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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 1Exome 1Allele 1 nucleotide changeAllele_1 amino acid changeHomo/ Hetero/CHMutation 2Exome 2Allele 2 nucleotide changeAllele_2 amino acid change
Nonsense8c.2041C > Tp.Arg681*XHomo?Nonsense8c.2041C > Tp.Arg681*
Nonsense8c.6823C > Tp.Arg2275*CHNonsense10c.9535C > Tp.Arg3179*
Nonsense8c.2822 T > Ap.Leu941*CHFrameshift16c.10775delCp.Thr3592Lysfs*6
Frameshift8c.6584delAp.Lys2195Serf*10CHNonsense5c.1008_1009delTGp.Cys336fs*1
Nonsense10c.8002C > Tp.Arg2668*CHNonsense16c.10879C > TpArg3627*
Nonsense10c.9001C > Tp.Gln3001*Hetero    
Frameshift8c.6895delGp.val2299Trps*43CHFrameshift16c.11443C > Tp.Gln3815*
Nonsense1611107C > Tp.Arg3703*Hetero    
Nonsense1611107C > Tp.Arg3703*HomoNonsense1611107C > Tp.Arg3703*
Frameshift16c.10579_1580delATp.Met3527Valfs*13CHFrameshift18c.11856delCp.Asn3952Lysfs*41
Frameshift16c.10769delCp.Thr3590Lysfs*6CHMissense8c.5356A > Gp.Asn1786Asp
Nonsense16c.11107C > Tp.Arg3703*Hetero    
Nonsense8c.6823C > Tp.Arg2275*CHNonsense10c.9535C > Tp.Arg3179*
Frameshift8c.1729delAp.Arg577Glyfs*17CHNonsense16c.10477C > Tp.Gln3493*
 8c6526C > Tp.Gln217*Hetero    
Nonsense10c.8932C > Tp.Gln2978*CHMissense8c.5356A > Gp.Asn1786Asp
Nonsense8c.4937C > Ap.Ser1646*HomoNonsense8c.4937C > Ap.Ser1646*
Nonsense8c.4937C > Ap.Ser1646*HomoNonsense8c.4937C > Ap.Ser1646*
 9c.7544- HomoExon9c.7544- 
Deletion200_7677 + 1110deldeletion200_7677 + 1110del
Nonsense8c.4937C > Ap.Ser2646*HeteroNonsense8c.6526C > Tp.Gln2176*
Nonsense8c.6299C > Ap.Ser2100*CHNonsense16c.10477C > Tp.GIn3493*
Nonsense8c.6299C > Ap.Ser2100*CHNonsense16c.10477C > Tp.GIn3493*
Frameshift16c.10769delCp.Thr3590Lysfs*6CHMissense16c.11410C > Tp.Arg38404*
Exon9c.7544- HomoExon9c.7544- 
deletion200_7677 + 1110deldeletion200_7677 + 1110del
Nonsense8c.2041C > Tp.Arg681*HomoNonsense8c.2041C > Tp.Arg681*
Nonsense8c.2041C > Tp.Arg681*Homo?Nonsense8c.2041C > Tp.Arg681*
Exon deletion9c.7544- HomoExon deletion9c.7544- 200_7677 + 1110del 
Nonsense16200_7677 + 1110delp.Gln3495*CHFrameshift16c.10775delCp.Thr3592Lysfs*6
Nonsense1611107C > Tp.Arg3703*Hetero    
Frameshift10c.7911dupCp.Asn2638Glnfs*24HomoFrameshift10c.7911dupCp.Asn2638Glnfs*24
  1. CH indicates compound heterozygote, Hetero, Heterozygote; Homo, homozygote