Variant detail

mut_id 57 · c.1261C>T · p.Arg421Cys

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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 Conflicting classifications of pathogenicity Residue 421 AlphaMissense key R421C
HGVS
c.1261C>T
Protein change
p.Arg421Cys
rsID
rs145825553
ClinVar ID
450994
GRCh38 coordinate
133433657
Location
exon 11
gnomAD AF
0.0005521
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP ClinVar 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
R → C at 421
AlphaMissense score
0.2421
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → buried
Hydropathy index
-4.5 → 2.5
Molecular weight
174.2 → 121.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
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 421 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Hungary (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=8; range=8–8
Age of onset
n=1; median=40; range=40–40
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1261C>T
cdna_numb_HGVS
1261
cdna_numb_legacy
1261
nt_change
C>T
n_bp
1
nuc_numb
1261
g_numb
g16
aa_numb_HGVS
421
aa_numb_legacy
421
aa_first
Arg
aa_last
Cys
aa_syn
p.Arg421Cys
codon_first
CGT
codon_last
TGT
coordinate_GRCh38
133433657
gnomAD_AC
891
gnomAD_AN
1613784
gnomAD_AF
0.0005521
clinvar_id
450994
clinvar_classification
Conflicting classifications of pathogenicity
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
244 57 255 307 cTTP compound_heterozygous Hungary female 40 unknown 8 unknown yes pregnancy unknown