A Novel Loss-of-Sclerostin Function Mutation in a First Egyptian Family with Sclerosteosis

Table 2

Data of Mutation Taster (MT) tool about prediction of effect of c.87_88insC mutation.

Summary	□ NMD
	□ Amino acid sequence changed
	□ Frameshift
	□ Protein features (might be) affected
	□ Splice site changes
Analysed issue	Analysis result
Name of alteration (HGNC)	SOST
Alteration (phys. location)	chr17: 41836022_41836023insG
Alteration type/region	Insertion/CDS
AA changes
Position(s) of altered AA	30 (frameshift or PTC further changes downstream)
Frameshift	Yes
phyloP/phastCons	2.271, 1 (flanking)/0.445, 1 (flanking)
Length of protein	NMD
Position (AA) of stop codon in wt/mu AA sequence	214/32
Theoretical NMD boundary in CDS	170
Wild type AA sequence	MQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPE LGEYPEPPPELENNKTMNRAENGGRPPHHPFETKDVSEY; SCRELHFTRYVTDGPCRSAKPVTELVCSGQCGPARLLPN; AIGRGKWWRPSGPDFRCIPDRYRAQRVQLLCPGGEAPRA RKVRLVASCKCKRLTRFHNQSELKDFGTEAARPQKGRK; PRPRAR SAKANQAELE NA
Mutated AA sequence	MQLPLALCLVCLLVHTAFRVVEGQGWQAFQ

All positions are in base pairs (bp) if not explicitly stated differently. AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wild type; TGP: 1000 Genomes Project.