Variant detail

mut_id 13 · c.304C>A · p.Arg102Ser

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Evidence at a glance

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

Summary

Point missense_variant Residue 102 AlphaMissense key R102S
HGVS
c.304C>A
Protein change
p.Arg102Ser
rsID
rs121908469
GRCh38 coordinate
133424452
Location
exon 3
gnomAD AF
1.24E-06
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

von Willebrand factor antigen: a biomarker for severe pregnancy complications in women with hereditary thrombotic thrombocytopenic purpura?
Authors: Davidesko S, Pikovsky O, Al-Athamen K, Hackmon R, Erez O, Miodownik S, Rabinovich A.
Source: J Thromb Haemost (2023)
Citation: J Thromb Haemost. 2023 Jun;21(6):1623-1629. doi: 10.1016/j.jtha.2023.02.022. Epub 2023 Mar 6.
PubMed: 36889591 · DOI: 10.1016/j.jtha.2023.02.022
Two novel mutations in ADAMTS13 in a Chinese boy with congenital thrombocytopenic purpura: a case report
Authors: Hou L, Du Y.
Source: BMC Med Genet (2020)
Citation: BMC Med Genet. 2020 Mar 20;21(1):57. doi: 10.1186/s12881-020-00996-1.
PubMed: 32197596 · DOI: 10.1186/s12881-020-00996-1

Amino-acid property change

Residue substitution
R → S at 102
AlphaMissense score
0.4403
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → small
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -0.8
Molecular weight
174.2 → 105.0
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 102 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Canada (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=34; range=34–34
Age of diagnosis
n=1; median=36; range=36–36
Platelet count
n=1; median=30; range=30–30

Variant fields

mut_syn_HGVS
c.304C>A
cdna_numb_HGVS
304
cdna_numb_legacy
304
nt_change
C>A
n_bp
1
nuc_numb
304
g_numb
g16
aa_numb_HGVS
102
aa_numb_legacy
102
aa_first
Arg
aa_last
Ser
aa_syn
p.Arg102Ser
codon_first
CGC
codon_last
AGC
coordinate_GRCh38
133424452
gnomAD_AC
2
gnomAD_AN
1613854
gnomAD_AF
1.24E-06
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
19, 60

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
24 13 . 60 cTTP homozygous Canada female 34 36 <1 30 no none PI