Variant detail

mut_id 241 · c.719_724del · p.Gly241_Cys242del

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Evidence at a glance

5
Linked patients
5
Patient-variant records
3
Linked references
1
Countries reported
cTTP (5)
Common phenotype
compound_heterozygous (5)
Common zygosity

Summary

Deletion Deletion
HGVS
c.719_724del
Protein change
p.Gly241_Cys242del
Location
exon 7
Domain
Not available
Gene
ADAMTS13

References

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
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
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

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

Patient summary

Countries represented
UK (5)
Phenotype
cTTP (5)
Zygosity
compound_heterozygous (5)
Sex
male (3); female (2)
Pregnancy-related
no (3); yes (2)
Triggers
none (3); pregnancy (2)
Treatment
PI (3); unknown (2)
ADAMTS13 activity
n=4; median=5; range=5–5
Age of onset
n=4; median=1; range=1–20
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.719_724del
nt_change
Deletion
n_bp
5
g_numb
g16
aa_first
Gly
aa_last
Cys
aa_syn
p.Gly241_Cys242del
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72, 138, 239

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
173 241 333 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
353 241 333 138 cTTP compound_heterozygous UK female 20 unknown <5 unknown yes pregnancy unknown
356 241 347 138 cTTP compound_heterozygous UK male <1 unknown <5 unknown no none PI
357 241 347 138 cTTP compound_heterozygous UK male <1 unknown <5 unknown no none PI
358 241 347 138 cTTP compound_heterozygous UK male <1 unknown <5 unknown no none PI