the somatic mutations in Cosmc identified in patients with Tn syndrome.
|
Patient (gender) |
Tn/STn expression |
Mutation of Cosmc gene |
Change in Cosmc protein |
Activity |
Ref. |
|---|---|---|---|---|---|
|
C.C. (male) |
Tn and STn |
C202T |
R68* |
2–5 % |
|
|
C.L. (male) (Tn1) |
Tn and STn |
G454A |
E152K |
0 |
|
|
Tn2 (female) |
Tn and STn |
T577C |
S193P |
NT[a] |
|
|
Tn3 (male) |
Tn and STn |
G3C |
M1I |
NT[a] |
|
|
Tn4 (male) |
Tn and STn |
no transcript (in gene C428T) |
no protein |
0 |
[a] Not tested. * indicates a stop codon.