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Table 2 Summary of reported ALG3 pathogenic/likely pathogenic sequence variants

From: ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings

Reference

DNA change

Protein change

Zygosity

gnomAD allele frequency

No of affected subjects

Origin and/or ethnicity

Korner [2]

c.353G>A

p.(Gly118Asp)

HOM

0

1

German

Denecke [3], Denecke [4]

c.165 C>Ta

p.Val54Thrfs*13

HOM

0

2

Italian

Schollen [5]

c.796 C>T

p.(Arg266Cys)

HOM

1/248,496

1

White

Sun [6]

c.512G>A

p.(Arg171Gln)

HOM

9/279,202

1

Dominican Republic

Kranz [7]

c.211T>C

c.470T>A

p.(Trp71Arg)

p.(Met157Lys)

HET

HET

0

0

2

White

Rimella-Le-Huu [8]

c.116 C>T

c.512G>A

p.(Pro39Leu)

p.(Arg171Gln)

HET

HET

0

9/279,202

1

Swiss/Italian

Riess [9]

c.206T>C

c.626T>C

p.(Ile69Thr)

p.(Met209Thr)

HET

HET

0

0

2

Vietnamese

Lepais [10]

c.286G>A

p.(Gly96Arg)

HOM

5/248,964

2

Turkish

Fiumara [11]

c.564_566del

c.[1125G>A;

c.1127del]

p.(Leu190del)

p.[(Met375Ile;

Pro376Leufs*92)]

HET

HET

0

2/248,976;0

1

NR

Barba [12]

c.1 A>G

p.(Met1?)

HOM

1/189,664

1

NR

 

c.165C>Ta

c.1061G>A

p.Val54Thrfs*13

p.(Arg354His)

HET

HET

0

5/248,666

1

NR

Alsubhi [13]

c.512G>A

p.(Arg171Gln)

HOM

9/279,202

7

Saudi Arabian

Himmelreich [14]

c.165 C>Ta

p.Val54Thrfs*13

HOM

0

1

Turkish

 

c.1263G>A

p.(Trp421*)

HOM

0

1

Iraqi

 

c.165 C>Ta

c.350G>C

p.Val54Thrfs*13

p.(Arg117Pro)

HET

HET

0

1/248,826

1

Albanian

 

c.296+4G>Ab

c.1037 A>G

p.Tyr66Cysfs*43

p.(Asn346Ser)

HET

HET

0

0

1

French

Bian [15]

c.512G>T

c.511 C>T

p.(Arg171Leu)

p.(Arg171Trp)

HET

HET

1/247,844

4/247,478

2

Chinese

Paketci [16]

c.165 C>Ta

p.Val54Thrfs*13

HOM

0

2

NR

Ferrer [17]

c.1188G>A

p.(Trp396*)

HOM

0

2c

Pakistani

Alsharhan [18]

c.656T>C

c.749T>A

p.(Leu219Pro)

p.(Leu250Gln)

HET

HET

0

0

1

White

 

c.796 C>T

p.(Arg266Cys)

HOM

1/248,496

1

Ecuador

 

c.796 C>T

p.(Arg266Cys)

HOM

1/248,496

1

Ecuador

 

c.991 C>T

c.914 C>A

p.(Gln331*)

p.(Ala305Asp)

HET

HET

0

2/247,836

1

African American

 

c.512G>T

p.(Arg171Leu)

HOM

9/279,202

1

Arabic

 

c.611 C>T

c.1154G>C

p.(Ala204Val)

p.(Arg385Thr)

HET

HET

0

0

1

African American

 

c.72G>A

c.521 A>G

p.(Trp24*)

p.(Asn174Ser)

HET

HET

0

0

1

White

 

c.395 A>G

c.752T>C

p.(Tyr132Cys)

p.(Leu251Pro)

HET

HET

1/249,172

0

2

White

 

c.410_411insTGTCTTCTTGCT

p.(Leu137_Leu138insValPheLeuLeu)

HOM

0

1

Saudi Arabian

Current study

c.116del

c.1060 C>Td

p.(Pro39Argfs*40)

p.(Arg354Cys)

HET

HET

0

6/248,692

1

Czech

  1. HET heterozygous, HOM homozygous, N no, NR not reported, Y yes
  2. aPredicted at protein level to be silent, i.e. p.(=), the variant was however shown at cDNA level to lead to deletion of 37 bp (r.160_196del) with aberrant splicing and introduction of premature termination codon
  3. bAt cDNA level leading to exon 2 deletion (r.197_296del)
  4. cBoth also carried a homozygous variant of uncertain significance c.944C>G p.(Ser315Cys) in COG5; OMIM # 6136122
  5. dThe variant is listed in the Euroglycanet network database (http://www.euroglycanet.org)
  6. Each row represents a single family. Information on ethnicity and origin is as complete as it was possible to extract from published studies. Mutation description follows Human Genome Variation Society guidelines and NM_005787.6 was taken as the reference sequence. Allele frequency was mined from gnomAD v2.1.1
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BMC Ophthalmology

ISSN: 1471-2415

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