Research Article

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/regionInsertion/CDS
AA changes
Position(s) of altered AA30 (frameshift or PTC further changes downstream)
FrameshiftYes
phyloP/phastCons2.271, 1 (flanking)/0.445, 1 (flanking)
Length of proteinNMD
Position (AA) of stop codon in wt/mu AA sequence214/32
Theoretical NMD boundary in CDS170
Wild type AA sequenceMQLPLALCLVCLLVHTAFRVVEGQGWQAFKNDATEIIPE LGEYPEPPPELENNKTMNRAENGGRPPHHPFETKDVSEY
SCRELHFTRYVTDGPCRSAKPVTELVCSGQCGPARLLPN
AIGRGKWWRPSGPDFRCIPDRYRAQRVQLLCPGGEAPRA RKVRLVASCKCKRLTRFHNQSELKDFGTEAARPQKGRK
PRPRAR SAKANQAELE NA
Mutated AA sequenceMQLPLALCLVCLLVHTAFRVVEGQGWQAFQ

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.