Variant detail
mut_id 278 · c.559G>C · p.Asp187His
Evidence at a glance
2
Linked patients
2
Patient-variant records
3
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity
Summary
Point missense_variant Conflicting classifications of pathogenicity Residue 187 AlphaMissense key D187H
HGVS
c.559G>C
Protein change
p.Asp187His
rsID
rs148312697
ClinVar ID
632074
GRCh38 coordinate
133426218
Location
exon 6
gnomAD AF
0.0003966
Domain
Metalloprotease
Gene
ADAMTS13
References
NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) caused by novel ADAMTS13 mutations
Incidence of obstetrical thrombotic thrombocytopenic purpura in a retrospective study within thrombocytopenic pregnant women. A difficult diagnosis and a treatable disease
Amino-acid property change
Residue substitution
D → H at 187
AlphaMissense score
0.4003
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
negative → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
acidic → aromatic/basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.2
Molecular weight
133.1 → 155.2
Original residue details
D
· aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
H
· histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
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 187 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
France (1); Belgium (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
yes (2)
Triggers
pregnancy (2)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=3; range=1–5
Age of onset
n=2; median=26.5; range=22–31
Age of diagnosis
n=2; median=31.5; range=22–41
Platelet count
n=2; median=15.5; range=14–17
Variant fields
mut_syn_HGVS
c.559G>C
cdna_numb_HGVS
559
cdna_numb_legacy
559
nt_change
G>C
n_bp
1
nuc_numb
559
g_numb
g16
aa_numb_HGVS
187
aa_numb_legacy
187
aa_first
Asp
aa_last
His
aa_syn
p.Asp187His
codon_first
GAT
codon_last
CAT
coordinate_GRCh38
133426218
gnomAD_AC
640
gnomAD_AN
1613864
gnomAD_AF
0.0003966
clinvar_id
632074
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
comments
Conflicting interpretations of pathogenicity
refState
complete
ref_id
7, 103, 104, 332
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 57 | 278 | 247 | 103 | cTTP | compound_heterozygous | France | female | 22 | 22 | <5 | 17 | yes | pregnancy | unknown |
| 58 | 278 | . | 104 | cTTP | compound_heterozygous | Belgium | female | 31 | 41 | <1 | 14 | yes | pregnancy | unknown |