Variant detail

mut_id 286 · c.695T>A · p.Leu232Gln

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Evidence at a glance

4
Linked patients
4
Patient-variant records
6
Linked references
3
Countries reported
cTTP (4)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Not provided Residue 232 AlphaMissense key L232Q
HGVS
c.695T>A
Protein change
p.Leu232Gln
rsID
rs281875292
ClinVar ID
68825
GRCh38 coordinate
133428642
Location
exon 7
gnomAD AF
7.85E-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
[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
Remission of thrombotic thrombocytopenic purpura in a patient with compound heterozygous deficiency of von Willebrand factor-cleaving protease by infusion of solvent/detergent plasma
Authors: Kentouche K, Budde U, Furlan M, Scharfe V, Schneppenheim R, Zintl F.
Source: Acta Paediatr (2002)
Citation: Acta Paediatr. 2002;91(10):1056-9. doi: 10.1080/080352502760311548.
PubMed: 12434890 · DOI: 10.1080/080352502760311548
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Authors: Bai X*, Su J, Yu Z, Wang Z and Ruan C
Source: ISTH 2012 (2012)
Citation: ISTH 2012
PubMed: ISTH 2012

Amino-acid property change

Residue substitution
L → Q at 232
AlphaMissense score
0.7335
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → large (unchanged)
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
3.8 → -3.5
Molecular weight
131.2 → 146.1
Original residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
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 232 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (2); Norway (1); Switzerland (1)
Phenotype
cTTP (4)
Zygosity
compound_heterozygous (2); homozygous (2)
Sex
male (3); unknown (1)
Pregnancy-related
no (3); unknown (1)
Triggers
unknown (2); none (2)
Treatment
PI (2); unknown (2)
ADAMTS13 activity
n=4; median=5.3; range=2–6
Age of onset
n=3; median=1; range=1–38
Age of diagnosis
n=2; median=24; range=4–44
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.695T>A
cdna_numb_HGVS
695
cdna_numb_legacy
695
nt_change
T>A
n_bp
1
nuc_numb
695
g_numb
g16
aa_numb_HGVS
232
aa_numb_legacy
232
aa_first
Leu
aa_last
Gln
aa_syn
p.Leu232Gln
codon_first
CTG
codon_last
CAG
coordinate_GRCh38
133428642
gnomAD_AC
1
gnomAD_AN
1273534
gnomAD_AF
7.85E-07
clinvar_id
68825
clinvar_classification
Not provided
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
71, 93, 95, 186, 305, 312

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
78 286 133 95 cTTP compound_heterozygous Norway male 38 44 5.3 unknown no unknown PI
107 286 133 93 cTTP compound_heterozygous Switzerland male unknown unknown 5.3 unknown no unknown unknown
248 286 . 305 cTTP homozygous Germany male <1 4 2 unknown no none PI
344 286 . 186 cTTP homozygous Germany unknown <1 unknown 6 unknown unknown none unknown