Download A + U, G + C

Document related concepts

Bisulfite sequencing wikipedia , lookup

Transformation (genetics) wikipedia , lookup

Protein wikipedia , lookup

Molecular cloning wikipedia , lookup

Protein–protein interaction wikipedia , lookup

Genetic engineering wikipedia , lookup

Metalloprotein wikipedia , lookup

DNA supercoil wikipedia , lookup

Community fingerprinting wikipedia , lookup

Silencer (genetics) wikipedia , lookup

Ancestral sequence reconstruction wikipedia , lookup

Non-coding DNA wikipedia , lookup

Gene wikipedia , lookup

Vectors in gene therapy wikipedia , lookup

Messenger RNA wikipedia , lookup

Gene expression wikipedia , lookup

Proteolysis wikipedia , lookup

Biochemistry wikipedia , lookup

Epitranscriptome wikipedia , lookup

Amino acid synthesis wikipedia , lookup

Two-hybrid screening wikipedia , lookup

Protein structure prediction wikipedia , lookup

Deoxyribozyme wikipedia , lookup

Molecular evolution wikipedia , lookup

Nucleic acid analogue wikipedia , lookup

Artificial gene synthesis wikipedia , lookup

Biosynthesis wikipedia , lookup

Genetic code wikipedia , lookup

Point mutation wikipedia , lookup

Transcript
6: DESIGNER GENES
How does
altering the
genetic code
of an
organism
affect the
environment
and society?
Write everything you know
about DNA and proteins.
DNA = deoxyribonucleic acid,
double helix, blueprint for cells
Present in all living things
DNA is inherited from parents
Proteins are made of amino
acids
DNA is usually in the nucleus
(bacteria don’t have a nucleus)
DNA codes for proteins
DRILL 1:
2.28 (A DAY)
3.1 (B DAY)
Outcome: I
can
determine
amino acid
sequence of
a protein
from the
structure of a
strand of
DNA.
CW 2: NOTES: PROTEIN SYNTHESIS
DNA
mRNA
Protein
Transcription
Translation
mRNA is
transcribed from
DNA code
mRNA, rRNA, & tRNA
work to make a protein
based on DNA code
CW 2: NOTES: PROTEIN SYNTHESIS
DNA Function
 Instructions for making & operating all living things
 Divided into genes; each gene directs making a protein
(which carries out a specific job in the cell/ organism)
 Stays in nucleus; instructions kept safe
CW 2: NOTES: PROTEIN SYNTHESIS
Sugar-Phosphate Backbone
Double Stranded
Base Pairs
Hydrogen Bonds
Sugar:
Deoxyribose
Phosphate
Bases:
Adenine
Thymine
Guanine
Cytosine
Nucleotide: sugar,
phosphate, base
CW 1: BUILDING DNA FROM SCRATCH
Work in groups; 1 DNA model per group
READ the instructions. There are also pictures… I
will not hold your hand to do this! 
Get your DNA codes from me; you have to figure
out the complementary strand
CW 2: NOTES: PROTEIN SYNTHESIS
RNA Function
 Involved in making proteins
 3 types of RNA are needed:
 mRNA copies the gene, leaves nucleus
 rRNA reads the code in the mRNA, three bases at a time
 tRNA transfers amino acids to the rRNA, where amino acids are
linked to make a protein
CW 2: NOTES: PROTEIN SYNTHESIS
Single Stranded
Phosphate
Sugar-Phosphate Backbone
Bases
Sugar:
Ribose
Bases:
Adenine
Uracil
Guanine
Cytosine
Nucleotide:
sugar,
phosphate,
base
CW 2: NOTES: PROTEIN SYNTHESIS
Phosphate
(PO4-3)
Base
DNA: RNA:
A
A
U
T
G
G
C
C
Sugar
Deoxyribose
Ribose
CW 2: NOTES: PROTEIN SYNTHESIS
1. RNA Polymerase
binds to & unwinds
DNA
2. RNA Polymerase
attaches nucleotides
complementary to
the DNA being copied
(A + U, G + C)
3. DNA strands rejoin
4. mRNA exits
nucleus
1
3
2
4
CW 2: NOTES: PROTEIN SYNTHESIS
8
7
5
6
5. mRNA attaches to ribosome (made of rRNA)
6. Ribosome “reads” mRNA
 Three bases at a time = codon
