Author

Year
Publishe
d

Name of
mutatio
n

Type of
mutation

Effect of
mutation

(M.
Saeed,
2009)

2009

A4V

Mutation
change of
amino
acid(alanin
e to valine)

(Joseph S.
Beckman)

2001

G93A

Mutation
change of
amino acid

(Familial
amyotrop
hic lateral
sclerosis
with
novel
A4D
SOD1
mutation
with late
age at
onset and
rapid
progressi
ve
course)
(Familial
amyotrop
hic lateral
sclerosis
with
novel
A4D
SOD1
mutation

2012

A4T

Mutation
change of
amino
acid(alanin
e to
threonine)

dominant
form of
amyotrophi
c lateral
sclerosis
(ALS) with
exclusively
lower
motor
neuron
disease
Produces
large
aggregates
in
motoneuro
ns without
cell death
Lead to
hydrophobi
c to neutral
amino acid
change in
sensitive
domain of
protein.
Cause
motor
neurone
disease

2012

A4S

Mutation
change of
amino
acid(alanin
e to serine)

Lead to
hydrophobi
c to neutral
amino acid
change in
sensitive
domain of
protein.
Cause

Location
of
mutatio
n
Position
4/
Codon 4

Position
93/
Codon
93

Position
4/
Codon 4

Position
4/
Codon 4

Structur
e of
mutation
Have
problem
In metal
binding

with late
age at
onset and
rapid
progressi
ve
course)
(Familial
amyotrop
hic lateral
sclerosis
with
novel
A4D
SOD1
mutation
with late
age at
onset and
rapid
progressi
ve
course)
(Gisela
NogalesGadea)

motor
neurone
disease

2012

A4F

Mutation
change of
amino
acid(alanin
e to
phenylalani
ne)

Lead to
hydrophobi
c to neutral
amino acid
change in
sensitive
domain of
protein.
Cause
motor
neurone
disease

Position
4/
Codon 4

2004

N139H

Mutation
change of
amino
acid(histidi
ne
asparagine
)

Lead to
hydrophobi
c to neutral
amino acid
change in
sensitive
domain of
protein.
Cause
motor
neurone
disease

Position
139/
Codon
139

(Takanori
Takazawa
)

2010

G85S

Mutation
change of
amino
acid(glycin
e to serine)

Position
85/
Codon
85

(Takanori

2010

H48G

Mutation

Muscle
weakness,
have no
upper
motor
neuron
signs
Short

Position

Asparagi
ne 139 is
well
conserve
d among
different
SOD1s.
The
N139H
mutation
was not
found in
40 FALs
family
proband
s

Takazawa
)

change of
amino
acid(histidi
ne to
glutamine)

(Mitsuya
Morita)

1998

Asp90V
al

(P. M.
Andersen
)

1996

Asp90Al
a

Mutation
change of
amino
acid(Aspart
ic acid to
Valine)
Mutation
change of
amino
acid(Aspart
ic acid to
alanine)

survival
and
predomina
ntly lower
motor
neurons
signs
Urgency of
micturition,
muscle
weakness

48/
Codon
48

Motor
neuron
disease

Position
90

Position
90

Associat
ed with
recessiv
e
inheritan
ce