Variant detail

mut_id 257 · c.3313C>T · p.Gln1105Ter

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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 110
HGVS
c.3313C>T
Protein change
p.Gln1105Ter
Location
exon 25
gnomAD AF
6.21E-07
Domain
Metalloprotease
Gene
ADAMTS13

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

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 110 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.3313C>T
cdna_numb_HGVS
3313
cdna_numb_legacy
3313
nt_change
C>T
n_bp
1
nuc_numb
3313
g_numb
g16
aa_numb_HGVS
110
aa_numb_legacy
110
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln1105Ter
codon_first
CAG
codon_last
TAG
gnomAD_AC
1
gnomAD_AN
1610814
gnomAD_AF
6.21E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
7, 139

Patients linked by mut_id

No linked patients found.