 Each mRNA codon matches to the anti-codon of tRNA
7. tRNA brings correct amino acid to ribosome
8. Chain of amino acids = protein
CW 2: NOTES: PROTEIN SYNTHESIS
AUG GUC AAC UCC UCG GAA AUC GGU GGA UAA
Met
Val
Asp
Ser
Ser Glu
Iso
Gly Gly Stop
DNA
mRNA
Protein
Transcription
Translation
Remember: in mRNA there is no T! Instead you have U!
Pedigree Mystery due on
Edmodo by 11:45 PM on
2.28
Finish CW 1 if not done
DRILL 1:
2.28 (A DAY)
3.1 (B DAY)
Outcome: I
can
determine
amino acid
sequence of
a protein
from the
structure of a
strand of
DNA.
A human cell experiences a
mutation in its DNA. What
is the most likely change as
a result of this event?
a. The cell will become part of
a different organ system.
b. The cell will no longer carry
genetic information.
c. The cell will produce a
different protein.
d. The cell will not reproduce.
DRILL 2:
3.2 (A DAY)
3.6 (B DAY)
Outcome:
Develop a
definition for
different
types of
mutations by
analyzing
DNA codes.
CW 3: DNA CODING: MUTANT MESSAGES
Complete CW 1 in your assigned groups.
mRNA
Codon
UUU
UUC
UUA
UUG
UCU
UCC
UCA
UAU
UAC
UAA
UAG
UGU
UGU
UGC
UGA
UGG
Amino Acid
Let.
Phenylalanine
Phenylalanine
Leucine
Leucine
Serine
Serine
Serine
Serine
Tyrosine
Tyrosine
STOP
STOP
Cysteine
Cysteine
STOP
Tryptophan
P
P
L
L
S
S
S
S
Y
Y
stop
stop
C
C
stop
W
mRNA
Codon
CUU
CUC
CUA
CUG
CCU
CCC
CCA
CCG
CAU
CAC
CAA
CAG
CGU
CGC
CGA
CGG
Amino
Acid
Leucine
Leucine
Leucine
Leucine
Proline
Proline
Proline
Proline
Histidine
Histidine
Glutamine
Glutamine
Arginine
Arginine
Arginine
Arginine
Let.
L
L
L
L
P
P
P
P
H
H
Q
Q
R
R
R
R
mRNA
Codon
AUU
AUC
AUA
AUG
ACU
ACC
ACA
ACG
AAU
AAC
AAA
AAG
AGU
AGC
AGA
AGG
Amino Acid Let.
Isoleucine
Isoleucine
Isoleucine
Methionine
Threonine
Threonine
Threonine
Threonine
Asparagine
Asparagine
Lysine
Lysine
Serine
Serine
Arginine
Arginine
I
I
I
M
T
T
T
T
N
N
K
K
S
S
R
R
mRNA
Codon
GUU
GUC
GUA
GUG
GCU
GCC
GCA
GCG
GAU
GAC
GAA
GAG
GGU
GGC
GGA
GGG
Amino
Acid
Valine
Valine
Valine
Valine
Alanine
Alanine
Alanine
Alanine
Aspartic Acid
Aspartic Acid
Glutamic Acid
Glutamic Acid
Glycine
Glycine
Glycine
Glycine
Let.
V
V
V
V
A
A
A
A
D
D
E
E
G
G
G
G
CW 3: DNA CODING: MUTANT MESSAGES
Sequence 1
DNA Sequence
mRNA Sequence
Amino Acid Sequence
(use letters)
AGA
UCU
S
ACG
UGC
C
TAT
AUA
I
mRNA Sequence
Amino Acid Sequence
(use letters)
AGA
UCU
S
ACG
UGC
C
mRNA Sequence
Amino Acid Sequence
(use letters)
ACG
UGC
C
CTT
GAA
E
TAC
AUG
M
TCT
AGA
R
TGA
ACU
T
CGC
GCG
A
TT
AA
-
Extra C: Insertion
Sequence 3
DNA Sequence
TTG
AAC
N
Missing T: Deletion
Sequence 2
DNA Sequence
CTC
GAG
E
AGA ACG
UCU UGC
S
C
TAT CTC TTG ACC GCT
AUA GAG AAC UGG CGA
I
E
N
W
R
T
A
-
CW 3: DNA CODING: MUTANT MESSAGES
Sequence 1
DNA Sequence
mRNA Sequence
Amino Acid Sequence
(use letters)
AGA
UCU
S
ACG
UGC
C
TAT
AUA
I
mRNA Sequence
Amino Acid Sequence
(use letters)
AGA
UCU
S
mRNA Sequence
Amino Acid Sequence
(use letters)
ACG
UGC
C
CTT
GAA
E
ACG
UGC
C
TAT
AUG
I
TTC
AGA
K
TTG
ACU
N
ACG
GCG
C
CTT
AA
E
TTA
AAU
N
ACG
UGC
C
CTT
GAA
E
Changed G to A: Substitution
Sequence 5
DNA Sequence
TTG
AAC
N
Changed C to T: Substitution
Sequence 4
DNA Sequence
CTC
GAG
E
AGA
UCU
S
ACG
UGC
C
TAT
AUA
I
CTC
GAG
E
CW 4: NOTES: MUTATIONS
How does the substitution of one nucleotide
affect the structure of the protein?
Silent: GGC
and GGU both
code for Gly;
so there are
no problems.
Lys
Phe
Gly
CW 4: NOTES: MUTATIONS
How does the substitution of one nucleotide
affect the structure of the protein?
Missense:
GGC codes
for Gly, but
AGC codes
for Ser. The
protein may
