Variant detail

mut_id 61 · c.1305delT · p.Thr435Serfs*

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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

Deletion Deletion Residue 435 AlphaMissense key T435S
HGVS
c.1305delT
Protein change
p.Thr435Serfs*
GRCh38 coordinate
133433701
Location
exon 11
Domain
TSP type-1 1
Gene
ADAMTS13

External links

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

Amino-acid property change

Residue substitution
T → S at 435
AlphaMissense score
0.1086
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.7 → -0.8
Molecular weight
119.1 → 105.0
Original residue details
T · threonine
code: Thr
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 435 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.1305delT
cdna_numb_HGVS
1305
cdna_numb_legacy
1305
nt_change
Deletion
nuc_numb
1305
g_numb
g16
aa_numb_HGVS
435
aa_numb_legacy
435
aa_first
Thr
aa_last
Ser
aa_syn
p.Thr435Serfs*
coordinate_GRCh38
133433701
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71

Patients linked by mut_id

No linked patients found.