Variant detail

mut_id 124 · c.2930_2935delGTGCCC

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Evidence at a glance

5
Linked patients
5
Patient-variant records
3
Linked references
2
Countries reported
cTTP (5)
Common phenotype
homozygous (5)
Common zygosity

Summary

Deletion Deletion Residue 977
HGVS
c.2930_2935delGTGCCC
GRCh38 coordinate
133449851
Location
exon 23
Domain
TSP type-1 6
Gene
ADAMTS13

External links

gnomAD

References

Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
Authors: Enjeti AK, Chapman K, Taylor PJ, Meldrum C.
Source: Pathology (2015)
Citation: Pathology. 2015 Oct;47(6):585-6. doi: 10.1097/PAT.0000000000000303.
PubMed: 26352112 · DOI: 10.1097/PAT.0000000000000303
Inherited thrombotic thrombocytopenic purpura
Authors: Galbusera M, Noris M, Remuzzi G.
Source: Haematologica (2009)
Citation: Haematologica. 2009 Feb;94(2):166-70. doi: 10.3324/haematol.2008.002493.
PubMed: 19181790 · DOI: 10.3324/haematol.2008.002493
PB1581 | Adult Onset Hereditary Thrombotic Thrombocytopenic Purpura (TTP) with a Novel ADAMTS13 Mutation
Authors: J.M. Freue 1 ; B. Rosales Ostriz 1 ; M. Martin 2 ; R.M. Campestri 1
Source: ISTH 2019 (2019)
Citation: ISTH2019
PubMed: ISTH 2019

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 977 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Iran (4); Italy (1)
Phenotype
cTTP (5)
Zygosity
homozygous (5)
Sex
male (4); female (1)
Pregnancy-related
no (5)
Triggers
none (5)
Treatment
on-demand PI (2); unknown (2); PI (1)
ADAMTS13 activity
n=5; median=6; range=6–20
Age of onset
n=3; median=23; range=23–29
Age of diagnosis
n=2; median=23; range=23–23
Platelet count
n=3; median=20; range=20–29

Variant fields

mut_syn_HGVS
c.2930_2935delGTGCCC
cdna_numb_HGVS
2930
cdna_numb_legacy
2930
nt_change
Deletion
n_bp
6
nuc_numb
2930
g_numb
g16
aa_numb_HGVS
977
aa_numb_legacy
977
coordinate_GRCh38
133449851
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
233, 263, 310

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
208 124 . 233 cTTP homozygous Italy male 23 23 <6 20 no none on-demand PI
238 124 . 263 cTTP homozygous Iran male 23 23 <6 20 no none PI
239 124 . 263 cTTP homozygous Iran male 29 unknown <6 29 no none on-demand PI
240 124 . 263 cTTP homozygous Iran female unknown unknown <6 unknown no none unknown
296 124 . 310 cTTP homozygous Iran male unknown unknown <20 unknown no none unknown