not function.
Lys
Phe
Ser
CW 4: NOTES: MUTATIONS
How does the substitution of one nucleotide
affect the structure of the protein?
Nonsense:
AAG codes for
Lys, but UAG
codes for
stop. Protein
is cut off too
soon, and will
not work.
Usually
happens near
beginning.
CW 4: NOTES: MUTATIONS
How does the insertion of deletion of a
nucleotide base pair affect the structure of the
protein?
Addition or
deletion of
an base
shifts the
reading
frame over.
Alters
triplets.
Met
Frameshift:
Codons are read
in sets of 3.
CW 4: NOTES: MUTATIONS
How does the insertion of deletion of a
nucleotide base pair affect the structure of the
protein?
Addition or
deletion of an
base shifts the
reading frame
over. Alters
triplets.
Met
Lys
Leu
Ala
CW 4: NOTES: MUTATIONS
How does the insertion of deletion of a
nucleotide base pair affect the structure of the
protein?
Sometimes a
whole codon is
removed or
added.
Met
Phe
Gly
CW 4: NOTES: MUTATIONS
Mutagens: Agents that interact with DNA,
causing mutations.
Physical:
 Radiation: UV light, X rays
Chemical:
 Base analogs: imposter DNA or RNA
 Distorters: insert between the rungs of DNA, distort the
double helix, cigarettes
CW 5: THE CANCEROUS COST OF TANNING
Complete CW 3 in assigned groups
Need 3 bags:
 1 month tanning
 3 months tanning
 6 months tanning
After drawing a bead, return it to the bag, then
redraw.
HW 1: Protein Synthesis
Review
SUMMARY 2:
3.2 (A DAY)
3.6 (B DAY)
Outcome:
Develop a
definition for
different
types of
mutations by
analyzing
DNA codes.
 A mutation occurs in a cell.
Which of these represents the
correct order of the events for
the mutation to affect the traits
expressed by this cell?
a. a change in the sequence of DNA
bases → joining amino acids in
sequence → appearance of trait
b. joining amino acids in sequence
→ a change in the sequence of
DNA bases → appearance of trait
c. appearance of trait → joining
amino acids in sequence → a
change in the sequence of DNA
bases
d. a change in the sequence of DNA
bases → appearance of trait →
joining amino acids in sequence
DRILL 3:
3.7 (A DAY)
3.8 (B DAY)
Outcome:
Explain ways
that viruses
may be
harmful and
helpful to
humans.
HW 1: PROTEIN SYNTHESIS REVIEW
HW 1: PROTEIN SYNTHESIS REVIEW
What the major differences and similarities
between DNA and RNA?
 DNA is double stranded and stays in the nucleus. It’s
bases are A, T, G, and C.
 RNA is single stranded so it can exit the nucleus to
direct protein synthesis. It’s bases are A, U, G, C.
Describe the roles of mRNA, tRNA, and rRNA in
protein synthesis.
 mRNA is the working copy of the DNA.
 The ribosome is made of rRNA, which reads the mRNA
in sets of 3 (codons).
 The tRNA brings the correct amino acid (based on the
mRNA) to the ribosome to link together into a protein.
CW 5: THE CANCEROUS COST OF TANNING
Need 3 bags:
 1 month tanning
 3 months tanning
 6 months tanning
After drawing a bead, return it to the bag, then
redraw.
CW 5: THE CANCEROUS COST OF TANNING
1 month of UV Exposure
ACGAAT T ACAGACAACT GGAT T CA
T G C T T A A T G T C T* G T T G A C C T A A G T
3 months of UV Exposure
ACGAAT T ACAGACAACT GGAT T CA
T G C T* T A A T G T C T G T T* G A C C T A A G T
6 months of UV Exposure
ACGAAT T ACAGACAACT GGAT T CA
T G C T* T* A A T G T C T G T T* G A C C T* A A G T*
CW 5: THE CANCEROUS COST OF TANNING
Step 6: Conclusions
1. Based on your graph, how does exposure to UV
radiation affect the rate of DNA mutation?
Predict what the mutation rate will be at the
end of your 1 year tanning membership.


