Allèles HBB
A total of 20 different mutations were identified in 209 individuals (8.34%) in the coding
region of the HBB gene. The variants observed were classified as follows:
Missense mutations were the most frequently encountered, affecting 174 (83.2%) individuals, as shown in Table 1. All observed mutations were heterozygous and already had SNP IDs.
12 identifiés corrects. 4 (en gras) à vérifier.
(i) four synonymous mutations;
G/A His144His Synonymous Variant ??? CAC en 144 AAG en 145
C/G Val134Val Synonymous Variant
G/A Gly108Gly Synonymous Variant
G/T Leu82Leu Synonymous Variant
(ii) seven missense mutations;
G/A Ala130Val Missense
C/G Glu122Gln Missense
T/G Asn109His Missense??? AAC en 109 GTG en 110
C/T Glu27Lys Missense
G/A Pro6Ser Missense ??? GAG en 7
Glu7Val Missense HBS
Glu7Ala Missence HBE
(iii) four stop-gain mutations;
G/A Gln128 Stop ??? CAG en 128
T/A Lys18 Stop - Tha1
C/T Trp16 Stop - Tha3
G/A Gln40 Stop - Tha2
(iv) one frameshift mutation;
CAAAG/C Phe42fs Frameshift
(v) one splice region and missense variant;
C/A Arg31Ser Splice region and missense
(vi) one splice region and synonymous variant;
G/T Glu30Gly Splice region and synonymous variant ???
(vii) one splice acceptor and intron variant;
C/G # Splice acceptor and intron variant
and
(viii) one splice donor and intron variant.
C/T # Splice donor and intron variant