Variant detail

mut_id 374 · c.1403C>G · p.Gln448Glu

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Evidence at a glance

4
Linked patients
4
Patient-variant records
3
Linked references
1
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point missense_variant Residue 448 AlphaMissense key Q448E
HGVS
c.1403C>G
Protein change
p.Gln448Glu
Location
exon 12
Domain
Cysteine-rich
Gene
ADAMTS13

References

von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
Authors: Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW.
Source: Blood (2003)
Citation: Blood. 2003 Mar 1;101(5):1845-50. doi: 10.1182/blood-2002-08-2399. Epub 2002 Oct 17.
PubMed: 12393505 · DOI: 10.1182/blood-2002-08-2399
[Thrombotic thrombocytopenic purpura in children -- pathophysiologic mechanisms and their clinical significance]
Authors: Korczowski B.
Source: Med Wieku Rozwoj (2005)
Citation: Med Wieku Rozwoj. 2005 Oct-Dec;9(4):753-61.
PubMed: 16733283
The frequency of P475S polymorphism in von Willebrand factor-cleaving protease in the Chinese population and its relevance to arterial thrombotic disorders
Authors: Ruan C, Dai L, Su J, Wang Z, Ruan C.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Jun;91(6):1257-8.
PubMed: 15175818

Amino-acid property change

Residue substitution
Q → E at 448
AlphaMissense score
0.0473
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → negative
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → acidic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.5 (unchanged)
Molecular weight
146.1 → 147.1
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
Variant residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic

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 448 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (4)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (4)
Sex
female (3); male (1)
Pregnancy-related
no (1); yes (1)
Triggers
none (3); pregnancy (1)
Treatment
unknown (4)
ADAMTS13 activity
n=4; median=6.5; range=1.6–7
Age of onset
n=1; median=23; range=23–23
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1403C>G
cdna_numb_HGVS
1403
cdna_numb_legacy
1403
nt_change
C>G
n_bp
1
nuc_numb
1403
g_numb
g16
aa_numb_HGVS
448
aa_numb_legacy
448
aa_first
Gln
aa_last
Glu
aa_syn
p.Gln448Glu
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
187, 273, 277

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
135 374 6 277 cTTP compound_heterozygous Italy female unknown unknown <6.5 unknown none unknown
136 374 6 277 cTTP compound_heterozygous Italy female unknown unknown <6.5 unknown none unknown
137 374 6 277 cTTP compound_heterozygous Italy male unknown unknown 7 unknown no none unknown
234 374 6 273 cTTP compound_heterozygous Italy female 23 unknown <1.6 unknown yes pregnancy unknown