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Table 2 Identified mutation in GLB1 gene in the probands and the consequences of mutation using different bioinformatics analysis

From: Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene

Chr

Position

Ref

Alt

Location

Gene

SNP_ID

Function

3

33099713

G

A

exonic

GLB1

rs72555360

nonsynonymous

Transcript_ID

Exon

cDNA

Protein

Transcript_ID

Exon

cDNA

Protein

NM_000404

exon6

c.C601T

p.R201C

NM_001079811

exon6

c.C511T

p.R171C

ESP_Frequency

1000g_freq

SIFT

Prediction

Polyphen

Prediction

LRT_score

LRT_pred

0.0002

.

0.01

Damaging

1

Damaging

0

Damaging

MutationTaster

Prediction

MutationAssessor

Prediction

FATHMM

Prediction

RadialSVM

Prediction

1

A

3.435

Medium

−4.76

Damaging

1.085

Damaging

SNP_ID

Clinvar_ID

Clinvar_ID

Disease

LR_score

LR_pred

VEST3_score

CADD_raw

rs72555360

pathogenic

RCV000000973.1

Juvenile_GM > 1 < _gangliosidosis

0.974

Damaging

0.947

4.289

CADD_phred

GERP++_RS

phyloP46way_placental

phyloP100way_vertebrate

SiPhy_29way_logOdds

   

22.4

5.57

2.78

9.242

19.517