Variant detail

mut_id 64 · c.1328T>C · p.Leu443Pro

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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 443 AlphaMissense key L443P
HGVS
c.1328T>C
Protein change
p.Leu443Pro
GRCh38 coordinate
133436848
Location
exon 12
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679

Amino-acid property change

Residue substitution
L → P at 443
AlphaMissense score
0.2235
Likely benign
CSV class: LBen
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
Variant residue details
P · proline
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 443 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1328T>C
cdna_numb_HGVS
1328
cdna_numb_legacy
1328
nt_change
T>C
n_bp
1
nuc_numb
1328
g_numb
g16
aa_numb_HGVS
443
aa_numb_legacy
443
aa_first
Leu
aa_last
Pro
aa_syn
p.Leu443Pro
codon_first
CTG
codon_last
CCG
coordinate_GRCh38
133436848
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76

Patients linked by mut_id

No linked patients found.