Variant detail

mut_id 256 · c.3284G>A · p.Arg1095Gln

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Evidence at a glance

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

Summary

Point missense_variant Conflicting classifications of pathogenicity Residue 109 AlphaMissense key R109Q
HGVS
c.3284G>A
Protein change
p.Arg1095Gln
rsID
rs373569027
ClinVar ID
1050736
Location
exon 25
gnomAD AF
0.00000311
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

[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
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
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
Authors: Enjeti AK, Chapman K, Taylor PJ, Meldrum C.
Source: Pathology (2015)
Citation: Pathology. 2015 Oct;47(6):585-6. doi: 10.1097/PAT.0000000000000303.
PubMed: 26352112 · DOI: 10.1097/PAT.0000000000000303

Amino-acid property change

Residue substitution
R → Q at 109
AlphaMissense score
Not available
No local AlphaMissense row found for R109Q.
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 109 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Switzerland (1); Italy (1); UK (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (2); heterozygous (1)
Sex
female (3)
Pregnancy-related
unknown (1); no (1); yes (1)
Triggers
unknown (1); infection (1); pregnancy (1)
Treatment
unknown (2); PI (1)
ADAMTS13 activity
n=3; median=5; range=1–6
Age of onset
n=2; median=15; range=1–29
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3284G>A
cdna_numb_HGVS
3284
cdna_numb_legacy
3284
nt_change
G>A
n_bp
1
nuc_numb
3284
g_numb
g16
aa_numb_HGVS
109
aa_numb_legacy
109
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg1095Gln
codon_first
CGG
codon_last
CAG
gnomAD_AC
5
gnomAD_AN
1606252
gnomAD_AF
0.00000311
clinvar_id
1050736
clinvar_classification
Conflicting classifications of pathogenicity
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
93, 138, 233, 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
108 256 . 93 cTTP heterozygous Switzerland female unknown unknown <1 unknown unknown unknown unknown
198 256 58 233 cTTP compound_heterozygous Italy female <1 unknown <6 unknown no infection PI
350 256 324 138 cTTP compound_heterozygous UK female 29 unknown <5 unknown yes pregnancy unknown