More exposure over time increases the mutation rate.
At 1 year, the mutation rate will be higher than it was
for six months.
CW 5: THE CANCEROUS COST OF TANNING
Step 6: Conclusions
2. Compare your data to a friend’s. Is it exactly
the same? What might this indicate about
factors affecting mutation rate?


It is not exactly the same, as beads were drawn at
random, but it does show the same trend.
Each person is a complex system – other variations
beside amount of exposure may impact the mutation
rate, such as the general health of the person.
CW 5: THE CANCEROUS COST OF TANNING
Step 6: Conclusions
3. Cigarettes contain many chemical mutagens.
How do you think the mutation rate for a
person who has just started smoking would
compare to that of a person who has smoked
for 10 years?

A person who has been smoking for longer has been
exposed to more mutagens, meaning they have a
higher mutation rate. This leads to various cancers.
CW 6: GENETIC DISORDER FACT SHEET
Complete for HW
Use the resources below to complete the fact
sheet (separate hand out).
 http://www.dls.ym.edu.tw/ol_biology2/ultranet/mutatio
ns.html
 http://en.wikipedia.org/wiki/List_of_genetic_disorders
 http://learn.genetics.utah.edu/content/disorders/whata
regd/
This assignment will be collected and graded
based on correctness.
CW 7: VIRUSES AND CANCER
Complete the reading and answer the questions.
1. How do viruses reproduce?
2. How do viruses alter DNA, possibly leading to caner?
Explain.
3. There are two vaccines available for HPV. Why is it
important for individuals to receive the vaccine before
they are exposed to the virus?
4. Why are HPV cancers rarer in the United States than in
other countries?
5. What is the relationship between EBV, mono, and
cancer?
6. What does MCV stand for? What does this virus do?
CW 8: VIRUSES AND GENE THERAPY
Answer questions as we go along.
YouTube Link:
http://www.youtube.com/watch?v=Ez560GnkSrE
ALD Presentation
HW: Complete CW 6, Due:
A Day: 3.13
B Day 3.14
CW 1 to CW 8 should be
completed after today
Play the protein synthesis
game on Edmodo
SUMMARY 3:
3.7 (A DAY)
3.8 (B DAY)
Outcome:
Explain ways
that viruses
may be
harmful and
helpful to
humans.
Explain the difference
between missense,
nonsense, and silent
mutations.
Missense: mutation codes
wrong amino acid
Silent: changes one base, but
still codes for correct amino
acid
Nonsense: mutation leads to a
stop codon; protein cut off
DRILL 4:
3.9 (A DAY)
3.10 (B DAY)
Outcome: I
can assess if
viruses are
helpful or
harmful. I
can debate
the risks and
benefits of
GMOs by
discussing
articles.
CW 9: VIRUSES AND THE HUMAN GENOME
Summarize your findings from the reading,
video, and presentation by creating a thinking
map to address the following:
How do viruses affect the human genome?
When your teacher gives the signal, each person
should claim one of the borders of the poster
and briefly answer the following:
Are viruses helpful or harmful to humans, and
why?
WHAT IS GENETIC ENGINEERING?
Genetic Modification
Extreme Genetic Engineering
Examples:
 Insulin
 Flavrsavr tomato (1994-1997)
 Golden rice
Problems:
 What if a bioterrorist engineers a “super bug”?
 What if a genetically modified organism cross breed
with wild organisms? What will this do to the
ecosystem?
THE GMO DEBATE
Are GMOs good, or bad?
 Too simple: Are people good or bad? You can’t answer a
