Skip to main content

Table 1 Sequence variants identified in the NSD1 gene in 88 patients with autism spectrum disorders and macrocephaly

From: Mutation analysis of the NSD1 gene in patients with autism spectrum disorders and macrocephaly

Location and Nucleotide Change Protein Change Frequency Inheritance Previously described1
Intron 1     
   IVS1+6T→C ... 1 T/C Paternal No
Exon 2     
   c.339C→T C113C 1 T/T Paternal/maternal, present in 1 sib with autism and 1 unaffected sib [27, 33]
Exon 5     
   c.1482C→T C494C 38 C/T, 2 T/T   rs1363405
   c.1811G→T R604L 1 G/T Paternal (no siblings) [27]
   c.1749G→A E583E 19 G/A, 1 A/A   rs3733874
   c.1792T→C L598L 3 T/C   rs28932176
   c.840G→T V614L 19 G/T, 1 T/T   rs3733875
   c.2071G→A A691T 5 G/A   rs28932177
   c.2176T→C S726P 22 T/C, 2 C/C   rs28932178
   c.2465C→G S822C 1 C/G Maternal, present in 1 unaffected sib No
   c.2835T→C S945S 1 T/C Maternal (absent in 1 sib with autism) No
   c.3106G→C A1036P 5 G/C   rs28932179
   c.3705T→C N1235N 13 T/C   rs28932181
Exon 10     
   c.4496A→G E1499G 1 A/G Paternal, present in 1 unaffected sib No
Intron 14     
   IVS14-45C→G ... 1 C/G Maternal, present in 1 unaffected sib No
Intron 17     
   IVS17-22G→A ... 16 G/A   [51, 52]
Exon 23     
   c.6750G→A M2250I 16 G/A   rs35848863
   c.6782T→C M2261T 16 T/C   rs34165241
   c.6829C→T L2277L 19 C/T, 1 T/T   rs28580074
   c.6903G→C G2301G 29 G/C, 4 C/C   rs11740250
   c.7636G→A A2546T 11 G/A   [32, 52]
  1. 1 References are given only for variants without a RefSNP accession ID (rs number)