Variant detail

mut_id 347 · c.2728C>T · p.Arg910Ter

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Evidence at a glance

8
Linked patients
8
Patient-variant records
8
Linked references
3
Countries reported
cTTP (8)
Common phenotype
compound_heterozygous (7)
Common zygosity

Summary

Point nonsense_variant Residue 910
HGVS
c.2728C>T
Protein change
p.Arg910Ter
rsID
rs781844824
Location
exon 21
gnomAD AF
0.00000823
Domain
TSP type-1 5
Gene
ADAMTS13

External links

dbSNP

References

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
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796
Clinical characteristics and outcomes of thrombotic microangiopathy in Malaysia
Authors: Yap YY, Sathar J, Law KB, Zulkurnain PAB, Edmund SC, Chang KM, Baker R.
Source: Blood Res (2018)
Citation: Blood Res. 2018 Jun;53(2):130-137. doi: 10.5045/br.2018.53.2.130. Epub 2018 Jun 25.
PubMed: 29963519 · DOI: 10.5045/br.2018.53.2.130
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism
Authors: Lee AC.
Source: Ann Acad Med Singap (2012)
Citation: Ann Acad Med Singap. 2012 Jul;41(7):305-8.
PubMed: 22892608
Congenital thrombotic thrombocytopenic purpura in association with a mutation in the second CUB domain of ADAMTS13
Authors: Pimanda JE, Maekawa A, Wind T, Paxton J, Chesterman CN, Hogg PJ.
Source: Blood (2004)
Citation: Blood. 2004 Jan 15;103(2):627-9. doi: 10.1182/blood-2003-04-1346. Epub 2003 Sep 25.
PubMed: 14512317 · DOI: 10.1182/blood-2003-04-1346
Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
Authors: Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F.
Source: Acta Paediatr (2002)
Citation: Acta Paediatr. 2002;91(10):1056-9. doi: 10.1080/080352502760311548.
PubMed: 12434890 · DOI: 10.1080/080352502760311548
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Authors: Maragliano R, Perrot A, Loget P, Combescure C, Belhomme N, Faoucher M, Dubourg C, Fradin M, Collardeau-Frachon S
Source: Virchows Arch (2025)
Citation: Virchows Arch. 2025 Aug 4. doi: 10.1007/s00428-025-04200-8
PubMed: 40760196 · DOI: 10.1007/s00428-025-04200-8

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 910 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (4); UK (3); Pakistan (1)
Phenotype
cTTP (8)
Zygosity
compound_heterozygous (7); homozygous (1)
Sex
male (4); female (2); unknown (2)
Pregnancy-related
no (6); unknown (2)
Triggers
none (8)
Treatment
PI (5); unknown (2); none (1)
ADAMTS13 activity
n=6; median=5; range=2–10
Age of onset
n=8; median=1.5; range=1–3
Age of diagnosis
n=3; median=3; range=3–7
Platelet count
n=1; median=8; range=8–8

Variant fields

mut_syn_HGVS
c.2728C>T
cdna_numb_HGVS
2728
cdna_numb_legacy
2728
nt_change
C>T
n_bp
1
nuc_numb
2728
g_numb
g16
aa_numb_HGVS
910
aa_numb_legacy
910
aa_first
Arg
aa_last
Ter
aa_syn
p.Arg910Ter
codon_first
CGA
codon_last
TGA
gnomAD_AC
13
gnomAD_AN
1578650
gnomAD_AF
0.00000823
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
71, 72, 80, 138, 181, 186, 305, 317, 332

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
123 347 . 80 cTTP homozygous Pakistan female <1 7 10 8 no none PI
246 347 49 305 cTTP compound_heterozygous Germany female 2 3 unknown unknown no none none
251 347 273 305 cTTP compound_heterozygous Germany male 3 3 <2 unknown no none PI
342 347 49 186 cTTP compound_heterozygous Germany unknown 2 unknown unknown unknown unknown none unknown
347 347 273 186 cTTP compound_heterozygous Germany unknown 3 unknown <2 unknown unknown none unknown
356 347 241 138 cTTP compound_heterozygous UK male <1 unknown <5 unknown no none PI
357 347 241 138 cTTP compound_heterozygous UK male <1 unknown <5 unknown no none PI
358 347 241 138 cTTP compound_heterozygous UK male <1 unknown <5 unknown no none PI