Table 2

 PEX1 sequence variants in patients with Zellweger spectrum

MutationcDNA level, protein levelExonPhenotypeOriginReferences
mRNA sequence: NM_000466 (version: NM_000466.1); source sequence: AF026086 (version: AF026086.1); product: NP_000457 (version: NP_000457.1).
IRD, infantile Refsum disease; NALD, neonatal adrenoleucodystrophy; ZS, Zellweger syndrome; ZSS, Zellweger syndrome spectrum.
Splice site mutations
c.1670+5G→Tc.1670+5G→T, ?Intron 9, splice donorClassical ZSDutch25
c.2071+1G→Tc.2071+1G→T, ?Intron 12, splice donorIRDDutch25
c.2926+1G→Ac.2926+1G→A, ?Intron 18, splice donorZSS?5, 6, 32, 33, 35
c.2926+2T→Cc.2926+2T→C, ?Intron 18, splice donorClassical ZSDutch6, 25
c.3207+1G→Cc.3207+1G→C, ?Intron 20, splice donorNALD?6, 32
Insertions and deletions
c.434_448delTTTGGGTTGATCAACinsGCAAc.434_448delTTTGGGTTGATCAACinsGCAA, V145GfsX244Classical ZSDutch25
c.788_789delCAc.788_789delCA, T263IfsX65Classical ZSDutch25
c.904delGc.904delG, A302QfsX235?Australasian patient31
c.911_912delCTc.911_912delCT, S304CfsX45Classical ZSItalianThis study
c.1865_1866insGAGTGTGGAc.1865_1866insGAGTGTGGA, A622_H623insSVC11NALD?This study; 26
c.1900_2070del171c.1900_2070del171, G634_H690del5712ZS?24, 29
c.2083_2085delATGc.2083_2085delATG, M695del13Classical ZSTurkishThis study
c.2085_2089delGATAAc.2085_2089delGATAA, M695IfsX4513ZSS?33
c.2097_2098insTc.2097_2098insT, I700YfsX4213ZS, classical ZS, IRD, NALD, non-classical ZS, ZSSAustralasian, Dutch, German, ?This study; 5, 6, 25, 26, 30–33, 36
c.2227_2416del190bpc.2227_2416del190bp, ?14ZS, NALD?This study; 26
c.2537_2545delATGAAGTTAinsTCATGGTc.2537_2545delATGAAGTTAinsTCATGGT, H846LfsX5215ZSS?33
c.2730delAc.2730delA, L910FfsX5117Classical ZSDutch25
c.2814_2818delCTTTGc.2814_2818delCTTTG, F938LfsX218ZS?This study; 26
c.2916delAc.2916delA, G973AfsX1618?Australasian, ?30, 31, 33
c.3180_3181insTc.3180_3181insT, G1061WfsX1620ZS?6, 32
c.3691_3694delCAGTc.3691_3694delCAGT, Q1231HfsX323Classical ZSTurkishThis study
Nonsense mutations
c.781C→Tc.781C→T, Q261X5ZS?29
c.1897C→Tc.1897C→T, R633X11NALD?29
c.2368C→Tc.2368C→T, R790X14?Australasian30, 31
c.2383C→Tc.2383C→T, R795X14ZS?6, 32
c.2614C→Tc.2614C→T, R872X16ZS, NALDGerman, ?This study; 26
c.2992C→Tc.2992C→T, R998X19?Australasian31
c.3287C→Gc.3287C→G, S1096X21NALDGermanThis study
c.3378C→Gc.3378C→G, Y1126X21ZS?This study; 26
Missense mutations
c.274G→Cc.274G→C, V92L3Non-classical ZSTurkishThis study
c.1777G→Ac.1777G→A, G593R10IRDDutch25
c.1991T→Cc.1991T→C, L664P12ZS?24, 29
c.2008C→Ac.2008C→A, L670M12Classical ZSDutch25
c.2387T→Cc.2387T→C, L796P14Classical ZSItalianThis study
c.2392C→Gc.2392C→G, R798G14Australasian30, 31
c.2528G→Ac.2528G→A, G843D15ZSS, ZS, Classical ZS, NALDAustralasian, Dutch, German, ?This study; 5, 6, 25, 26, 28–33, 37
c.2846G→Ac. 2846G→A, R949Q18Classical ZSDutch25
c.3038G→Ac.3038G→A, R1013H20NALDGermanThis study
c.3850T→Cc.3850T→C, X1284Q24NALDDutch25
Duplications
c.1952_1960dupCAGTGTGGAc.1952_1960dupCAGTGTGGA,W653_M654insTVW125, 6, 32