Figure 2 | Human Genome Variation

Figure 2

From: A novel PTCH1 mutation in a patient with Gorlin syndrome

Figure 2

Electropherogram of the PTCH1 exon 3 sequence showing the heterozygous germline duplication of a thymine (T) in the patient DNA. The DNA and corresponding amino-acid sequences of wild-type and mutant PTCH1 alleles are also shown. The affected transcript and protein were labeled NM_000264.3 (PTCH1_v001):c.426dup and NM_000264.3 (PTCH1_i001):p.(Thr143Tyrfs*12), respectively, using the Human Genome Variation Society (HGVS) nomenclature version 2.0 (Mutalyzer 2.0.beta-32, https://mutalyzer.nl/). The arrow indicates the duplication point.

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