Variant detail

mut_id 259 · c.3616C>T · p.Arg1206Ter

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Evidence at a glance

5
Linked patients
5
Patient-variant records
8
Linked references
3
Countries reported
cTTP (5)
Common phenotype
compound_heterozygous (5)
Common zygosity

Summary

Point nonsense_variant Pathogenic Residue 120
HGVS
c.3616C>T
Protein change
p.Arg1206Ter
rsID
rs782818582
ClinVar ID
2735365
Location
exon 26
gnomAD AF
0.00000805
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

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
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
[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017
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
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3
The impact of congenital thrombotic thrombocytopenic purpura on pregnancy complications
Authors: von Krogh AS, Kremer Hovinga JA, Tjønnfjord GE, Ringen IM, Lämmle B, Waage A, Quist-Paulsen P.
Source: Thromb Haemost (2014)
Citation: Thromb Haemost. 2014 Jun;111(6):1180-3. doi: 10.1160/TH13-08-0713. Epub 2014 Feb 6.
PubMed: 24499950 · DOI: 10.1160/TH13-08-0713
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
Authors: Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio Mannucci P.
Source: Hum Mutat (2006)
Citation: Hum Mutat. 2006 Apr;27(4):330-6. doi: 10.1002/humu.20267.
PubMed: 16453338 · DOI: 10.1002/humu.20267

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 120 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (3); UK (1); Switzerland (1)
Phenotype
cTTP (5)
Zygosity
compound_heterozygous (5)
Sex
male (3); female (2)
Pregnancy-related
no (4); yes (1)
Triggers
none (2); unknown (1); infection (1); pregnancy (1)
Treatment
unknown (4); PI (1)
ADAMTS13 activity
n=3; median=0.5; range=0.5–1
Age of onset
n=1; median=3; range=3–3
Age of diagnosis
n=3; median=45; range=31–57
Platelet count
n=1; median=19; range=19–19

Variant fields

mut_syn_HGVS
c.3616C>T
cdna_numb_HGVS
3616
cdna_numb_legacy
3616
nt_change
C>T
n_bp
1
nuc_numb
3616
g_numb
g16
aa_numb_HGVS
120
aa_numb_legacy
120
aa_first
Arg
aa_last
Ter
aa_syn
p.Arg1206Ter
codon_first
CGA
codon_last
TGA
gnomAD_AC
13
gnomAD_AN
1613236
gnomAD_AF
0.00000805
clinvar_id
2735365
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
48, 71, 72, 93, 205, 239, 241, 274, 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
109 259 32 93 cTTP compound_heterozygous Japan male unknown unknown <0.5 unknown no unknown unknown
164 259 52 241 cTTP compound_heterozygous Japan female 3 45 <0.5 19 no infection unknown
178 259 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
233 259 32 274 cTTP compound_heterozygous Japan male unknown 31 unknown unknown no none unknown
370 259 133 48 cTTP compound_heterozygous Switzerland male unknown 57 <1 unknown no none PI