Variant detail

mut_id 126 · c.3014A>T · p.Glu1005Val

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 1005 AlphaMissense key E1005V
HGVS
c.3014A>T
Protein change
p.Glu1005Val
GRCh38 coordinate
133449935
Location
exon 23
Domain
TSP type-1 6
Gene
ADAMTS13

External links

gnomAD

References

Genotype–Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants
Authors: Radhakrishnan N, Pandharipande A S, Gaire H, et al.
Source: Cureus (2025)
Citation: Cureus 17(11): e97714
PubMed: 41458739 · DOI: 10.7759/cureus.97714

Amino-acid property change

Residue substitution
E → V at 1005
AlphaMissense score
0.1574
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
acidic → aliphatic
Typical protein position
surface → buried
Hydropathy index
-3.5 → 4.2
Molecular weight
147.1 → 117.1
Original residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
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 1005 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3014A>T
cdna_numb_HGVS
3014
cdna_numb_legacy
3014
nt_change
A>T
n_bp
1
nuc_numb
3014
g_numb
g16
aa_numb_HGVS
1005
aa_numb_legacy
1005
aa_first
Glu
aa_last
Val
aa_syn
p.Glu1005Val
codon_first
GAG
codon_last
GTG
coordinate_GRCh38
133449935
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
319

Patients linked by mut_id

No linked patients found.