Variant detail

mut_id 271 · c.4085A>T · p.Asp1362Val

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity

Summary

Point missense_variant Residue 136 AlphaMissense key D136V
HGVS
c.4085A>T
Protein change
p.Asp1362Val
Location
exon 29
gnomAD AF
2.0538E-06
Domain
Metalloprotease
Gene
ADAMTS13

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w
Characterization of coding synonymous and non-synonymous variants in ADAMTS13 using ex vivo and in silico approaches
Authors: Edwards NC, Hing ZA, Perry A, Blaisdell A, Kopelman DB, Fathke R, Plum W, Newell J, Allen CE, S G, Shapiro A, Okunji C, Kosti I, Shomron N, Grigoryan V, Przytycka TM, Sauna ZE, Salari R, Mandel-Gutfreund Y, Komar AA, Kimchi-Sarfaty C.
Source: PLoS One (2012)
Citation: PLoS One. 2012;7(6):e38864. doi: 10.1371/journal.pone.0038864. Epub 2012 Jun 29.
PubMed: 22768050 · DOI: 10.1371/journal.pone.0038864
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Authors: Maragliano R, Perrot A, Loget P, Combescure C, Belhomme N, Faoucher M, Dubourg C, Fradin M, Collardeau-Frachon S
Source: Virchows Arch (2025)
Citation: Virchows Arch. 2025 Aug 4. doi: 10.1007/s00428-025-04200-8
PubMed: 40760196 · DOI: 10.1007/s00428-025-04200-8

Amino-acid property change

Residue substitution
D → V at 136
AlphaMissense score
Not available
No local AlphaMissense row found for D136V.
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → nonpolar
Size
medium → medium (unchanged)
Residue type
acidic → aliphatic
Typical protein position
surface → buried
Hydropathy index
-3.5 → 4.2
Molecular weight
133.1 → 117.1
Original residue details
D · aspartic acid
code: Asp
hydro: hydrophilic
charge: negative
polarity: polar
size: medium
type: acidic
Variant residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
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 136 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Argentina (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
n=1; median=31; range=31–31
Age of diagnosis
n=1; median=32; range=32–32
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.4085A>T
cdna_numb_HGVS
4085
cdna_numb_legacy
4085
nt_change
A>T
n_bp
1
nuc_numb
4085
g_numb
g16
aa_numb_HGVS
136
aa_numb_legacy
136
aa_first
Asp
aa_last
Val
aa_syn
p.Asp1362Val
codon_first
Limited info
gnomAD_AF
2.0538E-06
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 248, 317

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
230 271 . 248 cTTP homozygous Argentina female 31 32 <0.5 unknown yes pregnancy unknown