Variant detail

mut_id 43 · c.841T>A · p.Cys281Ser

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 281 AlphaMissense key C281S
HGVS
c.841T>A
Protein change
p.Cys281Ser
Location
exon 8
Domain
Metalloprotease
Gene
ADAMTS13

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
Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura
Authors: Falter T, Kremer Hovinga JA, Lackner K, Füllemann HG, Lämmle B, Scharrer I.
Source: Hamostaseologie (2014)
Citation: Hamostaseologie. 2014;34(3):244-8. doi: 10.5482/HAMO-14-03-0023. Epub 2014 Jul 4.
PubMed: 24994604 · DOI: 10.5482/HAMO-14-03-0023
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

Amino-acid property change

Residue substitution
C → S at 281
AlphaMissense score
0.9350
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Not available
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.8
Molecular weight
121.2 → 105.0
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
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 281 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
unknown (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.841T>A
cdna_numb_HGVS
841
cdna_numb_legacy
841
nt_change
T>A
n_bp
1
nuc_numb
841
g_numb
g16
aa_numb_HGVS
281
aa_numb_legacy
281
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys281Ser
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 111, 205

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
63 43 223 111 cTTP compound_heterozygous Japan female unknown unknown <1 unknown unknown unknown unknown