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Table 2 Mutations in ALMS1 gene in study participants

From: Prospective cardiovascular magnetic resonance imaging in adults with Alström syndrome: silent progression of diffuse interstitial fibrosis

Mutation 1

Exome 1

Allele 1 nucleotide change

Allele_1 amino acid change

Homo/ Hetero/CH

Mutation 2

Exome 2

Allele 2 nucleotide change

Allele_2 amino acid change

Nonsense

8

c.2041C > T

p.Arg681*X

Homo

?Nonsense

8

c.2041C > T

p.Arg681*

Nonsense

8

c.6823C > T

p.Arg2275*

CH

Nonsense

10

c.9535C > T

p.Arg3179*

Nonsense

8

c.2822 T > A

p.Leu941*

CH

Frameshift

16

c.10775delC

p.Thr3592Lysfs*6

Frameshift

8

c.6584delA

p.Lys2195Serf*10

CH

Nonsense

5

c.1008_1009delTG

p.Cys336fs*1

Nonsense

10

c.8002C > T

p.Arg2668*

CH

Nonsense

16

c.10879C > T

pArg3627*

Nonsense

10

c.9001C > T

p.Gln3001*

Hetero

    

Frameshift

8

c.6895delG

p.val2299Trps*43

CH

Frameshift

16

c.11443C > T

p.Gln3815*

Nonsense

16

11107C > T

p.Arg3703*

Hetero

    

Nonsense

16

11107C > T

p.Arg3703*

Homo

Nonsense

16

11107C > T

p.Arg3703*

Frameshift

16

c.10579_1580delAT

p.Met3527Valfs*13

CH

Frameshift

18

c.11856delC

p.Asn3952Lysfs*41

Frameshift

16

c.10769delC

p.Thr3590Lysfs*6

CH

Missense

8

c.5356A > G

p.Asn1786Asp

Nonsense

16

c.11107C > T

p.Arg3703*

Hetero

    

Nonsense

8

c.6823C > T

p.Arg2275*

CH

Nonsense

10

c.9535C > T

p.Arg3179*

Frameshift

8

c.1729delA

p.Arg577Glyfs*17

CH

Nonsense

16

c.10477C > T

p.Gln3493*

 

8

c6526C > T

p.Gln217*

Hetero

    

Nonsense

10

c.8932C > T

p.Gln2978*

CH

Missense

8

c.5356A > G

p.Asn1786Asp

Nonsense

8

c.4937C > A

p.Ser1646*

Homo

Nonsense

8

c.4937C > A

p.Ser1646*

Nonsense

8

c.4937C > A

p.Ser1646*

Homo

Nonsense

8

c.4937C > A

p.Ser1646*

 

9

c.7544-

 

Homo

Exon

9

c.7544-

 

Deletion

200_7677 + 1110del

deletion

200_7677 + 1110del

Nonsense

8

c.4937C > A

p.Ser2646*

Hetero

Nonsense

8

c.6526C > T

p.Gln2176*

Nonsense

8

c.6299C > A

p.Ser2100*

CH

Nonsense

16

c.10477C > T

p.GIn3493*

Nonsense

8

c.6299C > A

p.Ser2100*

CH

Nonsense

16

c.10477C > T

p.GIn3493*

Frameshift

16

c.10769delC

p.Thr3590Lysfs*6

CH

Missense

16

c.11410C > T

p.Arg38404*

Exon

9

c.7544-

 

Homo

Exon

9

c.7544-

 

deletion

200_7677 + 1110del

deletion

200_7677 + 1110del

Nonsense

8

c.2041C > T

p.Arg681*

Homo

Nonsense

8

c.2041C > T

p.Arg681*

Nonsense

8

c.2041C > T

p.Arg681*

Homo

?Nonsense

8

c.2041C > T

p.Arg681*

Exon deletion

9

c.7544-

 

Homo

Exon deletion

9

c.7544- 200_7677 + 1110del

 

Nonsense

16

200_7677 + 1110del

p.Gln3495*

CH

Frameshift

16

c.10775delC

p.Thr3592Lysfs*6

Nonsense

16

11107C > T

p.Arg3703*

Hetero

    

Frameshift

10

c.7911dupC

p.Asn2638Glnfs*24

Homo

Frameshift

10

c.7911dupC

p.Asn2638Glnfs*24

  1. CH indicates compound heterozygote, Hetero, Heterozygote; Homo, homozygote
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Orphanet Journal of Rare Diseases

ISSN: 1750-1172