Table 2. ATP1A3 mutations identified in 45 Chinese typical AHC patients.
| Nucleotide change | Exon | Amino acid change | Number of cases |
| c.410C>A | 5 | S137Y | 1 |
| c.1109C>Aa | 9 | T370N | 1 |
| c.2116G>Aa | 16 | G706R | 1 |
| c.2263G>A | 16 | G755S | 1 |
| c.2263G>T | 16 | G755C | 1 |
| c.2312C>Aa | 17 | T771N | 1 |
| c.2312C>Ta | 17 | T771I | 1 |
| c.2316C>Gb | 17 | S772R | 1 |
| c.2401G>A | 17 | D801N | 14 |
| c.2405T>Ca | 17 | L802P | 1 |
| c.2413G>Ca | 17 | D805H | 1 |
| c.2417T>Ac | 17 | M806K | 1 |
| c.2423C>Ta | 18 | P808L | 1 |
| c.2429T>Ac | 18 | I810N | 1 |
| c.2443G>A | 18 | E815K | 9 |
| c.2516T>Ca | 18 | L839P | 1 |
| c.2767G>T | 20 | D923Y | 1 |
| c.2839G>A | 21 | G947R | 5 |
| c.2839G>C | 21 | G947R | 2 |
ATP1A3 mutation coordinates were defined on the basis of NM_152296.4 and NP_689509.1.
a
The locus of mutation was newly identified.
b
The locus of mutation and amino acid change had been reported before, but nucleotide change was newly identified.
c
The locus of mutation had been reported before, but nucleotide change and amino acid change were newly identified.