Variant detail

mut_id 56 · c.1256G>T · p.Gly419Val

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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

Point missense_variant Residue 419 AlphaMissense key G419V
HGVS
c.1256G>T
Protein change
p.Gly419Val
rsID
rs1024726284
GRCh38 coordinate
133433652
Location
exon 11
gnomAD AF
6.20E-07
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP 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
Infection as Trigger for Congenital Thrombotic Thrombocytopenic Purpura in an Adult Patient
Authors: Lozano Jaramillo DA, Jimenez Ochoa MA.
Source: J Med Cases (2021)
Citation: J Med Cases. 2021 Sep;12(9):339-342. doi: 10.14740/jmc3737. Epub 2021 Aug 25.
PubMed: 34527101 · DOI: 10.14740/jmc3737

Amino-acid property change

Residue substitution
G → V at 419
AlphaMissense score
0.7579
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
surface → buried
Hydropathy index
-0.4 → 4.2
Molecular weight
75.1 → 117.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
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 419 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
on-demand PI (1)
ADAMTS13 activity
n=1; median=1.1; range=1.1–1.1
Age of onset
n=1; median=26; range=26–26
Age of diagnosis
n=1; median=26; range=26–26
Platelet count
n=1; median=6; range=6–6

Variant fields

mut_syn_HGVS
c.1256G>T
cdna_numb_HGVS
1256
cdna_numb_legacy
1256
nt_change
G>T
n_bp
1
nuc_numb
1256
g_numb
g16
aa_numb_HGVS
419
aa_numb_legacy
419
aa_first
Gly
aa_last
Val
aa_syn
p.Gly419Val
codon_first
GGG
codon_last
GTG
coordinate_GRCh38
133433652
gnomAD_AC
1
gnomAD_AN
1613860
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 38

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
10 56 72 38 cTTP compound_heterozygous China female 26 26 1.1 6 yes pregnancy on-demand PI