Table 1.
Genomic and RT-PCR Sequencing Results from MLE-15/Hermansky-Pudlak Syndrome Clones
| Gene Target | Allele | Genomic Sequence Variant* | Protein Mutation† |
|---|---|---|---|
| Hps1 | Allele 1 (upper band) | C.103_104ins229 (net gain: 230) | —‡ |
| Allele 2 (lower band) | C.14_96delins76 (net loss: 7) | p.Leu5Trpfs*51 | |
| Ap3b1 | Allele 1 (upper band) | g.825_830del (net loss: 6) | p.Met1Ser |
| Allele 2 (lower band) | g.825_951delinsA (net loss: 126) | p.Met1Leu | |
| Hps3 | Allele 1 (upper band) | g.182_192del (net loss: 11) | p.Val16fs*20 |
| Allele 2 (lower band) | g.189_316delinsTC (net loss: 127) | p.Glu19Serfs*15 | |
| Bloc1s6 | Allele 1 | g.40_111del (net loss: 72) | p.Pro8Leufs*11 |
*
Genomic sequence variant: deletion mutation and insertion mutation by Human Genome Variation Society (HGVS) nomenclature (http://varnomen.hgvs.org/).
†
Protein mutation: translational consequence of deletion by HGVS nomenclature.
‡
Large genomic insertion resulted in a faint band containing a nonspecific sequence.