Variant detail

mut_id 53 · c.1160G>C · p.Trp387Ser

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Evidence at a glance

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

Summary

Point missense_variant Residue 387 AlphaMissense key W387S
HGVS
c.1160G>C
Protein change
p.Trp387Ser
rsID
rs780251348
GRCh38 coordinate
133433445
Location
exon 10
gnomAD AF
6.20E-07
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Recurrent C3 Glomerulonephritis with an ADAMTS 13 Gene Variant: A Case Report and Literature Review
Authors: Zahrani RAA, Nazmi AMAY, Hussain TOA.
Source: Saudi J Kidney Dis Transpl (2021)
Citation: Saudi J Kidney Dis Transpl. 2021 Nov-Dec;32(6):1782-1789. doi: 10.4103/1319-2442.352441.
PubMed: 35946293 · DOI: 10.4103/1319-2442.352441

Amino-acid property change

Residue substitution
W → S at 387
AlphaMissense score
0.8917
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → small
Residue type
aromatic → Unknown
Typical protein position
buried → surface
Hydropathy index
-0.9 → -0.8
Molecular weight
204.2 → 105.0
Original residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
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 387 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Russia (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
none (1)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=29; range=29–29
Age of diagnosis
n=1; median=32; range=32–32
Platelet count
n=1; median=19; range=19–19

Variant fields

mut_syn_HGVS
c.1160G>C
cdna_numb_HGVS
1160
cdna_numb_legacy
1160
nt_change
G>C
n_bp
1
nuc_numb
1160
g_numb
g16
aa_numb_HGVS
387
aa_numb_legacy
387
aa_first
Trp
aa_last
Ser
aa_syn
p.Trp387Ser
codon_first
TGG
codon_last
TCG
coordinate_GRCh38
133433445
gnomAD_AC
1
gnomAD_AN
1613506
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
197

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
226 53 133 197 cTTP compound_heterozygous Russia female 29 32 <10 19 yes pregnancy none