ATM
ANALYSIS
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Single variant
Representation
Metapredictor (residues 1960 - 3056)
Bioinformatics (residues 1960 - 3056)
Adapted Guidelines - Feliubadalo et al.
Adapted Guidelines - ClinGen
Native amino acid
A - Ala
C - Cys
D - Asp
E - Glu
F - Phe
G - Gly
H - His
I - Ile
K - Lys
L - Leu
M - Met
N - Asn
P - Pro
Q - Gln
R - Arg
S - Ser
T - Thr
V - Val
W - Trp
Y - Tyr
Residue
Mutated amino acid
A - Ala
C - Cys
D - Asp
E - Glu
F - Phe
G - Gly
H - His
I - Ile
K - Lys
L - Leu
M - Met
N - Asn
P - Pro
Q - Gln
R - Arg
S - Ser
T - Thr
V - Val
W - Trp
Y - Tyr
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Multiple variants
Representation
Metapredictor (residues 1960 - 3056)
Bioinformatics (residues 1960 - 3056)
Adapted Guidelines - Feliubadalo et al.
Adapted Guidelines - ClinGen
List of variants
(max. 500)
L2332P R3008C
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