Variant detail

mut_id 274 · c.4184T>C · p.Leu1395Pro

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Evidence at a glance

1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 139 AlphaMissense key L139P
HGVS
c.4184T>C
Protein change
p.Leu1395Pro
Location
exon 29
gnomAD AF
1.5935E-06
Domain
Metalloprotease
Gene
ADAMTS13

References

The novel ADAMTS13-p.D187H mutation impairs ADAMTS13 activity and secretion and contributes to thrombotic thrombocytopenic purpura in mice
Authors: De Cock E, Hermans C, De Raeymaecker J, De Ceunynck K, De Maeyer B, Vandeputte N, Vandenbulcke A, Deckmyn H, Rottensteiner H, De Maeyer M, De Meyer SF, Vanhoorelbeke K.
Source: J Thromb Haemost (2015)
Citation: J Thromb Haemost. 2015 Feb;13(2):283-92. doi: 10.1111/jth.12804. Epub 2015 Jan 17.
PubMed: 25442981 · DOI: 10.1111/jth.12804

Amino-acid property change

Residue substitution
L → P at 139
AlphaMissense score
Not available
No local AlphaMissense row found for L139P.
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 139 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=37; range=37–37
Platelet count
n=1; median=22; range=22–22

Variant fields

mut_syn_HGVS
c.4184T>C
cdna_numb_HGVS
418
cdna_numb_legacy
418
nt_change
T>C
n_bp
1
nuc_numb
418
g_numb
g16
aa_numb_HGVS
139
aa_numb_legacy
139
aa_first
Leu
aa_last
Pro
aa_syn
p.Leu1395Pro
codon_first
Limited Info
gnomAD_AF
1.5935E-06
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
105

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
59 274 164 105 cTTP compound_heterozygous Italy female <1 37 <3 22 yes pregnancy unknown