Variant detail

mut_id 69 · c.1408dup · p.Trp470Leufs*64

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Evidence at a glance

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

Summary

Duplication frameshift_variant Residue 470 AlphaMissense key W470L
HGVS
c.1408dup
Protein change
p.Trp470Leufs*64
GRCh38 coordinate
133436928
Location
exon 12
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

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
Congenital Thrombotic Thrombocytopenic Purpura: A Rare Cause of Recurrent Thrombocytopenia and Anemia
Authors: Assiri M, AlMalki A, AlHunif B, AlMofareh M.
Source: Cureus (2023)
Citation: Cureus. 2023 Sep 10;15(9):e44988. doi: 10.7759/cureus.44988. eCollection 2023 Sep.
PubMed: 37822445 · DOI: 10.7759/cureus.44988

Amino-acid property change

Residue substitution
W → L at 470
AlphaMissense score
0.8284
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → large (unchanged)
Residue type
aromatic → aliphatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
-0.9 → 3.8
Molecular weight
204.2 → 131.2
Original residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
Variant residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
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 470 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
France (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=9; range=9–9
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1408dup
cdna_numb_HGVS
1408
cdna_numb_legacy
1408
nt_change
Duplication
nuc_numb
1408
g_numb
g16
aa_numb_HGVS
470
aa_numb_legacy
470
aa_first
Trp
aa_last
Leu
aa_syn
p.Trp470Leufs*64
coordinate_GRCh38
133436928
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
7, 12

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
301 69 133 12 cTTP compound_heterozygous France female unknown unknown 9 unknown yes pregnancy unknown