Variant detail

mut_id 128 · c.3047G>A · p.Trp1016Ter

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Evidence at a glance

0
Linked patients
0
Patient-variant records
2
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point nonsense_variant Residue 1016
HGVS
c.3047G>A
Protein change
p.Trp1016Ter
GRCh38 coordinate
133454417
Location
exon 24
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

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
[Thrombotic thrombocytopenic purpura in a newborn]
Authors: Sudour H, Rouabah M, Mansuy L, Bordigoni P, Hascoet JM.
Source: Arch Pediatr (2007)
Citation: Arch Pediatr. 2007 Jan;14(1):39-42. doi: 10.1016/j.arcped.2006.10.016. Epub 2006 Nov 28.
PubMed: 17137768 · DOI: 10.1016/j.arcped.2006.10.016

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 1016 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3047G>A
cdna_numb_HGVS
3047
cdna_numb_legacy
3047
nt_change
G>A
n_bp
1
nuc_numb
3047
g_numb
g16
aa_numb_HGVS
1016
aa_numb_legacy
1016
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp1016Ter
codon_first
TGG
codon_last
TAG
coordinate_GRCh38
133454417
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
72, 163, 332

Patients linked by mut_id

No linked patients found.