Variant detail

mut_id 38 · c.768_774del7 · p.Arg257Alafs*13

Back Advanced search Full table

Evidence at a glance

2
Linked patients
2
Patient-variant records
2
Linked references
2
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Deletion Deletion Residue 257 AlphaMissense key R257A
HGVS
c.768_774del7
Protein change
p.Arg257Alafs*13
GRCh38 coordinate
133428712
Location
exon 7
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

Unexpected frequency of Upshaw-Schulman syndrome in pregnancy-onset thrombotic thrombocytopenic purpura
Authors: Moatti-Cohen M, Garrec C, Wolf M, Boisseau P, Galicier L, Azoulay E, Stepanian A, Delmas Y, Rondeau E, Bezieau S, Coppo P, Veyradier A; French Reference Center for Thrombotic Microangiopathies.
Source: Blood (2012)
Citation: Blood. 2012 Jun 14;119(24):5888-97. doi: 10.1182/blood-2012-02-408914. Epub 2012 Apr 30.
PubMed: 22547583 · DOI: 10.1182/blood-2012-02-408914
Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report
Authors: Al Mandhari H, Albulushi F, Al-Mashaikhi N
Source: Case Rep Perinat Med. (2025)
Citation: Case Rep Perinat Med. 2025 Jul 9;14(1):20240050. doi: 10.1515/crpm-2024-0050
PubMed: 40642024 · DOI: 10.1515/crpm-2024-0050

Amino-acid property change

Residue substitution
R → A at 257
AlphaMissense score
0.0806
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → small
Residue type
basic → aliphatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → 1.8
Molecular weight
174.2 → 89.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic

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 257 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1); Thailand (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (1); male (1)
Pregnancy-related
no (2)
Triggers
unknown (1); none (1)
Treatment
unknown (1); PI (1)
ADAMTS13 activity
n=2; median=4; range=3–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=2; median=13; range=5–21

Variant fields

mut_syn_HGVS
c.768_774del7
cdna_numb_HGVS
768
cdna_numb_legacy
768
nt_change
Deletion
n_bp
7
nuc_numb
768
g_numb
g16
aa_numb_HGVS
257
aa_numb_legacy
257
aa_first
Arg
aa_last
Ala
aa_syn
p.Arg257Alafs*13
codon_first
GC
codon_last
G
coordinate_GRCh38
133428712
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
140, 315

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
118 38 321 140 cTTP compound_heterozygous China female <1 1 <5 5 no unknown unknown
287 38 14 315 cTTP compound_heterozygous Thailand male <1 unknown <3 21 no none PI