big, important question with “good or bad”
The Problem of Trust
 Trust: evidence based studies, experts (high level college
degrees)
 Do not trust: anyone who is 100% on one side of the
other, OR anyone who will make money off of one side
or another, propaganda
Who makes the rules?
ASSIGNED READINGS
1.
2.
3.
4.
5.
6.
A Hippie’s Defense of GMOs
We need GMO wheat
Vegan GMO
Arguments in Favor of Genetically Modified Crops
Strong Support for Labeling Modified Foods
Genetically Modified Crop on the Loose and
Evolving in U.S. Midwest
7. Modern Farmer explains why there are no GMO
oats
8. A to Z; Genetic Pollution
9. Genetically Modified Foods: What is and isn’t true
10.GMO FAQs: The Non-GMO Project
GMO PROJECT
Summarize an article which is either pro-GMO or
anti-GMO. Complete the summary sheet for the
article.
Create a group thinking map which summarizes
the risks and benefits of GMOs.
Using evidence gathered from your reading and
your thinking map, write an essay explaining the
risks and benefits of GMOs, as well as justifying
your opinion on GMOs.
See detailed rubrics in unit packet.
CW 10: KARYOT YPING GIZMO
Login to www.explorelearning.com
 Username: leffelbio
 Password: leffelbio
Complete gizmo with a partner.
Complete the prior knowledge questions while
you wait for the laptop to logon.
Patient C
CW 10: KARYOT YPING GIZMO
Patient D
CW 10: KARYOT YPING GIZMO
Patient E
CW 10: KARYOT YPING GIZMO
HW 2: Article and Summary
Sheet
CW 1 to CW 12 should be
completed after today
Major Quiz on 3.27 (A Day)
and 3.28 (B Day)
Quarterly Assessments:
4A: 3.23
1B: 3.24
4B: 3.22
CW 6 (chart) due 3.13 (A
Day) and 3.14 (B day)
DRILL 4:
3.9 (A DAY)
3.10 (B DAY)
Outcome: I
can assess if
viruses are
helpful or
harmful. I
can debate
the risks and
benefits of
GMOs by
discussing
articles.
Scientists have altered crop
plants to make them more
resistant to insects and
disease. Which of these
processes makes it possible
for scientists to alter
plants?
Hand in
a.
b.
c.
d.
Natural selection
Gene splicing
Adaptation
Chemosynthesis
the
Genetic
Disorders
Fact Sheet
DRILL 5:
3.13 (A DAY)
3.16 (B DAY)
Outcome:
Explore
different
applications
of genomic
technologies
by
completing
simulations.
HW 2: ARTICLE AND SUMMARY SHEET
Grab your poster from last class, flip to the back.
Create a thinking map that compares the
benefits and disadvantages of genetically
modified organisms.
CW 10: KARYOT YPING GIZMO
Login to www.explorelearning.com
 Username: leffelbio
 Password: leffelbio
Complete gizmo with a partner.
Complete the prior knowledge questions while
you wait for the laptop to logon.
Patient C
CW 10: KARYOT YPING GIZMO
Patient C
CW 10: KARYOT YPING GIZMO
Patient D
CW 10: KARYOT YPING GIZMO
Patient D
CW 10: KARYOT YPING GIZMO
Patient E
CW 10: KARYOT YPING GIZMO
Patient E
CW 10: KARYOT YPING GIZMO
CW 11: CLICK AND CLONE
Go to:
http://learn.genetics.utah.edu/content/cloning/
clickandclone/
Or Google: “Click and Clone”
CW 12: GEL ELECTROPHORESIS
Go to:
http://learn.genetics.utah.edu/content/labs/gel
Or Google: “gel electrophoresis utah”
B Day should skip this CW.
CW 13: SNP ANALYSIS PHARMACOGENOMICS
A copy of the DNA sequence data for the
patients from page 35 in your unit packet has
been provided.
READ and FOLLOW DIRECTIONS!
Work individually or in pairs.
HW 3: GMO Essay Planning
Sheet
CW 1 to CW 12 should be
completed after today
Major Quiz on 3.27 (A Day)
