| Protein nomenclature |
cDNA Nomenclature |
Exon |
Codon |
Structure |
HCD |
Rearrangement |
Mutation type |
Mutational event |
# records |
| p.Tyr151X |
c.453T>A |
6 |
151 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9930 |
TNMD_HK#63 | M |
|
HK |
|
0 |
|
| p.Tyr151X |
c.453T>G |
6 |
151 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7235 |
TNMD_CN_HOSP#407 | M |
|
CN |
|
0 |
|
| p.Tyr205X |
c.615T>A |
7 |
205 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->A |
2  |
|
|
| p.Tyr222X |
c.666T>A |
8 |
222 |
Actin binding domain |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 14386 |
TNMD_RU#2 | M |
|
RU |
|
0 |
|
| p.Tyr299X |
c.897T>G |
9 |
299 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
T->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 13619 |
NL#D330 | M |
|
NL |
|
0 |
|
| p.Tyr301X |
c.903C>A |
9 |
301 |
CRD-hinge region #1 |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 2382 |
TNMD_FR#F3424313771 | M |
|
FR |
|
0 |
|
| p.Tyr344X |
c.1032T>A |
10 |
344 |
CRD-repeat #1 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7087 |
TNMD_CN_HOSP#484 | M |
|
CN |
|
0 |
|
| p.Tyr828X |
c.2484T>A |
20 |
828 |
CRD-repeat #4 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16003 |
TNMD-US#429 | M |
|
US |
|
0 |
|
| p.Tyr944X |
c.2832T>G |
22 |
944 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
T->G |
2  |
|
|
| p.Tyr997X |
c.2991C>G |
23 |
997 |
CRD-repeat #6 |
|
Small rearrangement |
Tv |
C->G |
3  |
|
|
| p.Tyr1509X |
c.4527T>A |
33 |
1509 |
CRD-repeat #11 |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3250 |
TNMD_FR#F758043011 | M |
|
FR |
|
0 |
|
| p.Tyr1882X |
c.5646C>A |
40 |
1882 |
CRD-repeat #15 |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 9587 |
TNMD_ES_BCN#3 | M |
|
ES |
|
0 |
|
| p.Tyr1882X |
c.5646C>G |
40 |
1882 |
CRD-repeat #15 |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 15255 |
TNMD_UK#109 | M |
|
UK |
|
0 |
|
| p.Tyr1995X |
c.5985T>G |
42 |
1995 |
CRD-repeat #16 |
|
Small rearrangement |
Tv |
T->G |
1  |
|
|
| p.Tyr2092X |
c.6276C>G |
43 |
2092 |
CRD-repeat #16 |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 3476 |
TNMD_FR#F3419611471 | M |
|
FR |
|
0 |
|
| p.Tyr2141X |
c.6423C>A |
44 |
2141 |
CRD-repeat #17 |
|
Small rearrangement |
Tv |
C->A |
1  |
|
|
| p.Tyr2141X |
c.6423C>G |
44 |
2141 |
CRD-repeat #17 |
|
Small rearrangement |
Tv |
C->G |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 16477 |
TNMD-US#1254 | M |
|
US |
|
0 |
|
| p.Tyr2144X |
c.6432T>A |
44 |
2144 |
CRD-repeat #17 |
|
Small rearrangement |
Tv |
T->A |
1  |
|
|
| p.Tyr3072X |
c.9216C>A |
62 |
3072 |
CRD-hinge region #4 |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 6708 |
TNMD_FR#F751478011 | M |
|
FR |
|
0 |
|
| p.Tyr3072X |
c.9216C>G |
62 |
3072 |
CRD-hinge region #4 |
|
Small rearrangement |
Tv |
C->G |
1  |
|
|
| p.Tyr3092X |
c.9276C>A |
63 |
3092 |
CRD-hinge region #4 |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 648 |
TNMD_CA_DM#126 | M |
|
CA |
|
0 |
|
| p.Tyr3440X |
c.10320T>A |
72 |
3440 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
T->A |
1  |
|
|
| p.Tyr3475X |
c.10425C>A |
74 |
3475 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
C->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7089 |
TNMD_CN_HOSP#483 | M |
|
CN |
|
0 |
|
| p.Tyr3524X |
c.10572T>A |
75 |
3524 |
Carboxy-terminal region |
|
Small rearrangement |
Tv |
T->A |
1  |
| UMD_id |
Sample ID |
Gender |
Mutation status |
Geographic origin |
Phenotypic group |
References |
| 7028 |
TNMD_FR#F3424514521 | M |
|
FR |
|
0 |
|