Variant detail
mut_id 93 · c.2063delG · p.Trp688Ter
Evidence at a glance
1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
homozygous (1)
Common zygosity
Summary
Deletion nonsense_variant Residue 688
HGVS
c.2063delG
Protein change
p.Trp688Ter
rsID
rs1554791108
GRCh38 coordinate
133442493
Location
exon 17
gnomAD AF
6.20E-07
Domain
TSP type-1 2
Gene
ADAMTS13
References
A rare pathogenic MCP mutation in patient with congenital TTP
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 688 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.
Patient summary
Countries represented
India (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
Not available
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=1; median=40; range=40–40
Variant fields
mut_syn_HGVS
c.2063delG
cdna_numb_HGVS
2063
cdna_numb_legacy
2063
nt_change
Deletion
n_bp
1
nuc_numb
2063
g_numb
g16
aa_numb_HGVS
688
aa_numb_legacy
688
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp688Ter
codon_first
TGG
codon_last
TAG
coordinate_GRCh38
133442493
gnomAD_AC
1
gnomAD_AN
1613698
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
32
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| 8 | 93 | . | 32 | cTTP | homozygous | India | female | <1 | <1 | unknown | 40 | no | none | PI |