Variant detail

mut_id 305 · c.1170G>C · p.Trp390Cys

Back Advanced search Full table

Evidence at a glance

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

Summary

Point missense_variant Not provided Residue 390 AlphaMissense key W390C
HGVS
c.1170G>C
Protein change
p.Trp390Cys
rsID
rs281875306
ClinVar ID
68801
GRCh38 coordinate
133433455
Location
exon 10
gnomAD AF
6.20E-07
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Novel compound heterozygote mutations (H234Q/R1206X) of the ADAMTS13 gene in an adult patient with Upshaw-Schulman syndrome showing predominant episodes of repeated acute renal failure
Authors: Shibagaki Y, Matsumoto M, Kokame K, Ohba S, Miyata T, Fujimura Y, Fujita T.
Source: Nephrol Dial Transplant (2006)
Citation: Nephrol Dial Transplant. 2006 May;21(5):1289-92. doi: 10.1093/ndt/gfk072. Epub 2006 Jan 31.
PubMed: 16449289 · DOI: 10.1093/ndt/gfk072
Novel homozygous ADAMTS13 mutation with neonatal presentation of congenital thrombotic thrombocytopenic purpura in two Indian origin babies
Authors: Debaditya Das, Ming Wei Lee, Shivani Dogra, Bikramjit Das, Joyce Lam, Sudip Sengupta, Rajat Bhattacharyya
Source: Pediatric Hematology Oncology Journal (2019)
Citation: Pediatric Hematology Oncology Journal, Valume 4, Issue 1, 2019. Pages 27-29, ISSN 2468-1245
DOI: 10.1016/j.phoj.2018.12.001

Amino-acid property change

Residue substitution
W → C at 390
AlphaMissense score
0.9916
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → medium
Residue type
aromatic → Unknown
Typical protein position
buried → buried (unchanged)
Hydropathy index
-0.9 → 2.5
Molecular weight
204.2 → 121.2
Original residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 390 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (2)
Pregnancy-related
no (2)
Triggers
none (1)
Treatment
PI (1); none (1)
ADAMTS13 activity
n=2; median=3; range=3–3
Age of onset
n=2; median=3.5; range=3–4
Age of diagnosis
n=2; median=8; range=6–10
Platelet count
n=1; median=15; range=15–15

Variant fields

mut_syn_HGVS
c.1170G>C
cdna_numb_HGVS
1170
cdna_numb_legacy
1170
nt_change
G>C
n_bp
1
nuc_numb
1170
g_numb
g16
aa_numb_HGVS
390
aa_numb_legacy
390
aa_first
Trp
aa_last
Cys
aa_syn
p.Trp390Cys
codon_first
TGG
codon_last
TGC
coordinate_GRCh38
133433455
gnomAD_AC
1
gnomAD_AN
1613548
gnomAD_AF
6.20E-07
clinvar_id
68801
clinvar_classification
Not provided
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
275, 305

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
232 305 376 275 cTTP compound_heterozygous Germany male 3 10 <3 15 no PI
253 305 376 305 cTTP compound_heterozygous Germany male 4 6 <3 unknown no none none