TABLE 1.
109 Novel ALMS1 Mutations
| cDNA Variant | Predicted protein | #Exon | Total affected allelesa | Ethnicity/Regional origin |
|---|---|---|---|---|
| c.454-5T>G | intron 2 | 1 | Oceania | |
| c.592C>T | p.Gln198* | 3 | 1 | N America |
| c.906del | p.Ile302Metfs*30 | 5 | 2 | N Africa |
| c.967G>T | p.Glu323* | 5 | 1 | N America |
| c.1054C>T | p.Arg352* | 5 | 1 | N America |
| c.1613_1614delTC | p.Leu538Glnfs*12 | 8 | 1 | N America |
| c.1628T>A | p.Leu543* | 8 | 1 | N America |
| c.1645delA | p.Thr549Leufs*5 | 8 | 1 | Caribbean |
| c.1674delT | p.559Leufs*37 | 8 | 2 | E Europe |
| c.1897dupT | p.Tyr633Leufs*9 | 8 | 1 | W Europe |
| c.1903C>T | p.Gln635* | 8 | 1 | N America |
| c.2159delG | p.Arg720Lysfs*60 | 8 | 1 | S Europe |
| c.2234C>G | p.Ser745* | 8 | 1 | N America |
| c.2265dupT | p.Glu756* | 8 | 4 | W Asia |
| c.2646dupT | p.Glu883* | 8 | 1 | N America |
| c.2676delT | p.Gly893Aspfs*41 | 8 | 1 | S Europe |
| c.2708C>G | p.Ser903* | 8 | 1 | Oceania |
| c.2778dupT | p.Leu927Serfs*4 | 8 | 1 | E Asia |
| c.2822T>A | p.Leu941* | 8 | 3 | W Europe |
| c.2930_2933dupGAGA | p.Ser979Argfs*13 | 8 | 1 | W Europe |
| c.2967_2970delTGAC | p.Asp990Argfs*38 | 8 | 2 | W Europe |
| c.3019delA | p.Arg1007Glufs*22 | 8 | 1 | N America |
| c.3019dupA | p.Arg1007Lysfs*15 | 8 | 1 | Oceania |
| c.3020delG | p.Arg1007Lysfs*22 | 8 | 1 | S Europe |
| c.3066T>A | p.Tyr1022* | 8 | 2 | N Africa |
| c.3153C>A | p.Tyr1051* | 8 | 1 | S America |
| c.3220_3221delAG | p.Leu1075Glufs*10 | 8 | 1 | E Asia |
| c.3300_3301delAA | p.Lys1103Alafs*16 | 8 | 2 | SE Europe |
| c.3472C>T | p.Gln1158* | 8 | 2 | W Asia |
| c.3518C>G | p.Ser1173* | 8 | 1 | E Asia |
| c.3579C>G | p.Tyr1193* | 8 | 2 | N America |
| c.3583C>T | p.Gln1195* | 8 | 2 | S Asia |
| c.3754C>T | p.Gln1252* | 8 | 1 | Oceania |
| c.3876_3877dupGAAG | p.Lys1293Glufs*13 | 8 | 1 | W Europe |
| c.4039C>T | p.Gln1347* | 8 | 1 | N America |
| c.4145_4146delACTC | p.Tyr1382Phefs*18 | 8 | 1 | E Asia |
| c.4154A>G | p.Ser1383* | 8 | 1 | N Europe |
| c.4180C>T | p.Gln1394* | 8 | 2 | N America |
| c.4205dupT | p.Thr1403Asnfs*2 | 8 | 2 | S Asia |
| c.4213G>T | p.Glu1405* | 8 | 2 | N America |
| c.4274T>A | p.Leu1425* | 8 | 1 | W Europe |
| c.4281_4282dupA | p.Thr1428Asnfs*11 | 8 | 1 | N America |
| c.4363G>T | p.Glu1455* | 8 | 1 | E Asia |
| c.4477G>T | p.Glu1493* | 8 | 1 | S Europe |
| c.4605C>G | Tyr1535* | 8 | 1 | E Asia |
| c.4657delT | p.Ser1553Leufs*15 | 8 | 1 | E Asia |
| c.4718C>G | p.Ser1573* | 8 | 1 | Oceania |
| c.4746C>A | p.Tyr1582* | 8 | 2 | E Asia |
| c.4823delA | p.Lys1608Argfs*9 | 8 | 1 | N America |
| c.4823dupA | p.Thr1609Aspfs*2 | 8 | 1 | W Europe |
| c.4891C>T | p.Gln1631* | 8 | 2 | W Europe N Africa |
| c.4917_4920delTAAA | p.Asn1639Lysfs*4 | 8 | 2 | N America E Asia |
| c.5054_5060delTACCTGA | p.Leu1685* | 8 | 1 | W Europe |
| c.5135T>G | p.Leu1712* | 8 | 2 | S Europe |
| c.5277delC | p.Tyr1760Ilefs*20 | 8 | 1 | N America |
| c.5455C>T | p.Arg1819* | 8 | 2 | SE Europe |
| c.5573_5574del | p. Ser1858Cysfs*5 | 8 | 1 | Oceania |
| c.5575_5576delGT | p.Val1859Hisfs*4 | 8 | 1 | W Asia |
| c.5929C>T | p.Gln1977* | 8 | 1 | N Africa |
| c.6116_6117delTC | p.Pro2040Ilefs*7 | 8 | 3 | SE Europe E Asia |
| c.6169_6170dupAT | p.Leu2058Phefs*17 | 8 | 1 | E Asia |
