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Table 1 Pathogenic sequence variants identified in Czech probands with ichthyosis

From: Inherited ichthyoses: molecular causes of the disease in Czech patients

No. Gene 1st allele (cDNA level, protein level) 2nd allele (cDNA level, protein level)
1 ALOX12B c.467_470dupATGT, p.(His158Cysfs*20) c.1562A > G, p.(Tyr521Cys)
2 ALOX12B c.581A > T, p.(Lys194*) c.1562A > G, p.(Tyr521Cys)
3 ALOX12B c.665A > T, p.(Lys222Ile) c.1562A > G, p.(Tyr521Cys)
4 ALOX12B c.787_789delTTC, p.(Phe262del) c.1562A > G, p.(Tyr521Cys)
5 ALOX12B c.1034-1035delTT, p.(Phe345Trpfs*28) c.1790C > A, p.(Ala597Glu)
6 ALOX12B 1071G > C, p.(Gln357His) c.1654 + 3A > G, r.(spl?)
7 ALOX12B c.1156C > T, p.(Arg386Cys) c.1654 + 3A > G,  r.(spl?)
8 ALOX12B c.1156C > T, p.(Arg386Cys) c.1790C > A, p.(Ala597Glu)
9 ALOX12B c.1157G > A, p.(Arg386His) c.1265C > T, p.(Pro422Leu)
10 ALOX12B c.1157G > A, p.(Arg386His) c.1562A > G, p.(Tyr521Cys)
11 ALOX12B c.1294C > T, p.(Arg432*) c.1562A > G, p.(Tyr521Cys)
12 ALOX12B c.1405C > T, p.(Arg469Trp) c.1454_1455delTT, p.(Phe485Cysfs*16)
13 ALOX12B c.1448A > G, p.(Asn483Ser) c.1562A > G, p.(Tyr521Cys)
14 ALOX12B c.1496G > A, p.(Arg499His) c.1496G > A, p.(Arg499His)
15 ALOX12B c.1562A > G, p.(Tyr521Cys) c.1688 T > C, p.(Leu563Pro)
16 ALOX12B c.1562A > G, p.(Tyr521Cys) c.1790C > A, p.(Ala597Glu)
17 ALOX12B c.1562A > G, p.(Tyr521Cys) c.1790C > A, p.(Ala597Glu)
18 ALOX12B c.1918delG, p.(Asp640Thrfs*23) c.1918delG, p.(Asp640Thrfs*23)
19 ALOXE3 c.36_39delACCT, p.(Tyr13*) c.700C > T, p.(Arg234*)
20 ALOXE3 c.700C > T, p.(Arg234*) c.700C > T, p.(Arg234*)
21 ALOXE3 c.700C > T, p.(Arg234*) c.700C > T, p.(Arg234*)
22 ALOXE3 c.700C > T, p.(Arg234*) c.700C > T, p.(Arg234*)
23 ALOXE3 c.700C > T, p.(Arg234*) c.1889C > T, p.(Pro630Leu)
24 ALOXE3 c.700C > T, p.(Arg234*) c.1889C > T, p.(Pro630Leu)
25 ALOXE3 c.1392 + 2 T > A,  r.spl? c.1889C > T, p.(Pro630Leu)
26 ALOXE3 c.1889C > T, p.(Pro630Leu) c.2097C > T, p.(Tyr699*)
27 ALOXE3 c.1889C > T, p.(Pro630Leu) gross deletion
28 NIPAL4 c.527C > A, p.(Ala176Asp) c.527C > A, p.(Ala176Asp)
29 NIPAL4 c.527C > A, p.(Ala176Asp) c.527C > A, p.(Ala176Asp)
30 NIPAL4 c.527C > A, p.(Ala176Asp) c.1010_1015dupTCAGCA, p.(Ser338_Thr339insIleSer)
31 NIPAL4 c.527C > A, p.(Ala176Asp) c.1193dupT, p.(Val401Argfs*36)
32 NIPAL4 c.1063delC, p.(Leu355Trpfs*93) c.1063delC, p.(Leu355Trpfs*93)
33 NIPAL4 c.1112C > G, p.(Ser371Leu) c.1112C > G, p.(Ser371Leu)
34 CYP4F22 c.1A > G, (p. Met1?) c.59dupG, p.(Ile21Hisfs*59)
35 CYP4F22 c.59dupG, p.(Ile21Hisfs*59) c.59dupG, p.(Ile21Hisfs*59)
36 CYP4F22 c.59dupG, p.(Ile21Hisfs*59) c.59dupG, p.(Ile21Hisfs*59)
37 CYP4F22 c.844C > T, p.(Arg282Trp) c.1085G > A, p.(Arg362Gln)
38 CYP4F22 c.1085G > A, p.(Arg362Gln) c.1085G > A, p.(Arg362Gln)
39 TGM1 c.376C > T, p.(Arg126Cys) c.919C > T, p.(Arg307Trp)
40 TGM1 c.377G > A, p.(Arg126His) c.377G > A, p.(Arg126His)
41 TGM1 c.425G > A, p.(Arg142His) c.1184C > T p.(Thr395Ile)
42 TGM1 c.425G > A, p.(Arg142His) c.2000 T > G, p.(Leu667Arg)
43 TGM1 c.968G > A, p.(Arg323Gln) c.1135G > C, p.(Val379Leu)
44 TGM1 c.1310 T > G, p.(Val437Gly) c.2307C > G, p.(Ser769Arg)
45 ABCA12 c.69G > A, p.(Pro23=), r.(spl?) c.5641C > T, p.(Arg1881*)
46 ABCA12 c.483_484delCGinsT, p.(Ala162Hisfs*10) c.4977G > A, p.(Glu1659=), r.(spl?)
47 ABCA12 c.2634C > G, p.(Phe878Leu) c.4139A > G, p.(Asn1380Ser)
48 KRT1 c.532 T > C, p.(Ser178Pro)a
49 KRT1 c.593C > T, p.(Val198Gly) b
50 KRT1 c.1016delT, p.(Met339Argfs*23)
51 KRT10 c.467G > A, p.(Arg156His)b
52 KRT10 c.467G > A, p.(Arg156His)b
53 KRT10 c.1373 + 1G > C, r.spl?
54 KRT10 c.1374-1G > C, r.spl?
55 KRT2 c.1435A > C, p.(Thr479Pro)c
56 KRT2 c.1459G > A, p.(Glu487Lys)c
57 STS c.1330C > T, p.(His444Tyr)
58 STS c.1338C > G, p.(Cys446Trp)
59 SPINK5 c.81 + 1G > A, r.spl? c.1431-12G > A, r.(spl?)
  1. Variants in bold letters were detected only in Czech patients (31 patients were mentioned in our previous study [2]). Genes, reference sequences: ALOX12B, NM_001139.2; ALOXE3, NM_021628.2; CYP4F22, NM_173483.3; NIPAL4, NM_001099287.1; TGM1, NM_000359.2; ABCA12, NM_173076.2; KRT1, NM_006121.3; KRT10, NM_000421.3; KRT2, NM_000423.2; STS, NM_000351.5; SPINK5, NM_006846.3. The localisation of variants in a keratin molecule: athe head domain, subdomain H1; bthe central rod domain, subdomain 1A, helix initiating motive; cthe central rod domain, subdomain 2A, helix terminating motif (www.interfil.org)