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Mutations in the Beta Globin Gene and their Effects

Mutations in the Beta Globin Gene and their Effects. Holda Anagho and Alexandra Coston. 1. The Central Dogma Beta Globin. Beta Globin.

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Mutations in the Beta Globin Gene and their Effects

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  1. Mutations in the Beta Globin Gene and their Effects Holda Anagho and Alexandra Coston 1

  2. The Central Dogma Beta Globin

  3. Beta Globin • Nucleotide Sequence (444 nt): ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAATranslation (147 aa): MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

  4. Beta Globin Reading Frame • 5'3' Frame 1Y I C F Stop H N C V H Stop Q P Q T D T Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L V S R L Q D R F K E T N R N W A C G D R E D S W V S D R H Stop L S L P I G L F S H P Stop A A G G L P L D P E V L Stop V L W G S V H S Stop C C Y G Q P Stop G E G S W Q E S A R C L StopStop W P G S P G Q P Q G H L C H T E Stop A A L Stop Q A A R G S Stop E L Q G E S Met G R L Met F S F P F F S Met V K F Met S Stop E G D K Stop Q G T V Stop N G K Q T N D C I S V E V S G S F Stop F L L F A V H N N C F L L F N S C F L F F S S P Q F L L L Y L Met P Stop H C V Stop Q K E I S L R Y I K Stop L K K K L Y T V C L V H Y Y L E Y Met C A Y L H I H N L P T L F S F I F N Stop Y I I I I H I Y G L K C N V L I C V H I L T K S G Stop F C I C N F K K C F L L L I Y F F V Y L I S N T F P N L F L S G Q StopStop Y N V S C L F A P F Stop R I T V I I S G L R Q Stop Q Y L C I Stop I F L H I N C N Stop C K R F H I A N S S Y N P A T I L L L F Y G W D K A G L F Stop V Q A R P F C Stop S C S Y L L S S S H S S W A T C W S V C W P I T L A K N S P H Q C R L P I R K W W L V W L Met P W P T S I T K L A F L L S N F Y Stop R F L C S L S P T T K L G D I Met K G L E H L D S A StopStop K T F I F I • 5'3' Frame 2T F A S D T T V F T S N L K Q T P W C I Stop L L R R S L P L L P C G A R Stop T W Met K L V V R P W A G W Y Q G Y K T G L R R P I E T G H V E T E K T L G F L I G T D S L C L L V Y F P T L R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L H V D P E N F R V S L W D A Stop C F L S P S F L W L S S C H R K G I S N R V Q F R Met G N R R Met I A S V W K S Q D R F S F F Y L L F I T I V F F C L I L A F F F F L L R N F Y Y Y T Stop C L N I V Y N K R K Y L Stop D T L S N L K K N F T Q S A Stop Y I T I W N I C V L I C I F I I S L L Y F L L F L I D T Stop S L Y I F Met G Stop S V Met F Stop Y V Y T Y Stop P N Q G N F A F V I L K N A F F F Stop Y T F L F I L F L I L S L I S F F Q G N N D T Met Y H A S L H H S K E Stop Q StopStop F L G Stop G N S N I S A Y K Y F C I Stop I V T D V R G F I L L I A A T I Q L P F C F Y F Met V G I R L D Y S E S K L G P F A N H V H T S Y L P P T A P G Q R A G L C A G P S L W Q R I H P T S A G C L S E S G G W C G Stop C P G P Q V S L S S L S C C P I S I K G S F V P Stop V Q L L N W G I L Stop R A L S I W I L P N K K H L F S L • 5'3' Frame 3H L L L T Q L C S L A T S N R H H G A S D S Stop G E V C R Y C P V G Q G E R G Stop S W W Stop G P G Q V G I K V T R Q V Stop G D Q Stop K L G Met W R Q R R L L G F StopStop A L T L S A Y W S I F P P L G C W W S T L G P R G S L S P L G I C P L L Met L L W A T L R Stop R L Met A R K C S V P L V Met A W L T W T T S R A P L P H Stop V S C T V T S C T W I L R T S G Stop V Y G T L D V F F P L L F Y G Stop V H V I G R G Stop V T G Y S L E W E T D E Stop L H Q C G S L R I V L V S F I C C S Stop Q L F S F V Stop F L L S F F F F S A I F T I I L N A L T L C I T K G N I S E I H Stop V T Stop K K T L H S L P S T L L F G I Y V C L F A Y S Stop S P Y F I F F Y F Stop L I H N H Y T Y L W V K V Stop C F N Met C T H I D Q I R V I L H L Stop F Stop K Met L S S F N I L F C L S Y F Stop Y F P Stop S L S F R A I Met I Q C I Met P L C T I L K N N S D N F W V K A I