GATA2 mutations identified in MonoMAC patients
| Kindred* . | Patient* . | DNA change† . | Codon† . | Null‡ . |
|---|---|---|---|---|
| 1 | 1.II.1 | c.1192 C → T | R398W | |
| 1 | 1.II.5 | c.1192 C → T | R398W | |
| 2 | 2.II.3 | c.1192 C → T | R398W | |
| 3 | 3.I.1 | c.1192 C → T | R398W | |
| 5 | 5.II.1 | c.1061 C → T | T354M | |
| 8 | 8.I.1 | c.243_244delAinsGC | G81fs | + |
| 9 | 9.III.1 | c.1192 C → T | R398W | |
| 10 | 10.1.1 | c.1113 C → G | N371K | |
| 12 | 12.I.1 | c.1083_1094del 12 bp | R361delRNAN | |
| 13 | 13.II.1 | c.1–200_871 + 527del 2033 bp | M1del290 | + |
| 13 | 13.I.2 | c.1–200_871 + 527del 2033 bp | M1del290 | + |
| 15 | 15.II.1 | c.1186 C → T | R396W | |
| 17 | c.1061 C → T | T354M | ||
| 18 | c.1187 G → A | R396Q | ||
| 19 | c.1061 C → T | T354M | ||
| 20 | c.778_779ins 10 bp | D259fs | + | |
| 21 | c.1192 C → T | R398W | ||
| 22 | c. 951_952ins 11 bp | N317fs | + | |
| 23 | c. 751 C → T | P254L | ||
| 24 | c. 1018–1 G → A | D340–381 |
| Kindred* . | Patient* . | DNA change† . | Codon† . | Null‡ . |
|---|---|---|---|---|
| 1 | 1.II.1 | c.1192 C → T | R398W | |
| 1 | 1.II.5 | c.1192 C → T | R398W | |
| 2 | 2.II.3 | c.1192 C → T | R398W | |
| 3 | 3.I.1 | c.1192 C → T | R398W | |
| 5 | 5.II.1 | c.1061 C → T | T354M | |
| 8 | 8.I.1 | c.243_244delAinsGC | G81fs | + |
| 9 | 9.III.1 | c.1192 C → T | R398W | |
| 10 | 10.1.1 | c.1113 C → G | N371K | |
| 12 | 12.I.1 | c.1083_1094del 12 bp | R361delRNAN | |
| 13 | 13.II.1 | c.1–200_871 + 527del 2033 bp | M1del290 | + |
| 13 | 13.I.2 | c.1–200_871 + 527del 2033 bp | M1del290 | + |
| 15 | 15.II.1 | c.1186 C → T | R396W | |
| 17 | c.1061 C → T | T354M | ||
| 18 | c.1187 G → A | R396Q | ||
| 19 | c.1061 C → T | T354M | ||
| 20 | c.778_779ins 10 bp | D259fs | + | |
| 21 | c.1192 C → T | R398W | ||
| 22 | c. 951_952ins 11 bp | N317fs | + | |
| 23 | c. 751 C → T | P254L | ||
| 24 | c. 1018–1 G → A | D340–381 |
Numbering refers to patient and kindred numbers from Vinh et al.1
Numbering relative to adenine in the ATG start codon of GATA2 (GenBank NM_001145661.1) and the first methionine (GenBank NP_116027.2).
Predicted to result in loss of mRNA or protein from mutant allele.