Variant detail

mut_id 279 · c.577C>T · p.Arg193Trp

Back Advanced search Full table

Evidence at a glance

6
Linked patients
6
Patient-variant records
8
Linked references
2
Countries reported
cTTP (6)
Common phenotype
compound_heterozygous (6)
Common zygosity

Summary

Point missense_variant Likely pathogenic Residue 193 AlphaMissense key R193W
HGVS
c.577C>T
Protein change
p.Arg193Trp
rsID
rs281875287
ClinVar ID
68823
GRCh38 coordinate
133426236
Location
exon 6
gnomAD AF
0.00001178
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

[Recurrent thrombocytopenia with hemolytic anemia in a boy aged 3 years]
Authors: Zeng MH, He XL, Tian X, Huang YH.
Source: Zhongguo Dang Dai Er Ke Za Zhi (2021)
Citation: Zhongguo Dang Dai Er Ke Za Zhi. 2021 May;23(5):524-529. doi: 10.7499/j.issn.1008-8830.2101085.
PubMed: 34020745 · DOI: 10.7499/j.issn.1008-8830.2101085
Hereditary thrombotic thrombocytopenic purpura: a case report
Authors: Borborema TS, Diniz SSL, Lima JS, Costa FF, Murao M, Campos MK.
Source: Hematol Transfus Cell Ther (2022)
Citation: Hematol Transfus Cell Ther. 2022 Apr-Jun;44(2):269-271. doi: 10.1016/j.htct.2020.08.007. Epub 2020 Sep 13.
PubMed: 33028508 · DOI: 10.1016/j.htct.2020.08.007
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
Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene
Authors: Rank CU, Kremer Hovinga J, Taleghani MM, Lämmle B, Gøtze JP, Nielsen OJ.
Source: Eur J Haematol (2014)
Citation: Eur J Haematol. 2014 Feb;92(2):168-71. doi: 10.1111/ejh.12197. Epub 2013 Dec 10.
PubMed: 24033710 · DOI: 10.1111/ejh.12197
[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene]
Authors: Schiphorst RH, van de Kar NC, van den Heuvel LP.
Source: Ned Tijdschr Geneeskd (2003)
Citation: Ned Tijdschr Geneeskd. 2003 Dec 6;147(49):2422-4.
PubMed: 14694551
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
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734
Characterization of autopsy findings including multivisceral glomeruloid vascular bodies in hereditary thrombotic thrombocytopenic purpura with two new variants in ADAMTS13 gene
Authors: Maragliano R, Perrot A, Loget P, Combescure C, Belhomme N, Faoucher M, Dubourg C, Fradin M, Collardeau-Frachon S
Source: Virchows Arch (2025)
Citation: Virchows Arch. 2025 Aug 4. doi: 10.1007/s00428-025-04200-8
PubMed: 40760196 · DOI: 10.1007/s00428-025-04200-8

Amino-acid property change

Residue substitution
R → W at 193
AlphaMissense score
0.3306
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 193 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (5); China (1)
Phenotype
cTTP (6)
Zygosity
compound_heterozygous (6)
Sex
female (3); male (3)
Pregnancy-related
yes (2); no (2); unknown (2)
Triggers
pregnancy (2); none (2); unknown (2)
Treatment
unknown (4); PEX (1); PI (1)
ADAMTS13 activity
n=6; median=3.9; range=0.5–10
Age of onset
n=6; median=6.5; range=1–28
Age of diagnosis
n=4; median=17.5; range=2–28
Platelet count
n=3; median=15; range=1–16

Variant fields

mut_syn_HGVS
c.577C>T
cdna_numb_HGVS
577
cdna_numb_legacy
577
nt_change
C>T
n_bp
1
nuc_numb
577
g_numb
g16
aa_numb_HGVS
193
aa_numb_legacy
193
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg193Trp
codon_first
CGG
codon_last
TGG
coordinate_GRCh38
133426236
gnomAD_AC
19
gnomAD_AN
1613296
gnomAD_AF
0.00001178
clinvar_id
68823
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Likely pathogenic
refState
complete
ref_id
42, 51, 71, 120, 179, 205, 214, 317

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
13 279 143 42 cTTP compound_heterozygous Japan female 28 28 4.8 15 yes pregnancy unknown
18 279 106 51 cTTP compound_heterozygous China male 8 12 <5 1 no none unknown
94 279 150 120 cTTP compound_heterozygous Japan female 3 23 <10 16 yes pregnancy PEX
142 279 174 214 cTTP compound_heterozygous Japan male <5 unknown <0.5 unknown unknown unknown unknown
150 279 137 214 cTTP compound_heterozygous Japan female <13 unknown <0.5 unknown unknown unknown unknown
272 279 174 179 cTTP compound_heterozygous Japan male <1 2 <3 unknown no none PI