Variant detail

mut_id 143 · c.3421delC · p.His1141Thrfs*85

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Evidence at a glance

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

Summary

Deletion Deletion Residue 1141 AlphaMissense key H1141T
HGVS
c.3421delC
Protein change
p.His1141Thrfs*85
GRCh38 coordinate
133455456
Location
exon 25
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

gnomAD

References

[Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years]
Authors: Zeng MH, He XL, Tian X, Huang YH.
Source: Zhongguo Dang Dai Er Ke Za Zhi (2021)
Citation: Zhongguo Dang Dai Er Ke Za Zhi. 2021 May;23(5):524-529. doi: 10.7499/j.issn.1008-8830.2101085.
PubMed: 34020745 · DOI: 10.7499/j.issn.1008-8830.2101085
Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Amino-acid property change

Residue substitution
H → T at 1141
AlphaMissense score
0.1173
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic/basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.2 → -0.7
Molecular weight
155.2 → 119.1
Original residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic
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 1141 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (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=4.8; range=4.8–4.8
Age of onset
n=1; median=28; range=28–28
Age of diagnosis
n=1; median=28; range=28–28
Platelet count
n=1; median=15; range=15–15

Variant fields

mut_syn_HGVS
c.3421delC
nt_change
Deletion
g_numb
g16
aa_numb_HGVS
1141
aa_numb_legacy
1141
aa_first
His
aa_last
Thr
aa_syn
p.His1141Thrfs*85
coordinate_GRCh38
133455456
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
42, 71, 205

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
13 143 279 42 cTTP compound_heterozygous Japan female 28 28 4.8 15 yes pregnancy unknown