Variant detail

mut_id 32 · c.702C>A · p.His234Gln

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Evidence at a glance

2
Linked patients
2
Patient-variant records
4
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Likely pathogenic Residue 234 AlphaMissense key H234Q
HGVS
c.702C>A
Protein change
p.His234Gln
ClinVar ID
68826
GRCh38 coordinate
133428649
Location
exon 7
Domain
Metalloprotease
Gene
ADAMTS13

External links

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
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
Mechanisms of the interaction between two ADAMTS13 gene mutations leading to severe deficiency of enzymatic activity
Authors: Peyvandi F, Lavoretano S, Palla R, Valsecchi C, Merati G, De Cristofaro R, Rossi E, Mannuccio Mannucci P.
Source: Hum Mutat (2006)
Citation: Hum Mutat. 2006 Apr;27(4):330-6. doi: 10.1002/humu.20267.
PubMed: 16453338 · DOI: 10.1002/humu.20267

Amino-acid property change

Residue substitution
H → Q at 234
AlphaMissense score
0.9337
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
aromatic/basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.2 → -3.5
Molecular weight
155.2 → 146.1
Original residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/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 234 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
unknown (1); none (1)
Treatment
unknown (2)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
Not available
Age of diagnosis
n=1; median=31; range=31–31
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.702C>A
cdna_numb_HGVS
702
cdna_numb_legacy
702
nt_change
C>A
n_bp
1
nuc_numb
702
g_numb
g16
aa_numb_HGVS
234
aa_numb_legacy
234
aa_first
His
aa_last
Gln
aa_syn
p.His234Gln
codon_first
CAC
codon_last
CAA
coordinate_GRCh38
133428649
clinvar_id
68826
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 93, 205, 274

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
109 32 259 93 cTTP compound_heterozygous Japan male unknown unknown <0.5 unknown no unknown unknown
233 32 259 274 cTTP compound_heterozygous Japan male unknown 31 unknown unknown no none unknown