Variant detail

mut_id 52 · c.1073G>A · p.Gly385Glu

Back Advanced search Full table

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 385 AlphaMissense key G385E
HGVS
c.1073G>A
Protein change
p.Gly385Glu
GRCh38 coordinate
133433439
Location
exon 10
Domain
TSP type-1 1
Gene
ADAMTS13

External links

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
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
The impact of congenital thrombotic thrombocytopenic purpura on pregnancy complications
Authors: von Krogh AS, Kremer Hovinga JA, Tjønnfjord GE, Ringen IM, Lämmle B, Waage A, Quist-Paulsen P.
Source: Thromb Haemost (2014)
Citation: Thromb Haemost. 2014 Jun;111(6):1180-3. doi: 10.1160/TH13-08-0713. Epub 2014 Feb 6.
PubMed: 24499950 · DOI: 10.1160/TH13-08-0713

Amino-acid property change

Residue substitution
G → E at 385
AlphaMissense score
0.9384
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → negative
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
aliphatic → acidic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -3.5
Molecular weight
75.1 → 147.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
E · glutamic acid
code: Glu
hydro: hydrophilic
charge: negative
polarity: polar
size: large
type: acidic

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 385 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
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
no (1)
Triggers
infection (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
n=1; median=3; range=3–3
Age of diagnosis
n=1; median=45; range=45–45
Platelet count
n=1; median=19; range=19–19

Variant fields

mut_syn_HGVS
c.1073G>A
cdna_numb_HGVS
1073
cdna_numb_legacy
1073
nt_change
G>A
n_bp
1
nuc_numb
1073
g_numb
g16
aa_numb_HGVS
385
aa_numb_legacy
385
aa_first
Gly
aa_last
Glu
aa_syn
p.Gly385Glu
codon_first
GGG
codon_last
GAG
coordinate_GRCh38
133433439
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205, 241

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
164 52 259 241 cTTP compound_heterozygous Japan female 3 45 <0.5 19 no infection unknown