and 3.28 (B Day)
Quarterly Assessments:
4A: 3.23
1B: 3.24
4B: 3.22
Review for Quarterly
Assessment due on exam day
SUMMARY 4:
3/27/15
(B DAY)
Outcome:
Explore
different
applications
of genomic
technologies
by
completing
simulations.
AGENDA: 3.15 (A DAY)
CW 13: SNP Analysis and Pharmacogenomics
 Not going to cut out, just read across.
Finish CW 12
Work on LINCs words
Work on review
Unit packets should be completed after today
Major Quiz on 3.27 (A Day) and 3.28 (B Day)
HW 4: Review for Quarterly Assessment due:
 4A: 3.23
 1B: 3.24
 4B: 3.22
AGENDA: 3.16 (B DAY)
 CW
 CW
 CW
 CW
10:
11:
12:
13:
Karyotyping Gizmo
Click and Clone
Skip this one
SNP Analysis and Pharmacogenomics
 Not going to cut out, just read across.
 Work on LINCs words
 Work on review
 Unit packets should be completed after today –
collected next class
 HW 3: GMO Essay Planning Sheet
 Major Quiz on 3.27 (A Day) and 3.28 (B Day)
 HW 4: Review for Quarterly Assessment due :
 4A: 3.23
 1B: 3.24
 4B: 3.22
AGENDA: 3.20 (B DAY)
Hand in unit packets
HW 3: GMO Essay Planning Sheet
HW 4: Review for Quarterly Assessment due:
 4A: 3.23
 1B: 3.24
 4B: 3.22
Major Quiz on 3.27 (A Day) and 3.28 (B Day)
GENETIC DISORDERS: CYSTIC FIBROSIS
Specific Type of Mutation:
 Frame shift (missense or nonsense)
Change in the Protein:
 Missing amino acid
 Early stop codon
Physical Symptoms:
 Disorder of connective tissue
Cures/Treatments:
 Treat symptoms, keep lungs clear
 No cure
GENETIC DISORDERS: MARFAN’S SYNDROME
Specific Type of Mutation:
 Deletion of 366 bases
 Substitution leading to stop codon
Change in the Protein:
 Misfolding of protein shape
 Early stop codon
Physical Symptoms:
 Disorder of connective tissue
Cures/Treatments:
 Heart medicine
 Brace, surgery
 No cure
GENETIC DISORDERS: HUNTINGTON DISEASE
Specific Type of Mutation:
 Insertion of CAG codons (extensive missense)
Change in the Protein:
 Lengthens protein
Physical Symptoms:
 Poor coordination
 Reduced mental capacity
Cures/Treatments:
 Full time care
 No cure
GENETIC DISORDERS: DUCHENE MUSCULAR DYSTROPHY
Specific Type of Mutation:
 Deletion/ insertion (missense)
Change in the Protein:
 Missing or extra amino acids
 Protein not produced at all
Physical Symptoms:
 Muscle weakness and wasting
Cures/Treatments:
 Treat heart/ muscle conditions
 No cure
GENETIC DISORDERS: PKU
Specific Type of Mutation:
 Substitution
Change in the Protein:
 Wrong amino acid (missense)
Physical Symptoms:
 Too much phenylalanine (an amino acid) in blood,
intellectual disability
Cures/Treatments:
 Limit protein in diet
 No cure
GENETIC DISORDERS: TAY-SACHS DISEASE
Specific Type of Mutation:
 Frame shift due to insertion/ deletion (missense)
Change in the Protein:
 Early stop codon (nonsense)
Physical Symptoms:
 Degeneration of nerve cells and mental ability
Cures/Treatments:
 Genetic screening
GENETIC DISORDERS: HEMOPHILIA
Specific Type of Mutation:
 Insertion/ deletion
Change in the Protein:
 Missing/ extra amino acids (missense)
Physical Symptoms:
 No blood clotting
Cures/Treatments:
 Medication to increase clotting
GENETIC DISORDERS: SICKLE CELL ANEMIA
Specific Type of Mutation:
 Substitution resulting in missense
Change in the Protein:
 Glutamic acid replaced by Valine (missense)
Physical Symptoms:
 Low red blood cell count
 Tire easily
Cures/Treatments:
 Supplements to promote red blood cell production
 Blood transfusions
 No cure