Investigating Inherited Diseases - I

A) Translating a DNA sequence

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

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

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

>Normal
MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRF
FESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKG
TFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPV
QAAYQKVVAGVANALAHKYH

>Mutant1
MVHLTPVEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRF
FESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKG
TFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPV
QAAYQKVVAGVANALAHKYH

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