Variant detail

mut_id 14 · c.304C>T · p. Arg102Cys

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Evidence at a glance

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

Summary

Point missense_variant Pathogenic Residue 102 AlphaMissense key R102C
HGVS
c.304C>T
Protein change
p. Arg102Cys
rsID
rs121908469
ClinVar ID
5800
GRCh38 coordinate
133424452
Location
exon 3
gnomAD AF
1.18E-05
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
Inherited thrombotic thrombocytopenic purpura in pregnancy
Authors: Drews K, Seremak-Mrozikiewicz A, Sobieszczyk S, Barlik M.
Source: Neuro Endocrinol Lett (2013)
Citation: Neuro Endocrinol Lett. 2013;34(6):508-13.
PubMed: 24378452
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399
Congenital thrombotic thrombocytopenic purpura: a rare cause of severe neonatal jaundice and hypoxic respiratory failure - a case report
Authors: Al Mandhari H, Albulushi F, Al-Mashaikhi N
Source: Case Rep Perinat Med. (2025)
Citation: Case Rep Perinat Med. 2025 Jul 9;14(1):20240050. doi: 10.1515/crpm-2024-0050
PubMed: 40642024 · DOI: 10.1515/crpm-2024-0050

Amino-acid property change

Residue substitution
R → C at 102
AlphaMissense score
0.3943
Uncertain
CSV class: Amb
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → buried
Hydropathy index
-4.5 → 2.5
Molecular weight
174.2 → 121.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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
USA (1); Thailand (1)
Phenotype
cTTP (2)
Zygosity
heterozygous (1); compound_heterozygous (1)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
unknown (1); none (1)
Treatment
PI (2)
ADAMTS13 activity
n=2; median=4; range=3–5
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=2; median=23.5; range=21–26

Variant fields

mut_syn_HGVS
c.304C>T
cdna_numb_HGVS
304
cdna_numb_legacy
304
nt_change
C>T
n_bp
1
nuc_numb
304
g_numb
g16
aa_numb_HGVS
102
aa_numb_legacy
102
aa_first
Arg
aa_last
Cys
aa_syn
p. Arg102Cys
codon_first
CGC
codon_last
TGC
coordinate_GRCh38
133424452
gnomAD_AC
19
gnomAD_AN
1613736
gnomAD_AF
1.18E-05
clinvar_id
5800
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
71, 117, 188, 315, 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
89 14 . 117 cTTP heterozygous USA male <1 <1 <5 26 no unknown PI
287 14 38 315 cTTP compound_heterozygous Thailand male <1 unknown <3 21 no none PI