Variant detail

mut_id 376 · c.3735G>A · p.Trp1245Ter

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Evidence at a glance

2
Linked patients
2
Patient-variant records
3
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant
HGVS
c.3735G>A
Protein change
p.Trp1245Ter
Location
exon 27
Domain
Not available
Gene
ADAMTS13

References

The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura
Authors: Palla R, Lavoretano S, Lombardi R, Garagiola I, Karimi M, Afrasiabi A, Ramzi M, De Cristofaro R, Peyvandi F.
Source: Haematologica (2009)
Citation: Haematologica. 2009 Feb;94(2):289-93. doi: 10.3324/haematol.13524. Epub 2008 Dec 30.
PubMed: 19116307 · DOI: 10.3324/haematol.13524
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 → *
AlphaMissense score
Not available
Available for missense amino-acid substitutions only.
Hydrophobicity
hydrophobic → Unknown
Charge
neutral → Unknown
Polarity
nonpolar → Unknown
Size
large → Unknown
Residue type
aromatic → Unknown
Typical protein position
buried → Unknown
Hydropathy index
-0.9 → Unknown
Molecular weight
204.2 → Unknown
Original residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

Interactive AlphaFold structure

A residue-position-based structure view is only available when this variant has a numeric amino-acid position in aa_numb_HGVS. This record looks non-coding or splice-related, so no specific residue can be plotted directly.

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.3735G>A
cdna_numb_HGVS
3735
cdna_numb_legacy
3735
nt_change
G>A
n_bp
1
nuc_numb
3735
g_numb
g16
aa_first
Trp
aa_last
Ter
aa_syn
p.Trp1245Ter
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
264, 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
232 376 305 275 cTTP compound_heterozygous Germany male 3 10 <3 15 no PI
253 376 305 305 cTTP compound_heterozygous Germany male 4 6 <3 unknown no none none