Variant detail

mut_id 19 · c.428T>C · p.Ile143Thr

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Evidence at a glance

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

Summary

Point missense_variant Residue 143 AlphaMissense key I143T
HGVS
c.428T>C
Protein change
p.Ile143Thr
GRCh38 coordinate
133425951
Location
exon 5
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

An unusual case of rapidly progressive hyperbilirubinemia
Authors: Thornton KM, Nyp MF, Music Aplenc L, Jones GL, Carpenter SL, Guest EM, Shapiro SM, Manimtim WM.
Source: Case Rep Pediatr (2013)
Citation: Case Rep Pediatr. 2013;2013:284029. doi: 10.1155/2013/284029. Epub 2013 Oct 29.
PubMed: 24288641 · DOI: 10.1155/2013/284029
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
I → T at 143
AlphaMissense score
0.8382
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
4.5 → -0.7
Molecular weight
131.2 → 119.1
Original residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
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 143 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Turkey (2)
Phenotype
cTTP (2)
Zygosity
homozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
unknown (1); infection (1)
Treatment
PI (2)
ADAMTS13 activity
n=2; median=6; range=6–6
Age of onset
n=2; median=7; range=7–7
Age of diagnosis
n=2; median=13; range=13–13
Platelet count
n=1; median=25; range=25–25

Variant fields

mut_syn_HGVS
c.428T>C
cdna_numb_HGVS
428
cdna_numb_legacy
428
nt_change
T>C
n_bp
1
nuc_numb
428
g_numb
g16
aa_numb_HGVS
143
aa_numb_legacy
143
aa_first
Ile
aa_last
Thr
aa_syn
p.Ile143Thr
codon_first
ATC
codon_last
ACC
coordinate_GRCh38
133425951
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
118, 233, 321

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
91 19 . 118 cTTP homozygous Turkey male 7 13 <6 25 no unknown PI
209 19 . 233 cTTP homozygous Turkey male 7 13 <6 unknown no infection PI