Variant detail

mut_id 149 · c.3628C>T · p.Gln1210Ter

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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 missense_variant Residue 1210
HGVS
c.3628C>T
Protein change
p.Gln1210Ter
Location
exon 26
Domain
CUB 1
Gene
ADAMTS13

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

Amino-acid property change

Residue substitution
Q → * at 1210
AlphaMissense score
Not available
Available for missense amino-acid substitutions only.
Hydrophobicity
hydrophilic → Unknown
Charge
neutral → Unknown
Polarity
polar → Unknown
Size
large → Unknown
Residue type
Not available
Typical protein position
surface → Unknown
Hydropathy index
-3.5 → Unknown
Molecular weight
146.1 → Unknown
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:

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 1210 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3628C>T
cdna_numb_HGVS
3628
cdna_numb_legacy
3628
nt_change
C>T
n_bp
1
nuc_numb
3628
g_numb
g16
aa_numb_HGVS
1210
aa_numb_legacy
1210
aa_first
Gln
aa_last
Ter
aa_syn
p.Gln1210Ter
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71

Patients linked by mut_id

No linked patients found.