A I S L H I N I S A Y K L Stop L MetStop E V S Y C StopStop Q L Q S S Y H S A F I L W L G Stop G W I I L S P S Stop A L L L I Met F I P L I F L P Q L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop A R F L A V Q F L L K V P L F P K S N Y Stop T G G Y Y E G P Stop A S G F C L I K N I Y F H • 3'5' Frame 1Q Stop K StopMet F F I R Q N P D A Q G P S Stop Y P P V StopStop L D L G N K G T F N R N W T A R K R A StopStop Y L W A R A L A T P A T T F StopStop A A C T G G V N S L P K Stop W A S T Q T S T L P R S C G R K I R G Met N Met I S K R A Stop L G L R I I Q P Y P N H K I K A E W Stop L D C S C Y Stop Q Y E T S Y I S Y N L Y A E I F I C R D I A I A L T Q K L S L L F F R Met V Q R G Met I H C I I I A L K E R D Stop G K Y Stop K Stop D K Q K S I L K E E S I F Stop N Y K C K I T L I W S I C V H I L K H Y T L T H K Y V StopStop L C I N Stop K Stop K K I K Stop G D Y E Y A N K H T Y I P N S N V L G R L C K V F F Stop V T Stop C I S E I F P F V I H N V K A L S I I V K I A E K K K K E S K N Stop T K E N N C Y E Q Q I K E T K T I L R L P H Stop C N H S S V S H S K L Y P V T Y P L P Met T Stop T Stop P Stop K R R G K K T S S V P Stop T H P E V L R I H V Q L V T V Q L T Q C G K G A L E V V Q V S Q A I T K G T E H F L A Met S L H L R V A H N S I R S G Q I P K G L K E P L G P R V D H Q Q P K G G K I D Q Stop A E R V S A Y Q K P K S L L C L H Met P S F Y W S P Stop T C L V T L I P T C P G P H H Q L H P R S P C P T G Q Stop R Q T S P Q E S D A P W C L F E V A S E H S C V R S K C • 3'5' Frame 2N E N K C F L L G R I Q Met L K A L H N I P Q F S S W T Stop G T K E P L I E I G Q Q E S E L S D T C G P G H Stop P H Q P P L S D R Q P A L V G Stop I L C Q S D G P A H R P A R C P G A V G G R Stop E V Stop T Stop L A K G P S L D S E Stop S S L I P T I K Stop K Q N G S W I V A A I S N Met K P L T S V T I Y Met Q K Y L Y A E I L L L P Stop P R N Y H C Y S L E W C K E A Stop Y I V S L L P Stop K K E I R E S I R N K I N K K V Y Stop K K K A F F K I T N A K L P Stop F G Q Y V Y T Y Stop N I T L Stop P I N Met Y N D Y V S I K N K R K Stop S R E I Met N Met Q I S T H I F Q I V Met Y Stop A D C V K F F F K L L N V S Q R Y F L L L Y T Met L R H Stop V StopStopStop K L R R R K K K K A R I K Q K K T I V Met N S K Stop K K L K R S Stop D F H T D A I I R L F P I L N C T L L L I P F L Stop H E L N H R K E G E R K H Q A S H R L T L K F S G S T C S L S Q C S S L S V A K V P L R L S R Stop A R P S L K A P S T F L P Stop A F T L G L P I T A S G V D R S P K D S K N L W V Q G Stop T T S S L R V G K Stop T N R Q R E S V P I R N P R V F S V S T C P V S I G L L K P V L Stop P Stop Y Q P A Q G L T T N F I H V H L A P Q G S N G R L L L R S Q Met H H G V C L R L L V N T V V S E A N V • 3'5' Frame 3Met K I N V F Y Stop A E S R C S R P F I I S P S L V V G L R E Q R N L StopStop K L D S K K A S L V I L V G Q G I S H T S H H F L I G S L H W W G E F F A K V Met G Q H T D Q H V A Q E L W E E D K R Y E H D Stop Q K G L A W T Q N N P A L S Q P Stop N K S R Met V A G L Stop L L L A I Stop N L L H Q L Q F I C R N I Y Met Q R Y C Y C L N P E I I T V I L Stop N G A K R H D T L Y H Y C P E R K R L G K V L E I R Stop T K K Y I K R R K H F L K L Q Met Q N Y P D L V N Met C T H I K T L H F N P Stop I C I Met I Met Y Q L K I K E N K V G R L Stop I C K Stop A H I Y S K StopStop C T R Q T V Stop S F F L S Y L Met Y L R D I S F C Y T Q C Stop G I K Y N S K N C G E E K K R K Q E L N K R K Q L L Stop T A N K R N Stop N D P E T S T L Met Q S F V C F P F Stop T V P C Y L S P S Y D Met N L T I E K K G K E N I K R P I D S P Stop S S Q D P R A A C H S A A H S V W Q R C P Stop G C P G E P G H H Stop R H R A L S C H E P S P Stop G C P Stop Q H Q E W T D P Q R T Q R T S G S K G R P P A A Stop G W E N R P I G R E S Q C L S E T Q E S S L S P H A Q F L L V S L N L S C N L D T N L P R A S P P T S S T F T L P H R A V T A D F S S G V R C T Met V S V Stop G C StopStop T Q L C Q K Q Met

