Variant detail
mut_id 153 · c.3728T>C · p.Leu1243Pro
Evidence at a glance
0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity
Summary
Point missense_variant Residue 1243 AlphaMissense key L1243P
HGVS
c.3728T>C
Protein change
p.Leu1243Pro
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13
References
Upshaw-Schulman Syndrome: Novel homozygous missense mutation
Amino-acid property change
Residue substitution
L → P at 1243
AlphaMissense score
0.6955
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
3.8 → -1.6
Molecular weight
131.2 → 115.1
Original residue details
L
· leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
P
· proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
Interactive AlphaFold structure
Interactive local 3D view of the AlphaFold Q76LX8 ADAMTS13 structure.
Drag to rotate, shift-drag to move, and use the mouse wheel to zoom in and out. The default view shows the full ADAMTS13 structure, with residue 1243 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.
Patient summary
No linked patients found for this variant.
Variant fields
mut_syn_HGVS
c.3728T>C
cdna_numb_HGVS
3728
cdna_numb_legacy
3728
nt_change
T>C
n_bp
1
nuc_numb
3728
g_numb
g16
aa_numb_HGVS
1243
aa_numb_legacy
1243
aa_first
Leu
aa_last
Pro
aa_syn
p.Leu1243Pro
codon_first
CTG
codon_last
CCG
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
292
Patients linked by mut_id
No linked patients found.