Variant detail

mut_id 134 · c.3199T>A · p.Cys1067Ser

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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 1067 AlphaMissense key C1067S
HGVS
c.3199T>A
Protein change
p.Cys1067Ser
GRCh38 coordinate
133454570
Location
exon 24
gnomAD AF
6.22E-07
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

References

PB0637 - A first care report of congenital thrombotic thrombocytopenic purpura (cTTP) in ADAMTS13 gene in Thailand
Source: ISTH 2024 (2024)
PubMed: ISTH 2024

Amino-acid property change

Residue substitution
C → S at 1067
AlphaMissense score
0.9449
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Not available
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.8
Molecular weight
121.2 → 105.0
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 1067 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Hungary (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=25; range=25–25
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3199T>A
cdna_numb_HGVS
3199
cdna_numb_legacy
3199
nt_change
T>A
n_bp
1
nuc_numb
3199
g_numb
g16
aa_numb_HGVS
1067
aa_numb_legacy
1067
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys1067Ser
codon_first
TGT
codon_last
AGT
coordinate_GRCh38
133454570
gnomAD_AC
1
gnomAD_AN
1607258
gnomAD_AF
6.22E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
307

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
243 134 169 307 cTTP compound_heterozygous Hungary male 25 unknown <1 unknown no none unknown