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In silico screening and molecular dynamics simulation of disease-associated nsSNP in TYRP1 gene and its structural consequences in OCA3.
[oculocutaneous albinism]
Oculocutaneous
albinism
type
III
(
OCA
3
)
,
caused
by
mutations
of
TYRP
1
gene
,
is
an
autosomal
recessive
disorder
characterized
by
reduced
biosynthesis
of
melanin
pigment
in
the
hair
,
skin
,
and
eyes
.
The
TYRP
1
gene
encodes
a
protein
called
tyrosinase
-related
protein-
1
(
Tyrp
1
)
.
Tyrp
1
is
involved
in
maintaining
the
stability
of
tyrosinase
protein
and
modulating
its
catalytic
activity
in
eumelanin
synthesis
.
Tyrp
1
is
also
involved
in
maintenance
of
melanosome
structure
and
affects
melanocyte
proliferation
and
cell
death
.
In
this
work
we
implemented
computational
analysis
to
filter
the
most
probable
mutation
that
might
be
associated
with
OCA
3
.
We
found
R
326
H
and
R
356
Q
as
most
deleterious
and
disease
associated
by
using
PolyPhen
2
.
0
,
SIFT
,
PANTHER
,
I
-
mutant
3
.
0
,
PhD-SNP
,
SNP
&
GO
,
Pmut
,
and
Mutpred
tools
.
To
understand
the
atomic
arrangement
in
3
D
space
,
the
native
and
mutant
(
R
326
H
and
R
356
Q
)
structures
were
modelled
.
Finally
the
structural
analyses
of
native
and
mutant
Tyrp
1
proteins
were
investigated
using
molecular
dynamics
simulation
(
MDS
)
approach
.
MDS
results
showed
more
flexibility
in
native
Tyrp
1
structure
.
Due
to
mutation
in
Tyrp
1
protein
,
it
became
more
rigid
and
might
disturb
the
structural
conformation
and
catalytic
function
of
the
structure
and
might
also
play
a
significant
role
in
inducing
OCA
3
.
The
results
obtained
from
this
study
would
facilitate
wet-lab
researches
to
develop
a
potent
drug
therapies
against
OCA
3
.
Diseases
Validation
Diseases presenting
"albinism"
symptom
aniridia
cystinuria
harlequin ichthyosis
oculocutaneous albinism
phenylketonuria
This symptom has already been validated