Variant detail

mut_id 379 · c.3287G>A · p.Arg1096His

Back Advanced search Full table

Evidence at a glance

1
Linked patients
1
Patient-variant records
1
Linked references
1
Countries reported
cTTP (1)
Common phenotype
heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 1096 AlphaMissense key R1096H
HGVS
c.3287G>A
Protein change
p.Arg1096His
Domain
TSP type-1 8
Gene
ADAMTS13

References

Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome
Authors: Itami H, Hara S, Matsumoto M, Imamura S, Kanai R, Nishiyama K, Ishimura M, Ohga S, Yoshida M, Tanaka R, Ogawa Y, Asada Y, Sekita-Hatakeyama Y, Hatakeyama K, Ohbayashi C.
Source: Thromb Res (2018)
Citation: Thromb Res. 2018 Oct;170:148-155. doi: 10.1016/j.thromres.2018.08.020. Epub 2018 Sep 1.
PubMed: 30195146 · DOI: 10.1016/j.thromres.2018.08.020

Amino-acid property change

Residue substitution
R → H at 1096
AlphaMissense score
0.0642
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → postive (unchanged)
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → aromatic/basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.2
Molecular weight
174.2 → 155.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/basic

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 1096 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Portugal (1)
Phenotype
cTTP (1)
Zygosity
heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=28; range=28–28
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3287G>A
cdna_numb_HGVS
3287
cdna_numb_legacy
3287
nt_change
G>A
n_bp
1
nuc_numb
3287
g_numb
g16
aa_numb_HGVS
1096
aa_numb_legacy
1096
aa_first
Arg
aa_last
His
aa_syn
p.Arg1096His
g_id
g16
g_name
ADAMTS13
ref_id
78

Patients linked by mut_id

patient_id mut_id compound_partner_mut_id ref_id phenotype zygosity country sex age_of_onset age_of_diagnosis ad13_activity platelet_count pregnancy_related triggers treatment
324 379 . 78 cTTP heterozygous Portugal female 28 unknown <10 unknown no infection PI