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/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 |
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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.
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