Variant detail

mut_id 159 · c.4034del · p.Asn1345ThrfsTer14

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Evidence at a glance

2
Linked patients
2
Patient-variant records
1
Linked references
1
Countries reported
cTTP (2)
Common phenotype
homozygous (2)
Common zygosity

Summary

Deletion frameshift_variant Residue 1345 AlphaMissense key N1345T
HGVS
c.4034del
Protein change
p.Asn1345ThrfsTer14
Location
exon 29
gnomAD AF
0.00000656
Domain
CUB 2
Gene
ADAMTS13

References

Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
Authors: Enjeti AK, Chapman K, Taylor PJ, Meldrum C.
Source: Pathology (2015)
Citation: Pathology. 2015 Oct;47(6):585-6. doi: 10.1097/PAT.0000000000000303.
PubMed: 26352112 · DOI: 10.1097/PAT.0000000000000303

Amino-acid property change

Residue substitution
N → T at 1345
AlphaMissense score
0.1026
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → medium (unchanged)
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -0.7
Molecular weight
132.1 → 119.1
Original residue details
N · asparagine
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
T · threonine
code: Thr
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 1345 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Israel (2)
Phenotype
cTTP (2)
Zygosity
homozygous (2)
Sex
female (1); male (1)
Pregnancy-related
no (2)
Triggers
infection (2)
Treatment
PI (2)
ADAMTS13 activity
n=2; median=6; range=6–6
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=1; median=7; range=7–7
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.4034del
cdna_numb_HGVS
4034
cdna_numb_legacy
4034
nt_change
Deletion
nuc_numb
4034
g_numb
g16
aa_numb_HGVS
1345
aa_numb_legacy
1345
aa_first
Asn
aa_last
Thr
aa_syn
p.Asn1345ThrfsTer14
codon_first
Limited info
gnomAD_AF
0.00000656
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
233

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
203 159 . 233 cTTP homozygous Israel female 1 unknown <6 unknown no infection PI
204 159 . 233 cTTP homozygous Israel male <1 7 <6 unknown no infection PI