Investigating Inherited Diseases - I

A) Translating a DNA sequence

>CDS of human beta globin
atggtgcacctgactcctgaggagaagtctgccgttactgccctgtggggcaaggtgaac
gtggatgaagttggtggtgaggccctgggcaggttgctggtggtctacccttggacccag
aggttctttgagtcctttggggatctgtccactcctgatgctgttatgggcaaccctaag
gtgaaggctcatggcaagaaagtgctcggtgcctttagtgatggcctggctcacctggac
aacctcaagggcacctttgccacactgagtgagctgcactgtgacaagctgcacgtggat
cctgagaacttcaggctcctgggcaacgtgctggtctgtgtgctggcccatcactttggc
aaagaattcaccccaccagtgcaggctgcctatcagaaagtggtggctggtgtggctaat
gccctggcccacaagtatcactaa

B) Looking at the effects of mutations (Part One)
Mutation: Sickle Cell Anemia

>CDS human beta globin mutant 1
atggtgcacctgactcctgtggagaagtctgccgttactgccctgtggggcaaggtgaac
gtggatgaagttggtggtgaggccctgggcaggttgctggtggtctacccttggacccag
aggttctttgagtcctttggggatctgtccactcctgatgctgttatgggcaaccctaag
gtgaaggctcatggcaagaaagtgctcggtgcctttagtgatggcctggctcacctggac
aacctcaagggcacctttgccacactgagtgagctgcactgtgacaagctgcacgtggat
cctgagaacttcaggctcctgggcaacgtgctggtctgtgtgctggcccatcactttggc
aaagaattcaccccaccagtgcaggctgcctatcagaaagtggtggctggtgtggctaat
gccctggcccacaagtatcactaa

C) Looking at the effects of mutations (Part Two)
Mutation: Beta Thalassemia

>CDS of human beta globin mutant 2
atggtgcacctgactcctgggagaagtctgccgttactgccctgtggggcaaggtgaac
gtggatgaagttggtggtgaggccctgggcaggttgctggtggtctacccttggacccag
aggttctttgagtcctttggggatctgtccactcctgatgctgttatgggcaaccctaag
gtgaaggctcatggcaagaaagtgctcggtgcctttagtgatggcctggctcacctggac
aacctcaagggcacctttgccacactgagtgagctgcactgtgacaagctgcacgtggat
cctgagaacttcaggctcctgggcaacgtgctggtctgtgtgctggcccatcactttggc
aaagaattcaccccaccagtgcaggctgcctatcagaaagtggtggctggtgtggctaat
gccctggcccacaagtatcactaa

>Normal
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLS
TPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVD
PENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

>Mutant1
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLS
TPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVD
PENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

>Mutant2
MVHLTPGRSLPLLPCGAR 

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