HNMT Sequencing Reactions

1
HNMT Sequencing Reactions
Poly-T repeat sequence
-485
5flankingfor
Exon2
Exon5
Exon6
Exon4
Exon3
5flankingrev
Exon1
2
HNMT Polymorphisms
Frequency of
Nucleotide
Sequence Change
WT/WT
WT/Variant
Variant/Variant
Variant Allele
Location
-463 -430 -376 314 I4(49) I4(106) 594 939
T?C G?A T?C C?T A?G T?C T?C A?G
36 86 89 74 89 89 89 48
42 4 1 15 1 1 1 30
12 0 0 1 0 0 0 12
0.367 0.022 0.006 0.094 0.006 0.006 0.006 0.302
5 FR 5 FR 5 FR Exon 4 Intron 4 Intron 4 Exon
6 3 UTR
Non-Synonymous cSNP
3
HNMT Polymorphisms
Frequency of
Nucleotide
Sequence Change
Variant Allele
Location
Amino Acid Change
-463 -430 -376 314 I4(49) I4(106) 594 939
T?C G?A T?C C?T A?G T?C T?C A?G
0.367 0.022 0.006 0.094 0.006 0.006 0.006 0.302
5 FR 5 FR 5 FR Exon 4 Intron 4 Intron 4 Exon
6 3 UTR
Thr105Ile
Non-Synonymous cSNP
4
HNMT Polymorphisms
Novel
Known
Thr105Ile
Allele frequency lt1
Allele frequency 1-10
Allele frequency gt10
5
HNMT Haplotype Linkage Disequilibrium
D 0.626
939
-463
314
D 1.000
Positive
Negative
Allele Frequencies gt4 Chi-squared values gt 3.84
6
HNMT Exon 4 at Nucleotide 314
Wildtype
Heterozygous
HomozygousVariant