Tabel Null mutaties

 

In de Tabel hieronder vindt u de tot nu toe bekende Null mutaties:

Variant Plaats Mutatie 
Bellingham M1Val213 Lys217-stop codon
Bredevoort M1Val213 C548G premature stopcodon 160
*Brescia M1Ala213 E257-stop codon
*Cork M1Val213 CA deletion codon 180-premature stop codon
*Cosenza M2 Q305-stop codon
Bolton M1Val213 Pro362-C deletion + stop codon 373
Clayton M1Val213 Pro 362-C insertion + stop codon 376
Cairo M1Ala213 Lys259-stop codon
*Dublin M1Val213 T deletion 370-stop codon 373
Granite falls M1Val213 Tyr160-C deletion + stop codon 160
Hong kong M2 Leu318-TC deletion + stop codon 334
Isola di procida Unknown 10kb deletion
Kowloon M1Val213 Tyr38-stop codon
*Lampedusa M2 G deletion codon 337-stop codon 338
Lisbon M1Val213 Thr68-Ile
Ludwigshafen M2 Ile92-Asn
Mattawa M1Val213 Leu353-T insertion + stop codon 376
Madrid M2 exon 1C splice site donor T duplication (+2T)
Milano M1Val213 17 nucleotide deletion exon 111
New hope M1Val213 Gly320-Glu + Glu342-Lys
*Perugia M1Val213 G deletion codon 239-stop codon 241
*Pordenone M1Val213 T deletion codon 327-stop codon 338
ZNewport M1Ala213 Gly115-Ser +Glu342-Lys
Reidenberg Unknown Deletion of exons II-V
Saarbruecken M1Ala213 Pro362-C insertion + stop codon 376
*Torino M1 Val213 M1 Val213
West M1Val213 M1Val213
*Identified in a single study