Variant detail

mut_id 108 · c.2434G>T · p.Glu812Ter

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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 missense_variant Residue 812
HGVS
c.2434G>T
Protein change
p.Glu812Ter
GRCh38 coordinate
133444876
Location
exon 20
Domain
TSP type-1 4
Gene
ADAMTS13

External links

gnomAD

References

NEPHRO-ZEBRA-a neonate with severe jaundice, persistent thrombocytopenia & recurrent acute kidney injury later in childhood: Joining the dots!
Authors: Sethi SK, Yadav SP, Moideen A, Raina R.
Source: J Nephrol (2024)
Citation: J Nephrol. 2024 Apr;37(3):827-829. doi: 10.1007/s40620-023-01848-w. Epub 2024 Jan 25.
PubMed: 38267796 · DOI: 10.1007/s40620-023-01848-w
A phenotype-genotype correlation of ADAMTS13 mutations in congenital thrombotic thrombocytopenic purpura patients treated in the United Kingdom
Authors: Camilleri RS, Scully M, Thomas M, Mackie IJ, Liesner R, Chen WJ, Manns K, Machin SJ.
Source: J Thromb Haemost (2012)
Citation: J Thromb Haemost. 2012 Sep;10(9):1792-801. doi: 10.1111/j.1538-7836.2012.04852.x.
PubMed: 22783805 · DOI: 10.1111/j.1538-7836.2012.04852.x

Amino-acid property change

Residue substitution
E → * at 812
AlphaMissense score
Not available
Available for missense amino-acid substitutions only.
Hydrophobicity
hydrophilic → Unknown
Charge
negative → Unknown
Polarity
polar → Unknown
Size
large → Unknown
Residue type
acidic → Unknown
Typical protein position
surface → Unknown
Hydropathy index
-3.5 → Unknown
Molecular weight
147.1 → Unknown
Original residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic

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 812 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 4
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.2434G>T
cdna_numb_HGVS
2434
cdna_numb_legacy
2434
nt_change
G>T
n_bp
1
nuc_numb
2434
g_numb
g16
aa_numb_HGVS
812
aa_numb_legacy
812
aa_first
Glu
aa_last
Ter
aa_syn
p.Glu812Ter
codon_first
GAG
codon_last
TAG
coordinate_GRCh38
133444876
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 139

Patients linked by mut_id

No linked patients found.