Variant detail

mut_id 79 · c.1624T>G · p.Trp542Gly

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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 542 AlphaMissense key W542G
HGVS
c.1624T>G
Protein change
p.Trp542Gly
GRCh38 coordinate
133438285
Location
exon 14
gnomAD AF
6.20E-07
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017

Amino-acid property change

Residue substitution
W → G at 542
AlphaMissense score
0.1208
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → small
Residue type
aromatic → aliphatic
Typical protein position
buried → surface
Hydropathy index
-0.9 → -0.4
Molecular weight
204.2 → 75.1
Original residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 542 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Switzerland (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3.5; range=3.5–3.5
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1624T>G
cdna_numb_HGVS
1624
cdna_numb_legacy
1624
nt_change
T>G
n_bp
1
nuc_numb
1624
g_numb
g16
aa_numb_HGVS
542
aa_numb_legacy
542
aa_first
Trp
aa_last
Gly
aa_syn
p.Trp542Gly
codon_first
TGG
codon_last
GGG
coordinate_GRCh38
133438285
gnomAD_AC
1
gnomAD_AN
1614128
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
93

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
98 79 33 93 cTTP compound_heterozygous Switzerland female unknown unknown 3.5 unknown yes pregnancy unknown