Variant detail

mut_id 18 · c.427A>T · p.Ile143Phe

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Evidence at a glance

3
Linked patients
3
Patient-variant records
2
Linked references
1
Countries reported
cTTP (3)
Common phenotype
homozygous (3)
Common zygosity

Summary

Point missense_variant Residue 143 AlphaMissense key I143F
HGVS
c.427A>T
Protein change
p.Ile143Phe
GRCh38 coordinate
133425950
Location
exon 5
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

Patent ductus arteriosus generates neonatal hemolytic jaundice with thrombocytopenia in Upshaw-Schulman syndrome
Authors: Fujimura Y, Lämmle B, Tanabe S, Sakai K, Kimura T, Kokame K, Miyata T, Takahashi Y, Taniguchi S, Matsumoto M.
Source: Blood Adv (2019)
Citation: Blood Adv. 2019 Nov 12;3(21):3191-3195. doi: 10.1182/bloodadvances.2019000601.
PubMed: 31698449 · DOI: 10.1182/bloodadvances.2019000601
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 → F at 143
AlphaMissense score
0.3202
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → large (unchanged)
Residue type
aliphatic → aromatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
4.5 → 2.8
Molecular weight
131.2 → 165.2
Original residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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
Italy (3)
Phenotype
cTTP (3)
Zygosity
homozygous (3)
Sex
female (2); male (1)
Pregnancy-related
yes (2); no (1)
Triggers
pregnancy (2); infection (1)
Treatment
on-demand PI (2); unknown (1)
ADAMTS13 activity
n=3; median=6; range=1–6
Age of onset
n=3; median=18; range=1–21
Age of diagnosis
n=1; median=57; range=57–57
Platelet count
n=1; median=11; range=11–11

Variant fields

mut_syn_HGVS
c.427A>T
cdna_numb_HGVS
427
cdna_numb_legacy
427
nt_change
A>T
n_bp
1
nuc_numb
427
g_numb
g16
aa_numb_HGVS
143
aa_numb_legacy
143
aa_first
Ile
aa_last
Phe
aa_syn
p.Ile143Phe
codon_first
ATC
codon_last
TTC
coordinate_GRCh38
133425950
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
215, 233

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
160 18 . 215 cTTP homozygous Italy female 1 57 <1 11 yes pregnancy unknown
213 18 . 233 cTTP homozygous Italy female 21 unknown <6 unknown yes pregnancy on-demand PI
214 18 . 233 cTTP homozygous Italy male 18 unknown <6 unknown no infection on-demand PI