  5. Beta Globin Reading Frame (Cont’d.) • 5'3' Frame 1Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L H V D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop • 5'3' Frame 2W C I Stop L L R R S L P L L P C G A R Stop T W Met K L V V R P W A G C W W S T L G P R G S L S P L G I C P L L Met L L W A T L R Stop R L Met A R K C S V P L V Met A W L T W T T S R A P L P H Stop V S C T V T S C T W I L R T S G S W A T C W S V C W P I T L A K N S P H Q C R L P I R K W W L V W L Met P W P T S I T • 5'3' Frame 3G A S D S Stop G E V C R Y C P V G Q G E R G Stop S W W Stop G P G Q A A G G L P L D P E V L Stop V L W G S V H S Stop C C Y G Q P Stop G E G S W Q E S A R C L StopStop W P G S P G Q P Q G H L C H T E Stop A A L Stop Q A A R G S Stop E L Q A P G Q R A G L C A G P S L W Q R I H P T S A G C L S E S G G W C G Stop C P G P Q V S L • 3'5' Frame 1L V I L V G Q G I S H T S H H F L I G S L H W W G E F F A K V Met G Q H T D Q H V A Q E P E V L R I H V Q L V T V Q L T Q C G K G A L E V V Q V S Q A I T K G T E H F L A Met S L H L R V A H N S I R S G Q I P K G L K E P L G P R V D H Q Q P A Q G L T T N F I H V H L A P Q G S N G R L L L R S Q Met H H • 3'5' Frame 2StopStop Y L W A R A L A T P A T T F StopStop A A C T G G V N S L P K Stop W A S T Q T S T L P R S L K F S G S T C S L S Q C S S L S V A K V P L R L S R Stop A R P S L K A P S T F L P Stop A F T L G L P I T A S G V D R S P K D S K N L W V Q G Stop T T S S L P R A S P P T S S T F T L P H R A V T A D F S S G V R C T • 3'5' Frame 3S D T C G P G H Stop P H Q P P L S D R Q P A L V G Stop I L C Q S D G P A H R P A R C P G A Stop S S Q D P R A A C H S A A H S V W Q R C P Stop G C P G E P G H H Stop R H R A L S C H E P S P Stop G C P Stop Q H Q E W T D P Q R T Q R T S G S K G R P P A A C P G P H H Q L H P R S P C P T G Q Stop R Q T S P Q E S D A P

