Table 2.
Nonpathogenic Variants of the GUSB Gene*
| Base changea | Codon change | Effect | Region | Reference |
|---|---|---|---|---|
| c.454G>A | GAC>AAC | p.D152N | Exon 3 | Vervoort et al. [1995]; Vervoort et al. [1998a] |
| c.1740T>C | TAT>TAC | Exon 11 | Vervoort et al. [1998a] | |
| c.1946C>T | CCG>CTG | p.P649L | Exon 12 |
Tomatsu et al. [1991]; Wu et al. [1994]; Vervoort et al. [1997]; Vervoort et al. [1998a] |
*
The numbers for the nucleotide changes are reported in accordance with GenBank entry NM_010368.1, NP_034498.1.
a
The DNA mutation numbering is based on cDNA sequence. Nucleotides numbered from the ATG initiator codons as suggested by den Dunnen and Antonarakis et al. [2001] and per HGVS guidelines (www.hgvs.org).