Supplemental Figure S1: Linkage disequilibrium plot consisting of seven FIGLA variants.

Supplemental Table S1. Results of in silico analysis of FIGLA variants.

Softwares predicitng effect on protein (D=DELETERIOUS/PATHOLOGICAL,

N=NEUTRAL) Software

predicitng splicing effect Sl

no. Variant Gene

location Predicted

effect PolyPhen

-2 SIFT Mutati on Taster

ALIGN

GVGD Mupro I- Mutant

v2.1 PMut PROVEN Prediction score

Normal splicing NetGene2

Overall prediction

1 c.239A>T Exon 2 Synonymous

change yes Non-

pathogenic

2 c.252C>T Exon 2 p.(Arg83Cys) D (Score-

1.000)

D (Score-

0.05) D D (Affect function)

D (Decrease protein stability)

D (RI-

7) D

D (Score=-

3.933) 8/8 No Pathogenic

3 c.427G>C Exon 3 p.(Ser141Thr) D (Score-

0.596) N D D (Affect

function)

D (Decrease protein stability)

D (RI-

2) N

N (Score=0.

656) 5/8 yes Pathogenic 4 c.557C>T Exon 3 Synonymous

change yes Non-

pathogenic

5 c.649+8A>G Intron 4 yes Non-

pathogenic

6 c.*5T>A 3’ UTR yes Non-

pathogenic

7 c.*7A>G 3’ UTR yes Non-

pathogenic

Supplemental Figure S1: Linkage disequilibrium plot consisting of seven FIGLA variants.

Footnote- Haploview plots are presented along the single nucleotide polymorphisms studied.

The pair-wise linkage disequilibrium values (D′ = 0–100) of all single nucleotide polymorphisms are given in

each diamond. A value of 100 represents maximum possible linkage disequilibrium.