Variant detail

mut_id 296 · c.803G>C · p.Arg268Pro

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Evidence at a glance

3
Linked patients
3
Patient-variant records
9
Linked references
3
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (3)
Common zygosity

Summary

Point missense_variant Pathogenic Residue 268 AlphaMissense key R268P
HGVS
c.803G>C
Protein change
p.Arg268Pro
rsID
rs121908477
ClinVar ID
5812
GRCh38 coordinate
133428750
Location
exon 7
gnomAD AF
7.39E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

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
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
A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism
Authors: Lee AC.
Source: Ann Acad Med Singap (2012)
Citation: Ann Acad Med Singap. 2012 Jul;41(7):305-8.
PubMed: 22892608
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura
Authors: Camilleri RS, Cohen H, Mackie IJ, Scully M, Starke RD, Crawley JT, Lane DA, Machin SJ.
Source: J Thromb Haemost (2008)
Citation: J Thromb Haemost. 2008 Feb;6(2):331-8. doi: 10.1111/j.1538-7836.2008.02846.x. Epub 2007 Nov 20.
PubMed: 18031293 · DOI: 10.1111/j.1538-7836.2008.02846.x
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Authors: Zhou W, Tsai HM.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Apr;91(4):806-11. doi: 10.1160/TH03-11-0675.
PubMed: 15045144 · DOI: 10.1160/TH03-11-0675
von Willebrand factor cleaving protease and ADAMTS13 mutations in childhood TTP
Authors: Schneppenheim R, Budde U, Oyen F, Angerhaus D, Aumann V, Drewke E, Hassenpflug W, Häberle J, Kentouche K, Kohne E, Kurnik K, Mueller-Wiefel D, Obser T, Santer R, Sykora KW.
Source: Blood (2003)
Citation: Blood. 2003 Mar 1;101(5):1845-50. doi: 10.1182/blood-2002-08-2399. Epub 2002 Oct 17.
PubMed: 12393505 · DOI: 10.1182/blood-2002-08-2399
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

Amino-acid property change

Residue substitution
R → P at 268
AlphaMissense score
0.3538
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -1.6
Molecular weight
174.2 → 115.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:

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 268 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1); Haiti (1); UK (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
male (2); female (1)
Pregnancy-related
no (2); unknown (1)
Triggers
unknown (1); none (1); infection (1)
Treatment
unknown (2); on-demand PI (1)
ADAMTS13 activity
n=3; median=5; range=0.5–5
Age of onset
n=3; median=1; range=1–10
Age of diagnosis
n=1; median=8; range=8–8
Platelet count
n=1; median=8; range=8–8

Variant fields

mut_syn_HGVS
c.803G>C
cdna_numb_HGVS
803
cdna_numb_legacy
803
nt_change
G>C
n_bp
1
nuc_numb
803
g_numb
g16
aa_numb_HGVS
268
aa_numb_legacy
268
aa_first
Arg
aa_last
Pro
aa_syn
p.Arg268Pro
codon_first
CGG
codon_last
CCG
coordinate_GRCh38
133428750
gnomAD_AC
1
gnomAD_AN
1353572
gnomAD_AF
7.39E-07
clinvar_id
5812
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
71, 72, 76, 138, 161, 176, 187, 205, 214, 332

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
138 296 319 214 cTTP compound_heterozygous Japan male <1 unknown <0.5 8 unknown unknown unknown
266 296 5 176 cTTP compound_heterozygous Haiti female <1 8 <5 unknown no none unknown
364 296 67 138 cTTP compound_heterozygous UK male 10 unknown <5 unknown no infection on-demand PI