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Computational screening of disease-associated mutations in OCA2 gene.
[oculocutaneous albinism]
Oculocutaneous
albinism
type
2
(
OCA
2
)
,
caused
by
mutations
of
OCA
2
gene
,
is
an
autosomal
recessive
disorder
characterized
by
reduced
biosynthesis
of
melanin
pigment
in
the
skin
,
hair
,
and
eyes
.
The
OCA
2
gene
encodes
instructions
for
making
a
protein
called
the
P
protein
.
This
protein
plays
a
crucial
role
in
melanosome
biogenesis
,
and
controls
the
eumelanin
content
in
melanocytes
in
part
via
the
processing
and
trafficking
of
tyrosinase
which
is
the
rate-limiting
enzyme
in
melanin
synthesis
.
In
this
study
we
analyzed
the
pathogenic
effect
of
95
non-synonymous
single
nucleotide
polymorphisms
reported
in
OCA
2
gene
using
computational
methods
.
We
found
R
305
W
mutation
as
most
deleterious
and
disease
associated
using
SIFT
,
PolyPhen
,
PANTHER
,
PhD-SNP
,
Pmut
,
and
MutPred
tools
.
To
understand
the
atomic
arrangement
in
3
D
space
,
the
native
and
mutant
(
R
305
W
)
structures
were
modeled
.
Molecular
dynamics
simulation
was
conducted
to
observe
the
structural
significance
of
computationally
prioritized
disease-associated
mutation
(
R
305
W
)
.
Root-mean-square
deviation
,
root-mean-square
fluctuation
,
radius
of
gyration
,
solvent
accessibility
surface
area
,
hydrogen
bond
(
NH
bond
)
,
trace
of
covariance
matrix
,
eigenvector
projection
analysis
,
and
density
analysis
results
showed
prominent
loss
of
stability
and
rise
in
mutant
flexibility
values
in
3
D
space
.
This
study
presents
a
well
designed
computational
methodology
to
examine
the
albinism
-associated
SNPs
.
Diseases
Validation
Diseases presenting
"is an autosomal recessive disorder characterized by reduced biosynthesis of melanin pigment in the skin"
symptom
oculocutaneous albinism
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