Table 2 Summary of the RPS29 mutations... | American Society of Hematology

Table 2

Summary of the RPS29 mutations and in silico analyses

Analysis/variable	Family NCI-193	Family NCI-38
Summary of mutation
Cytoband	14q21.3	14q21.3
Genomic location (chromosome 14)*	g.50052739A>T; cDNA.121T>A	g.50052681T>C; cDNA.179A>G
Amino acid change	Exon 2, p.Ile31Phe	Exon 2, p.Ile50Thr
Codon change†	ATC>tTC	ATC>AcC
In silico analyses‡: severity of the amino acid substitution
PolyPhen-2²⁰ (score)	Possibly damaging (0.54)	Possibly damaging (0.585)
SIFT²¹ (score)	Deleterious (0)	Deleterious (0.01)
Mutation Taster²² (score)	Disease-causing (0.99)	Disease-causing (0.99)
LRT²⁶ (score)	Deleterious (0)	Deleterious (0)
In silico analyses: evolutionary conservation
SiPhy²³ score§	15.43	15.16
GERP++²⁴ score	6.06	5.90
PhyloP²⁵ score	2.32	2.26
Sitewise likelihood-ratio²⁸ score	−28.21	−22.38
In silico analyses: protein stability
MUpro²⁹ (confidence score)	Decrease stability (–0.89)	Decrease stability (–0.99)
I-Mutant³¹ (reliability index)	Large decrease of stability (8)	Decrease stability (9)

Analysis/variable	Family NCI-193	Family NCI-38
Summary of mutation
Cytoband	14q21.3	14q21.3
Genomic location (chromosome 14)*	g.50052739A>T; cDNA.121T>A	g.50052681T>C; cDNA.179A>G
Amino acid change	Exon 2, p.Ile31Phe	Exon 2, p.Ile50Thr
Codon change†	ATC>tTC	ATC>AcC
In silico analyses‡: severity of the amino acid substitution
PolyPhen-2²⁰ (score)	Possibly damaging (0.54)	Possibly damaging (0.585)
SIFT²¹ (score)	Deleterious (0)	Deleterious (0.01)
Mutation Taster²² (score)	Disease-causing (0.99)	Disease-causing (0.99)
LRT²⁶ (score)	Deleterious (0)	Deleterious (0)
In silico analyses: evolutionary conservation
SiPhy²³ score§	15.43	15.16
GERP++²⁴ score	6.06	5.90
PhyloP²⁵ score	2.32	2.26
Sitewise likelihood-ratio²⁸ score	−28.21	−22.38
In silico analyses: protein stability
MUpro²⁹ (confidence score)	Decrease stability (–0.89)	Decrease stability (–0.99)
I-Mutant³¹ (reliability index)	Large decrease of stability (8)	Decrease stability (9)

Annotation based on the reference human genome UCSC build hg19/Genome Reference Consortium GRCh37.

Lowercase letter indicates the mutant nucleotide.

Program used to analyze the in silico prediction.

Score based on conservation in 29 mammals at this site.