Variant detail

mut_id 101 · c.2203G>T · p.Glu735Ter

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Evidence at a glance

2
Linked patients
2
Patient-variant records
4
Linked references
2
Countries reported
cTTP (2)
Common phenotype
homozygous (2)
Common zygosity

Summary

Point nonsense_variant Residue 735
HGVS
c.2203G>T
Protein change
p.Glu735Ter
GRCh38 coordinate
133442712
Location
exon 18
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

gnomAD

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
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679
Treatment of Congenital Thrombotic Thrombocytopenic Purpura With Eculizumab
Authors: Pecoraro C, Ferretti AV, Rurali E, Galbusera M, Noris M, Remuzzi G.
Source: Am J Kidney Dis (2015)
Citation: Am J Kidney Dis. 2015 Dec;66(6):1067-70. doi: 10.1053/j.ajkd.2015.06.032. Epub 2015 Sep 26.
PubMed: 26409664 · DOI: 10.1053/j.ajkd.2015.06.032
Long term follow up of congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) on hemodialysis for 19 years: a case report
Authors: Mise K, Ubara Y, Matsumoto M, Sumida K, Hiramatsu R, Hasegawa E, Yamanouchi M, Hayami N, Suwabe T, Hoshino J, Sawa N, Ohashi K, Kokame K, Miyata T, Fujimura Y, Takaichi K.
Source: BMC Nephrol (2013)
Citation: BMC Nephrol. 2013 Jul 20;14:156. doi: 10.1186/1471-2369-14-156.
PubMed: 23870247 · DOI: 10.1186/1471-2369-14-156

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 735 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
India (1); Tunisia (1)
Phenotype
cTTP (2)
Zygosity
homozygous (2)
Sex
female (1); male (1)
Pregnancy-related
no (2)
Triggers
none (2)
Treatment
none (1); PI (1)
ADAMTS13 activity
n=2; median=3; range=1–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=2; median=1.5; range=1–2
Platelet count
n=2; median=18.5; range=9–28

Variant fields

mut_syn_HGVS
c.2203G>T
cdna_numb_HGVS
2203
cdna_numb_legacy
2203
nt_change
G>T
n_bp
1
nuc_numb
2203
g_numb
g16
aa_numb_HGVS
735
aa_numb_legacy
735
aa_first
Glu
aa_last
Ter
aa_syn
p.Glu735Ter
codon_first
GAG
codon_last
TAG
coordinate_GRCh38
133442712
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 76, 99, 123

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
49 101 . 99 cTTP homozygous India female <1 <1 <1 28 no none none
112 101 . 123 cTTP homozygous Tunisia male <1 2 <5 9 no none PI