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Table 1 Missense Kabuki syndrome and control variants in KDM6A used on our experiments

From: Molecular mechanics and dynamic simulations of well-known Kabuki syndrome-associated KDM6A variants reveal putative mechanisms of dysfunction

Variant

Mutation

Protein Change

Clinical Data

Segregation

Classification

(PMID) and Databases

H1146A

 

p.(His1146Ala)

NA

NA

Damaging

17,761,849, 18,003,914

E1148A

 

p.(Glu1148Ala)

NA

NA

Damaging

17,761,849

H1060L

c.3197A > T

p.(His1060Leu)

NA

NA

Benign

24,728,327, ClinVar, dbSNP

S912N

c.2735G > A

p.(Ser912Asn)

GP

NA

Benign

gnomAD

T1323A

c.3967A > G

p.(Thr1323Ala)

GP

NA

Benign

gnomAD

N910S

c.2729A > G

p.(Asn910Ser)

KS a

Inherited

VUS

27,302,555

D980V

c.2939A > T

p.(Asp980Val)

KS

De novo

Pathogenic

24,633,898, 30,107,592, HGMD

S1025G

c.3073A > G

p.(Ser1025Gly)

KS

Inherited

Likely Pathogenic

27,302,555, Clinvar

C1153R

c.3457 T > C

p.(Cys1153Arg)

KS

 

VUS

ClinVar

C1153Y

c.3458G > A

p.(Cys1153Tyr)

KS

De novo

Likely Pathogenic

ClinVar

P1195L

c.3584C > T

p.(Pro1195Leu)

KS

De novo

Likely Pathogenic

ClinVar

L1200F

c.3598C > T

p.(Leu1200Phe)

KS

Inherited

Likely Pathogenic

ClinVar

Q1212R

c.3536A > G

p.(Gln1212Arg)

KS

Germline

Likely Pathogenic

ClinVar

Q1248R

c.3743A > G

p.(Gln1248Arg)

KS

De novo

Pathogenic

30,107,592

R1255W

c.3763A > G

p.(Arg1255Trp)

KS b

De novo

Pathogenic

27,302,555, ClinVar

R1351Q

c.4052G > A

p.(Arg1351Gln)

KS

 

VUS

ClinVar

  1. GP, General Population, KS, Kabuki Syndrome
  2. aclassic KS facial features, intellectual disability; no cardiac/renal dysfunction
  3. bmild motor delay, no-to-little cognative disability