Variant detail

mut_id 148 · c.3567G>A · p.Trp1189Ter

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point nonsense_variant Pathogenic Residue 1189
HGVS
c.3567G>A
Protein change
p.Trp1189Ter
ClinVar ID
2735366
GRCh38 coordinate
133456562
Location
exon 27
gnomAD AF
6.8435E-07
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

ClinVar gnomAD

References

Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure
Authors: Shibagaki Y, Matsumoto M, Kokame K, Ohba S, Miyata T, Fujimura Y, Fujita T.
Source: Nephrol Dial Transplant (2006)
Citation: Nephrol Dial Transplant. 2006 May;21(5):1289-92. doi: 10.1093/ndt/gfk072. Epub 2006 Jan 31.
PubMed: 16449289 · DOI: 10.1093/ndt/gfk072

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 1189 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3567G>A
cdna_numb_HGVS
3567
cdna_numb_legacy
3567
nt_change
G>A
n_bp
1
nuc_numb
3567
g_numb
g16
aa_numb_HGVS
1189
aa_numb_legacy
1189
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp1189Ter
codon_first
TGG
codon_last
TGA
coordinate_GRCh38
133456562
gnomAD_AF
6.8435E-07
clinvar_id
2735366
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
275

Patients linked by mut_id

No linked patients found.