Variant detail

mut_id 253 · c.3265G>T · p.Gly1089Trp

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Evidence at a glance

1
Linked patients
1
Patient-variant records
2
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 108 AlphaMissense key G108W
HGVS
c.3265G>T
Protein change
p.Gly1089Trp
rsID
rs1842671370
GRCh38 coordinate
133455300
Location
exon 25
gnomAD AF
0.00000124
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

A Case of Parturient with Hereditary Thrombotic Thrombocytopenic Purpura: Case Report of a Novel Variant
Authors: Chen JK, Tang N, Wang X, Huang M, Zhang C.
Source: Semin Thromb Hemost (2022)
Citation: Semin Thromb Hemost. 2022 Mar;48(2):256-261. doi: 10.1055/s-0041-1732466. Epub 2021 Aug 13.
PubMed: 34388840 · DOI: 10.1055/s-0041-1732466
Congenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events
Authors: Tenison E, Asif A, Sheridan M.
Source: BMJ Case Rep (2019)
Citation: BMJ Case Rep. 2019 Oct 3;12(10):e229481. doi: 10.1136/bcr-2019-229481.
PubMed: 31585956 · DOI: 10.1136/bcr-2019-229481

Amino-acid property change

Residue substitution
G → W at 108
AlphaMissense score
Not available
No local AlphaMissense row found for G108W.
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → large
Residue type
aliphatic → aromatic
Typical protein position
surface → buried
Hydropathy index
-0.4 → -0.9
Molecular weight
75.1 → 204.2
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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 108 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
India (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=21; range=21–21
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
n=1; median=49; range=49–49

Variant fields

mut_syn_HGVS
c.3265G>T
cdna_numb_HGVS
3265
cdna_numb_legacy
3265
nt_change
G>T
n_bp
1
nuc_numb
3265
g_numb
g16
aa_numb_HGVS
108
aa_numb_legacy
108
aa_first
Gly
aa_last
Trp
aa_syn
p.Gly1089Trp
codon_first
GGG
codon_last
TGG
coordinate_GRCh38
133455300
gnomAD_AC
2
gnomAD_AN
1603040
gnomAD_AF
0.00000124
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
39, 67

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
45 253 311 67 cTTP compound_heterozygous India male 21 21 <3 49 no none PI