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 |