Wat zijn Null mutaties?

 

Variant Plaats Mutatie
Amersfoort                   Tyr160→stop codon
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
Soest M1 (Ala213) Thr102→delA, a TGA stop signal at codon 112