Variant detail

mut_id 75 · c.1520G>A · p.Arg507Gln

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Evidence at a glance

5
Linked patients
5
Patient-variant records
8
Linked references
4
Countries reported
cTTP (5)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point missense_variant Not provided Residue 507 AlphaMissense key R507Q
HGVS
c.1520G>A
Protein change
p.Arg507Gln
rsID
rs281875296
ClinVar ID
68802
GRCh38 coordinate
133437833
Location
exon 13
gnomAD AF
6.82E-06
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Novel ADAMTS13 mutations in a patient with congenital thrombotic thrombocytopenic purpura
Authors: Wang Z, Zhang X, Lu X, Peng P, Wang H, Feng S, Zhou L.
Source: Hematology (2023)
Citation: Hematology. 2023 Dec;28(1):2269513. doi: 10.1080/16078454.2023.2269513. Epub 2023 Oct 18.
PubMed: 37850618 · DOI: 10.1080/16078454.2023.2269513
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
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
[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017
Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy
Authors: Epperla N, Hemauer K, Friedman KD, George JN, Foy P.
Source: Am J Hematol (2016)
Citation: Am J Hematol. 2016 Jun;91(6):644-6. doi: 10.1002/ajh.24311.
PubMed: 26822222 · DOI: 10.1002/ajh.24311
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
Thrombotic thrombocytopenic purpura and pregnancy: presentation, management, and subsequent pregnancy outcomes
Authors: Scully M, Thomas M, Underwood M, Watson H, Langley K, Camilleri RS, Clark A, Creagh D, Rayment R, Mcdonald V, Roy A, Evans G, McGuckin S, Ni Ainle F, Maclean R, Lester W, Nash M, Scott R, O Brien P; collaborators of the UK TTP Registry.
Source: Blood (2014)
Citation: Blood. 2014 Jul 10;124(2):211-9. doi: 10.1182/blood-2014-02-553131. Epub 2014 May 23.
PubMed: 24859360 · DOI: 10.1182/blood-2014-02-553131

Amino-acid property change

Residue substitution
R → Q at 507
AlphaMissense score
0.2539
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.5
Molecular weight
174.2 → 146.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
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 507 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Norway (2); Saudi Arabia (1); Switzerland (1); France (1)
Phenotype
cTTP (5)
Zygosity
compound_heterozygous (4); homozygous (1)
Sex
female (5)
Pregnancy-related
no (2); unknown (2); yes (1)
Triggers
none (2); unknown (2); pregnancy (1)
Treatment
unknown (3); PI (2)
ADAMTS13 activity
n=5; median=5; range=1–5
Age of onset
n=3; median=1; range=1–48
Age of diagnosis
n=3; median=18; range=1–59
Platelet count
n=1; median=10; range=10–10

Variant fields

mut_syn_HGVS
c.1520G>A
cdna_numb_HGVS
1520
cdna_numb_legacy
1520
nt_change
G>A
n_bp
1
nuc_numb
1520
g_numb
g16
aa_numb_HGVS
507
aa_numb_legacy
507
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg507Gln
codon_first
CGG
codon_last
CAG
coordinate_GRCh38
133437833
gnomAD_AC
11
gnomAD_AN
1613974
gnomAD_AF
6.82E-06
clinvar_id
68802
clinvar_classification
Not provided
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
11, 71, 76, 93, 95, 161, 176, 240

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
2 75 . 11 cTTP homozygous Saudi Arabia female <1 <1 <5 10 no none PI
81 75 273 95 cTTP compound_heterozygous Norway female 48 59 <1 unknown unknown unknown PI
102 75 273 93 cTTP compound_heterozygous Switzerland female unknown unknown <1 unknown unknown unknown unknown
192 75 273 240 cTTP compound_heterozygous Norway female unknown unknown <5 unknown yes pregnancy unknown
264 75 324 176 cTTP compound_heterozygous France female <1 18 <5 unknown no none unknown