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Table 4 Mutation characteristics SIFT polyphen scores and AA change

From: Systematic data-querying of large pediatric biorepository identifies novel Ehlers-Danlos Syndrome variant

#Chrom

Position Hg19

Reference allele

Mutant allele

Gene

Type of mutation

Amino acid change

PolyPhen2 score

Sift score

Chr9

13641800

G

A

ADAMTSL2

Nonsynonymous

Gly421Ser

0.707

0.24

  1. We identified a nonsynomous mutation resulting in an amino acid change—G1261A—at position 13641800 on chromosome 9