Variant detail
mut_id 102 · c.2272T>C · p.Cys758Arg
Evidence at a glance
2
Linked patients
2
Patient-variant records
5
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity
Summary
Point missense_variant Likely pathogenic Residue 758 AlphaMissense key C758R
HGVS
c.2272T>C
Protein change
p.Cys758Arg
rsID
rs281875300
ClinVar ID
68810
GRCh38 coordinate
133443413
Location
exon 19
gnomAD AF
1.25E-06
Domain
TSP type-1 3
Gene
ADAMTS13
References
Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia
Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Amino-acid property change
Residue substitution
C → R at 758
AlphaMissense score
0.7203
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C
· cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
R
· arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: 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 758 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
France (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (1); female (1)
Pregnancy-related
no (1); yes (1)
Triggers
none (1); pregnancy (1)
Treatment
unknown (2)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=14; range=14–14
Platelet count
Not available
Variant fields
mut_syn_HGVS
c.2272T>C
cdna_numb_HGVS
2272
cdna_numb_legacy
2272
nt_change
T>C
n_bp
1
nuc_numb
2272
g_numb
g16
aa_numb_HGVS
758
aa_numb_legacy
758
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys758Arg
codon_first
TGT
codon_last
CGT
coordinate_GRCh38
133443413
gnomAD_AC
2
gnomAD_AN
1599414
gnomAD_AF
1.25E-06
clinvar_id
68810
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
12, 71, 139, 176, 312
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 265 | 102 | . | 176 | cTTP | compound_heterozygous | France | male | <1 | 14 | <5 | unknown | no | none | unknown |
| 302 | 102 | 360 | 12 | cTTP | compound_heterozygous | France | female | unknown | unknown | unknown | unknown | yes | pregnancy | unknown |