Variant detail

mut_id 315 · c.1345C>T · p.Gln449Ter

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Evidence at a glance

5
Linked patients
5
Patient-variant records
6
Linked references
2
Countries reported
cTTP (5)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point nonsense_variant Residue 449
HGVS
c.1345C>T
Protein change
p.Gln449Ter
rsID
rs121908476
Location
exon 12
gnomAD AF
6.6203E-06
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP

References

A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
Authors: Toret E, Demir-Kolsuz O, Ozdemir ZC, Bor O.
Source: J Pediatr Hematol Oncol (2022)
Citation: J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e243-e245. doi: 10.1097/MPH.0000000000002032.
PubMed: 33306605 · DOI: 10.1097/MPH.0000000000002032
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
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
Authors: Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW.
Source: Blood (2003)
Citation: Blood. 2003 Mar 1;101(5):1845-50. doi: 10.1182/blood-2002-08-2399. Epub 2002 Oct 17.
PubMed: 12393505 · DOI: 10.1182/blood-2002-08-2399
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
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis
Authors: Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, Valsecchi C, Scherer SE, Hale W 4th, Muzny DM, Randi G, Rosendaal FR, Gibbs RA, Peyvandi F.
Source: J Thromb Haemost (2013)
Citation: J Thromb Haemost. 2013 Jul;11(7):1228-39. doi: 10.1111/jth.12291.
PubMed: 23648131 · DOI: 10.1111/jth.12291

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 449 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (3); Switzerland (2)
Phenotype
cTTP (5)
Zygosity
compound_heterozygous (4); homozygous (1)
Sex
female (3); male (2)
Pregnancy-related
no (3); unknown (2)
Triggers
unknown (2); none (2); infection (1)
Treatment
unknown (3); none (1); PI (1)
ADAMTS13 activity
n=5; median=0.5; range=0.5–1
Age of onset
n=3; median=2; range=1–16
Age of diagnosis
n=3; median=18; range=5–21
Platelet count
n=3; median=17; range=10–40

Variant fields

mut_syn_HGVS
c.1345C>T
cdna_numb_HGVS
1345
cdna_numb_legacy
1345
nt_change
C>T
n_bp
1
nuc_numb
1345
g_numb
g16
aa_numb_HGVS
449
aa_numb_legacy
449
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln449Ter
codon_first
CAG
codon_last
TAG
gnomAD_AC
1
gnomAD_AN
1586916
gnomAD_AF
6.6203E-06
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
48, 71, 187, 205, 214, 245

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
139 315 . 214 cTTP homozygous Japan female <2 unknown <0.5 40 unknown unknown unknown
153 315 229 214 cTTP compound_heterozygous Japan female <16 unknown <0.5 10 unknown unknown unknown
228 315 229 245 cTTP compound_heterozygous Japan female <1 5 <0.5 17 no infection none
365 315 269 48 cTTP compound_heterozygous Switzerland male unknown 21 <1 unknown no none unknown
366 315 269 48 cTTP compound_heterozygous Switzerland male unknown 18 <1 unknown no none PI