  6. Beta Globin Mutations • Hb Hammersmith • Hb Redondo • Hb Galicia • Hb Showa-Yakushiji • Hb Vercelli

  7. Hammersmith 6

  8. Hb Hammersmith Codon 43 7

  9. Hb Hammersmith Phenylalanine Serine 9

  10. Hammersmith • Wild Type ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA • Mutation ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTCTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA 10

  11. Hb Hammersmith • Wild Type Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L H V D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop • Mutation Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R FS E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L H V D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop 11

  12. More Hammersmith! 12

  13. Redondo 14

  14. Redondo! Codon 92 15

  15. Redondo Histidine Asparagine 17

  16. Redondo • ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA • ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGAACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA WT 18

  17. Redondo Protein Expression • Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L H V D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop • Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L NC D K L H V D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop WT 19

  18. Redondo 20

  19. Galicia 22

  20. GALICIA! - Codons 97 and 98 23

  21. Hb Galicia Histidine Valine AND DELETED!!! 25

  22. Hb Galicia Leucine ADDED!!!

  23. Galicia • ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA • ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGC TGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA WT 26

  24. Galicia Protein Expression • Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L H V D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop • Met V H L T P E E K S A V T A L W G K V N V D E V G G E A L G R L L V V Y P W T Q R F F E S F G D L S T P D A V Met G N P K V K A H G K K V L G A F S D G L A H L D N L K G T F A T L S E L H C D K L L D P E N F R L L G N V L V C V L A H H F G K E F T P P V Q A A Y Q K V V A G V A N A L A H K Y H Stop WT 27

  25. Galicia 28

  26. Hb Showa-Yakushiji 30

  27. Hb Showa-Yakushiji Codon 110 32

  28. Hb Showa-Yakushiji Proline Leucine 33

  29. Wild Type Hb • Nucleotide Sequence (444 nt): ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAATranslation (147 aa): MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

  30. Hb Showa-Yakushiji • Nucleotide Sequence (444 nt): ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCCGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAA • Translation (147 aa): MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVPVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

  31. Hb Showa-Yakushiji

  32. Hb Vercelli 38

  33. Hb Vercelli Codon 126 40

  34. Hb Vercelli DELETED!!! 41

  35. Wild Type Hb • Nucleotide Sequence (444 nt): ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAGTGCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAATranslation (147 aa): MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPVQAAYQKVVAGVANALAHKYH

  36. Hb Vercelli • ATGGTGCATCTGACTCCTGAGGAGAAGTCTGCCGTTACTGCCCTGTGGGGCAAGGTGAACGTGGATGAAGTTGGTGGTGAGGCCCTGGGCAGGCTGCTGGTGGTCTACCCTTGGACCCAGAGGTTCTTTGAGTCCTTTGGGGATCTGTCCACTCCTGATGCTGTTATGGGCAACCCTAAGGTGAAGGCTCATGGCAAGAAAGTGCTCGGTGCCTTTAGTGATGGCCTGGCTCACCTGGACAACCTCAAGGGCACCTTTGCCACACTGAGTGAGCTGCACTGTGACAAGCTGCACGTGGATCCTGAGAACTTCAGGCTCCTGGGCAACGTGCTGGTCTGTGTGCTGGCCCATCACTTTGGCAAAGAATTCACCCCACCAG GCAGGCTGCCTATCAGAAAGTGGTGGCTGGTGTGGCTAATGCCCTGGCCCACAAGTATCACTAATranslation (147 aa): MVHLTPEEKSAVTALWGKVNVDEVGGEALGRLLVVYPWTQRFFESFGDLSTPDAVMGNPKVKAHGKKVLGAFSDGLAHLDNLKGTFATLSELHCDKLHVDPENFRLLGNVLVCVLAHHFGKEFTPPGRLPIRKWWLVWMPWPTSITKLAPLLSNP(156)Y-COOH

  37. Hb Vercelli

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