Variant detail

mut_id 268 · c.3904C>T · p.Gln1302Ter

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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 Residue 130
HGVS
c.3904C>T
Protein change
p.Gln1302Ter
rsID
rs2130956441
GRCh38 coordinate
133457921
Location
exon 28
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

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

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

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3904C>T
cdna_numb_HGVS
3904
cdna_numb_legacy
3904
nt_change
C>T
n_bp
1
nuc_numb
3904
g_numb
g16
aa_numb_HGVS
130
aa_numb_legacy
130
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln1302Ter
codon_first
CAG
codon_last
TAG
coordinate_GRCh38
133457921
gnomAD_AC
1
gnomAD_AN
1613832
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71

Patients linked by mut_id

No linked patients found.