Study
|
Subjects
|
Mutations
|
Nucleotidea
|
Proteinb
|
Exon/intron
|
---|
Durand et al. [2]
|
227
|
1
|
g.51159940-51159941insG
|
p.A1227fs
|
exon 21
|
Moessner et al.[6]
|
400
|
1
|
g.51121844A>G
|
p.Q321R
|
exon 8
|
Gauthier et al. [22]
|
427
|
1
|
g.51153476delG
|
(splice site deletion)
|
intron 19
|
Schaaf et al. [23]
|
339
|
0
| | | |
Boccuto et al. [24]
|
221
|
2
|
g.51117094C>G
|
p.P141A
|
exon 4
|
g.51160144delG
|
p.E1295fs
|
exon 21
|
Total
|
1,614
|
5 (0.31%)
| | | |
- a Genomic locations are based on GRCh37 (hg 19). bSHANK3 reference sequence NM_033517.1 (mRNA) and NP_277052.1 (protein).