Variant detail

mut_id 12 · c.291_319del · p.Glu98ProfsTer31

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Evidence at a glance

4
Linked patients
4
Patient-variant records
3
Linked references
1
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Deletion frameshift_variant Pathogenic Residue 98 AlphaMissense key E98P
HGVS
c.291_319del
Protein change
p.Glu98ProfsTer31
rsID
rs387906345
ClinVar ID
5820
GRCh38 coordinate
133424430
Location
exon 3
gnomAD AF
0.00000123
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

First reported case of congenital thrombotic thrombocytopenic purpura in Taiwan with novel mutation of ADAMTS13 gene
Authors: Chou SC, Lin DT, Lin CY, Huang YC, Hsieh HN, Shen MC.
Source: Int J Hematol (2021)
Citation: Int J Hematol. 2021 May;113(5):760-764. doi: 10.1007/s12185-020-03068-5. Epub 2021 Jan 2.
PubMed: 33387295 · DOI: 10.1007/s12185-020-03068-5
Effects of naturally occurring mutations in CUB-1 domain on synthesis, stability, and activity of ADAMTS-13
Authors: Zhou Z, Jing H, Tao Z, Choi H, Aboulfatova K, Moake J, Li R, Dong JF.
Source: Thromb Res (2009)
Citation: Thromb Res. 2009 Jul;124(3):323-7. doi: 10.1016/j.thromres.2008.09.007. Epub 2008 Nov 21.
PubMed: 19027144 · DOI: 10.1016/j.thromres.2008.09.007
PB1581 | Adult Onset Hereditary Thrombotic Thrombocytopenic Purpura (TTP) with a Novel ADAMTS13 Mutation
Authors: J.M. Freue 1 ; B. Rosales Ostriz 1 ; M. Martin 2 ; R.M. Campestri 1
Source: ISTH 2019 (2019)
Citation: ISTH2019
PubMed: ISTH 2019

Amino-acid property change

Residue substitution
E → P at 98
AlphaMissense score
0.4444
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
negative → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
acidic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -1.6
Molecular weight
147.1 → 115.1
Original residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 98 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Turkey (4)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (4)
Sex
male (3); female (1)
Pregnancy-related
no (2)
Triggers
none (3); infection (1)
Treatment
PI (2); unknown (2)
ADAMTS13 activity
n=4; median=6; range=1–20
Age of onset
n=3; median=15; range=4–22
Age of diagnosis
n=3; median=20; range=12–22
Platelet count
n=2; median=14.5; range=11–18

Variant fields

mut_syn_HGVS
c.291_319del
cdna_numb_HGVS
291
cdna_numb_legacy
291
nt_change
Deletion
n_bp
29
nuc_numb
291
g_numb
g16
aa_numb_HGVS
98
aa_numb_legacy
98
aa_first
Glu
aa_last
Pro
aa_syn
p.Glu98ProfsTer31
codon_first
GCTCACCAGGAGGACACAGAGCGCTATGTGCTCACCA
codon_last
G
coordinate_GRCh38
133424430
gnomAD_AC
2
gnomAD_AN
1613902
gnomAD_AF
0.00000123
clinvar_id
5820
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
47, 265, 310

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
17 12 273 47 cTTP compound_heterozygous Turkey male 4 12 <1 18 no none PI
236 12 273 265 cTTP compound_heterozygous Turkey male 15 20 <6 11 infection PI
237 12 273 265 cTTP compound_heterozygous Turkey female 22 22 <6 unknown none unknown
295 12 273 310 cTTP compound_heterozygous Turkey male unknown unknown <20 unknown no none unknown