| c.6288T>A | p.Tyr2096* | 8 | 2 | SE Europe |
| c.6361A>T | p.Lys2121* | 8 | 2 | S Asia |
| c.6421_6427del | p.Ser2141Phefs*20 | 8 | 1 | E Asia |
| c.6486_6489delAACT | p.Thr2163Argfs*4 | 8 | 2 | SE Europe |
| c.6625_6626delA | p.Asn2209Ilefs*2 | 8 | 2 | S America |
| c.6895delG | p.Val2299Trpfs*43 | 8 | 1 | N Europe |
| c.7188_7192delTAGTG | p.Cys2396Trpfs*6 | 8 | 2 | S America |
| c.7376_7379delATAG | p.Asp2459Alafs*18 | 8 | 2 | W Europe |
| c.7378G>T | p.Glu2460* | 8 | 1 | W Europe |
| c.7571_7572delAT | p.His2524Argfs*11 | 9 | 1 | S Europe |
| c.7577_7590delGTGGATACTCCATT | p.Cys2526Phefs*5 | 9 | 2 | W Asia |
| c.7677G>C | p.Lys2559Asn | 9 | 2 | W Europe |
| c.7677+1G>T | p.? | 9 | 1 | SE Europe |
| 5.7kb deletionb | intron 9 | 2 | W Asia | |
| c.7772dupT | p.Thr2592Asnfs*3 | 10 | 1 | N America |
| c.7911dupC | p.Asn2638Glnfs*24 | 10 | 2 | W Asia |
| c.8150_8151insT | p.Ser2719Phefs*7 | 10 | 2 | W Asia |
| c.8352_8355delAGAA | p.Glu2785* | 10 | 1 | N America |
| c.8579C>A | p.Ser2860* | 10 | 2 | N America |
| c.8766C>A | p.Cys2922* | 10 | 2 | Caribbean |
| c.8995A>T | p.Gln2999* | 10 | 1 | N Europe |
| c.9379C>T | p.Gln3127* | 10 | 1 | S Europe |
| c.9517G>T | p.Glu3173* | 10 | 2 | SE Asia |
| c.9801T>A | p.Tyr3267* | 12 | 1 | W Europe |
| deletion of exon 13-16 | 1 | W Asia | ||
| c.10124C>G | p.Ser3375* | 14 | 2 | N Africa |
| c.10265delC | p.Pro3422Glnfs*2 | 15 | 1 | W Europe |
| c.10388-2A>G | intron 15 | 2 | W Asia | |
| c.10483delC | p.Gln3495Lysfs*14 | 16 | 1 | N America |
| c.10535G>A | p.Trp3512* | 16 | 1 | N America |
| c.10561_10564delGACA | p.Asp3521Asnfs*25 | 16 | 2 | S Europe |
| c.10609_10614delinsTCAAA | p.Asp3537Serfs*10 | 16 | 1 | W Europe |
| c.10757dupA | p.Val3587Glyfs*15 | 16 | 1 | W Europe |
| c.10828C>T | p.Gln3610* | 16 | 1 | W Europe |
| c.10830_10831insC | p.Arg3611Glnfs*7 | 16 | 1 | S Europe |
| c.10898dupT | p.Leu3633Phefs*2 | 16 | 2 | N Europe |
| c.10939_10945del | p.Val3647Lysfs*13 | 16 | 1 | N Europe |
| deletion of exon 17 | 17 | 1 | N America | |
| c.11618_11619delCT | p.Ser3873Tyrfs*19 | 17 | 3 | N America S Europe |
| c.11651_11652insGTTA | p.Asn3885Leufs*9 | 17 | 3 | N America |
| c.11654_11657del | p.Asn3885Argfs*11 | 17 | 1 | W Europe |
| c.11703delA | p.Lys3901Asnfs*8 | 18 | 1 | S Europe |
| c.11812dupA | p.Met3938Asnfs*8 | 18 | 1 | SE Europe |
| c.11881dupT | p.Ser3961Phefs*12 | 19 | 1 | W Europe |
| c.12004G>T | p.Glu4002* | 19 | 1 | N America |
| c.12116_12117insT | p.Gln4039Serfs*10 | 19 | 1 | N America |
| c.12365G>A | p.Arg4122Gln | 21 | 1 | N America |
Mutation nomenclature refers to GenBank reference sequence NM_015120.4; AC074008.5 for ALMS1. Nucleotide and amino acid numbering of mutation sites began at the start codon, ATG (Met) of the open reading frame, originally described by Collin et al. [2002] and Hearn et al. [2002]. Ethnicity/Regional origin was designated according to the United Nations Composition of macro geographical (continental) regions, geographical sub-regions, and selected economic and other groupings, http://millenniumindicators.un.org/unsd/methods/m49/m49regin.htm.
a
Total number of alleles including this cohort and previous reports.
b
Approximate genomic locations 73715902 in intron 9 to 73721624 in intron 10