SAV-Pred - Single Amino acid Variants Predictor
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id
Gene
Position
Substitution
Pathogenic
Benign
Disease
id
Gene
Position
Substitution
Pathogenic
Benign
Disease
Make prediction
Input
Example
One request
*.csv file
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Input data
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Input data
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Dataset:
Monogenic Hereditary Diseases Studied in Newborn Screening
Inborn Errors of Immunity
Others
Gene:
Please select
ABCD1
ACADM
ACADVL
ASL
ASS1
BTD
CFTR
FAH
GAA
GALT
GCDH
HADHA
HADHB
HBB
HLCS
HMGCL
IDUA
IVD
MCCC1
MCCC2
MMUT
PAH
PCCB
SLC22A5
TSHR
Disease:
Please select
3-Hydroxy-3-methylglutaric aciduria
3-Methylcrotonyl-CoA carboxylase deficiency
3-Methylcrotonyl-CoA carboxylase deficiency
Argininosuccinic aciduria
Biotinidase deficiency
Carnitine uptake defect/transport defect
Classic galactosemia
Classic phenylketonuria
Cystic fibrosis
Glutaric acidemia type I
Glycogen Storage Disease Type II (Pompe)
Hemoglobinopathies
Holocarboxylase synthase deficiency
Homocystinuria Citrullinemia, type I
Isovaleric acidemia
Long-chain L-3 hydroxyacyl-CoA dehydrogenase deficiency
Medium-chain acyl-CoA dehydrogenase deficiency
Methylmalonic acidemia
Mucopolysaccharidosis type 1
Primary congenital hypothyroidism
Propionic acidemia β-ketothiolase deficiency
Trifunctional protein deficiency
Tyrosinemia, type I
Very long-chain acyl-CoA dehydrogenase deficiency
X-linked adrenoleukodystrophy
Position:
Max position:
Amino acid:
Please select
A (Ala)
R (Arg)
N (Asn)
D (Asp)
C (Cys)
Q (Gln)
E (Glu)
G (Gly)
H (His)
I (Ile)
L (Leu)
K (Lys)
M (Met)
F (Phe)
P (Pro)
S (Ser)
T (Thr)
W (Trp)
Y (Tyr)
V (Val)