Table 1. Characteristics of PROM1 SNP in Chinese family with adSTGD and analysis of their predicted protein structure and disease-causing effects.
Exon | Variation | Polyphen-2 | Mutation Taster | I-Mutant3.0 | SIFT | EXAC | |||
---|---|---|---|---|---|---|---|---|---|
Nucleotide* | Protein* | Type | Status | ||||||
7 | c.734 T>C | P.L245P | Missense | Heter | PD (1.000) | DC (98) | DS (-1.59 kcal/mol) | D (0.01) | Novel |
Abbreviations: c, variation at cDNA level; p, variation at protein level; L245P, Proline substitution conserved leucine at codon 245; Heter, heterozygote; PD, probably damaging; DC, disease causing; DS, Decrease stability; D, damaging.
* All nucleotide and amino acid abbreviated according the International Union of Pure and Applied Chemistry (IUPAC).