Variant detail

mut_id 350 · c.2914C>T · p.Arg972Trp

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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 972 AlphaMissense key R972W
HGVS
c.2914C>T
Protein change
p.Arg972Trp
rsID
rs782315945
Location
exon 23
gnomAD AF
0.00001115
Domain
TSP type-1 6
Gene
ADAMTS13

External links

dbSNP

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 → W at 972
AlphaMissense score
0.1071
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → large (unchanged)
Residue type
basic → aromatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → -0.9
Molecular weight
174.2 → 204.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 972 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
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=25; range=25–25
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2914C>T
cdna_numb_HGVS
2914
cdna_numb_legacy
2914
nt_change
C>T
n_bp
1
nuc_numb
2914
g_numb
g16
aa_numb_HGVS
972
aa_numb_legacy
972
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg972Trp
codon_first
CGG
codon_last
TGG
gnomAD_AC
18
gnomAD_AN
1613892
gnomAD_AF
0.00001115
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
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
322 350 . 78 cTTP heterozygous Portugal female 25 unknown <10 unknown no infection PI