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Table 2 Comparison of all known human S1PR2 pathogenic variants

From: The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

 

Family

Prediction of Variation

E30

DEM4154

PKDF1400

hg19 position, Chr.19

10,335,259

10,335,259

10,335,163

cDNA change

c.323G>A

c.323G>C

c.419A>G

Amino acid change

p.Arg108Gln

p.Arg108Pro

p.Tyr140Cys

ExAC

0

0

0

gnomAD

0

0

0

CADD

34

21.7

22.9

MutationTaster

Disease causing

Disease causing

Disease causing

SIFT

Deleterious

Deleterious

Tolerated

PolyPhen-2

Probably damaging

Probably damaging

Probably damaging

ClinVar

No entry

Pathogenic

Pathogenic

DVD

No entry

No entry

No entry

HGMD

No entry

Hearing impairment, autosomal recessive

Hearing impairment, autosomal recessive