Variant detail

mut_id 269 · c.4006C>T · p.Arg1336Trp

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Evidence at a glance

6
Linked patients
6
Patient-variant records
5
Linked references
3
Countries reported
cTTP (6)
Common phenotype
compound_heterozygous (6)
Common zygosity

Summary

Point missense_variant Not provided Residue 133 AlphaMissense key R133W
HGVS
c.4006C>T
Protein change
p.Arg1336Trp
rsID
rs281875308
ClinVar ID
68821
GRCh38 coordinate
133458023
Location
exon 28
gnomAD AF
0.00001054
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

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
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
Mutation analysis and clinical implications of von Willebrand factor-cleaving protease deficiency
Authors: Assink K, Schiphorst R, Allford S, Karpman D, Etzioni A, Brichard B, van de Kar N, Monnens L, van den Heuvel L.
Source: Kidney Int (2003)
Citation: Kidney Int. 2003 Jun;63(6):1995-9. doi: 10.1046/j.1523-1755.63.6s.1.x.
PubMed: 12753286 · DOI: 10.1046/j.1523-1755.63.6s.1.x
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896
Risk of diagnostic delay in congenital thrombotic thrombocytopenic purpura
Authors: Ferrari B, Cairo A, Pagliari MT, Mancini I, Arcudi S, Peyvandi F.
Source: J Thromb Haemost (2019)
Citation: J Thromb Haemost. 2019 Apr;17(4):666-669. doi: 10.1111/jth.14409. Epub 2019 Mar 6.
PubMed: 30762934 · DOI: 10.1111/jth.14409

Amino-acid property change

Residue substitution
R → W at 133
AlphaMissense score
Not available
No local AlphaMissense row found for R133W.
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 133 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (2); Austria (2); Switzerland (2)
Phenotype
cTTP (6)
Zygosity
compound_heterozygous (6)
Sex
male (4); female (2)
Pregnancy-related
no (4); yes (1); unknown (1)
Triggers
none (5); pregnancy (1)
Treatment
unknown (5); PI (1)
ADAMTS13 activity
n=6; median=1.95; range=0.5–3
Age of onset
n=1; median=28; range=28–28
Age of diagnosis
n=3; median=21; range=18–28
Platelet count
n=1; median=21; range=21–21

Variant fields

mut_syn_HGVS
c.4006C>T
cdna_numb_HGVS
4006
cdna_numb_legacy
4006
nt_change
C>T
n_bp
1
nuc_numb
4006
g_numb
g16
aa_numb_HGVS
133
aa_numb_legacy
133
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg1336Trp
codon_first
CGG
codon_last
TGG
coordinate_GRCh38
133458023
gnomAD_AC
17
gnomAD_AN
1613338
gnomAD_AF
0.00001054
clinvar_id
68821
clinvar_classification
Not provided
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
48, 71, 182, 205, 216

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
161 269 51 216 cTTP compound_heterozygous Japan female 28 28 <0.5 21 yes pregnancy unknown
162 269 51 216 cTTP compound_heterozygous Japan female unknown unknown 2.9 unknown unknown none unknown
293 269 4 182 cTTP compound_heterozygous Austria male unknown unknown <3 unknown no none unknown
294 269 4 182 cTTP compound_heterozygous Austria male unknown unknown <3 unknown no none unknown
365 269 315 48 cTTP compound_heterozygous Switzerland male unknown 21 <1 unknown no none unknown
366 269 315 48 cTTP compound_heterozygous Switzerland male unknown 18 <1 unknown no none PI