Variant detail

mut_id 255 · c.3283C>T · p.Arg1095Trp

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Evidence at a glance

4
Linked patients
4
Patient-variant records
6
Linked references
4
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point missense_variant Uncertain significance Residue 109 AlphaMissense key R109W
HGVS
c.3283C>T
Protein change
p.Arg1095Trp
rsID
rs782383410
ClinVar ID
3496730
Location
exon 25
gnomAD AF
0.00000435
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
Authors: Toret E, Demir-Kolsuz O, Ozdemir ZC, Bor O.
Source: J Pediatr Hematol Oncol (2022)
Citation: J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e243-e245. doi: 10.1097/MPH.0000000000002032.
PubMed: 33306605 · DOI: 10.1097/MPH.0000000000002032
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796
Two novel heterozygote missense mutations of the ADAMTS13 gene in a child with recurrent thrombotic thrombocytopenic purpura
Authors: Rossio R, Ferrari B, Cairo A, Mancini I, Pisapia G, Palazzo G, Peyvandi F.
Source: Blood Transfus (2013)
Citation: Blood Transfus. 2013 Apr;11(2):241-4. doi: 10.2450/2012.0029-12. Epub 2012 Sep 12.
PubMed: 23058857 · DOI: 10.2450/2012.0029-12
Thrombotic thrombocytopenic purpura associated with von Willebrand factor-cleaving protease (ADAMTS13) deficiency in children
Authors: Loirat C, Veyradier A, Girma JP, Ribba AS, Meyer D.
Source: Semin Thromb Hemost (2006)
Citation: Semin Thromb Hemost. 2006 Mar;32(2):90-7. doi: 10.1055/s-2006-939764.
PubMed: 16575683 · DOI: 10.1055/s-2006-939764
PB0637 - A first care report of congenital thrombotic thrombocytopenic purpura (cTTP) in ADAMTS13 gene in Thailand
Source: ISTH 2024 (2024)
PubMed: ISTH 2024
Genotype–Phenotype Variability in Congenital Thrombotic Thrombocytopenic Purpura (TTP): Two Novel ADAMTS13 Variants
Authors: Radhakrishnan N, Pandharipande A S, Gaire H, et al.
Source: Cureus (2025)
Citation: Cureus 17(11): e97714
PubMed: 41458739 · DOI: 10.7759/cureus.97714

Amino-acid property change

Residue substitution
R → W at 109
AlphaMissense score
Not available
No local AlphaMissense row found for R109W.
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 109 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (1); Hungary (1); China (1); Switzerland (1)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (4)
Sex
female (4)
Pregnancy-related
yes (4)
Triggers
pregnancy (4)
Treatment
none (2); unknown (2)
ADAMTS13 activity
n=4; median=6.5; range=1–10
Age of onset
n=2; median=36; range=32–40
Age of diagnosis
n=2; median=34.5; range=32–37
Platelet count
n=1; median=42; range=42–42

Variant fields

mut_syn_HGVS
c.3283C>T
cdna_numb_HGVS
3283
cdna_numb_legacy
3283
nt_change
C>T
n_bp
1
nuc_numb
3283
g_numb
g16
aa_numb_HGVS
109
aa_numb_legacy
109
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg1095Trp
codon_first
CGG
codon_last
TGG
gnomAD_AC
7
gnomAD_AN
1606014
gnomAD_AF
0.00000435
clinvar_id
3496730
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
48, 72, 135, 168, 307, 319, 321

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
119 255 280 135 cTTP compound_heterozygous Italy female 32 32 <10 42 yes pregnancy none
244 255 57 307 cTTP compound_heterozygous Hungary female 40 unknown 8 unknown yes pregnancy unknown
291 255 179 319 cTTP compound_heterozygous China female unknown unknown <5 unknown yes pregnancy unknown
372 255 180 48 cTTP compound_heterozygous Switzerland female unknown 37 <1 unknown yes pregnancy none