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Fig. 3 | BMC Medical Genetics

Fig. 3

From: Targeted next generation sequencing in 112 Chinese patients with intellectual disability/developmental delay: novel mutations and candidate gene

Fig. 3

The variant in PTPRD in Patient 11. (a) PTPRD sequence result of Patient 11. Arrow indicates the mutation site of c.5534 + 1G > A in PTPRD. (b) Predicted change in splice donor site of intron 44. The variant c.5534 + 1G > A disrupted the wild type splice donor site (arrow and red “at”) and created a new potential splice donor site at c.5534 + 73_5534 + 74GT (red “gt”). The abnormal splicing will cause retention of 72 nucleotides on upstream of the new donor site in intron 44 (underlined), create a premature stop codon at position 1846 (orange box), and lead to premature truncation of the protein p.(Ser1845ArgfsTer2). (c) PTPRD protein structure. PTPRD protein is a single-pass type I membrane protein and predicted to contain conserved function domains: three Ig-like C2 domains (Ig-like C2 type1, Ig-like C2 type2 and Ig-like C2 type3) (Purple), eight fibronectin type-III domains (Orange), and two tyrosine-protein phosphatase domains (Green) (https://www.uniprot.org/uniprot/P23468). As predicted, the truncated protein (p.(Ser1845ArgfsTer2)) will lack part of tyrosine-protein phosphatase 1 domain (dotted box)

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BMC Medical Genetics

ISSN: 1471-2350

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