Variant detail

mut_id 339 · c.2281G>A · p.Gly761Ser

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Evidence at a glance

3
Linked patients
3
Patient-variant records
4
Linked references
3
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (3)
Common zygosity

Summary

Point missense_variant Residue 761 AlphaMissense key G761S
HGVS
c.2281G>A
Protein change
p.Gly761Ser
rsID
rs782542048
Location
exon 19
gnomAD AF
0.00000250
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP

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
ADAMTS13 activity and genetic mutations in Japan
Authors: Miyata T, Kokame K, Matsumoto M, Fujimura Y.
Source: Hamostaseologie (2013)
Citation: Hamostaseologie. 2013 May 29;33(2):131-7. doi: 10.5482/HAMO-12-11-0017.
PubMed: 23715102 · DOI: 10.5482/HAMO-12-11-0017
Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
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
G → S at 761
AlphaMissense score
0.3038
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
small → small (unchanged)
Residue type
aliphatic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -0.8
Molecular weight
75.1 → 105.0
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
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 761 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Poland (1); Italy (1); Germany (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
male (3)
Pregnancy-related
no (3)
Triggers
none (2); unknown (1)
Treatment
unknown (1); PI (1); on-demand PI (1)
ADAMTS13 activity
n=2; median=5.5; range=5–6
Age of onset
n=2; median=18; range=1–35
Age of diagnosis
n=1; median=52; range=52–52
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2281G>A
cdna_numb_HGVS
2281
cdna_numb_legacy
2281
nt_change
G>A
n_bp
1
nuc_numb
2281
g_numb
g16
aa_numb_HGVS
761
aa_numb_legacy
761
aa_first
Gly
aa_last
Ser
aa_syn
p.Gly761Ser
codon_first
GGC
codon_last
AGC
gnomAD_AC
4
gnomAD_AN
1597350
gnomAD_AF
0.00000250
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 125, 220, 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
113 339 273 125 cTTP compound_heterozygous Poland male unknown 52 unknown unknown no unknown unknown
201 339 273 233 cTTP compound_heterozygous Italy male 35 unknown <6 unknown no none PI
334 339 95 220 cTTP compound_heterozygous Germany male <1 unknown <5 unknown no none on-demand PI