Variant detail

mut_id 150 · c.3657_3658insT · p.Pro1220Serfs*

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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

Insertion frameshift_variant Residue 1220 AlphaMissense key P1220S
HGVS
c.3657_3658insT
Protein change
p.Pro1220Serfs*
Location
exon 26
Domain
CUB 1
Gene
ADAMTS13

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Congenital thrombotic thrombocytopenic purpura caused by new compound heterozygous mutations of the ADAMTS13 gene
Authors: Rank CU, Kremer Hovinga J, Taleghani MM, Lämmle B, Gøtze JP, Nielsen OJ.
Source: Eur J Haematol (2014)
Citation: Eur J Haematol. 2014 Feb;92(2):168-71. doi: 10.1111/ejh.12197. Epub 2013 Dec 10.
PubMed: 24033710 · DOI: 10.1111/ejh.12197

Amino-acid property change

Residue substitution
P → S at 1220
AlphaMissense score
0.2586
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
medium → small
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-1.6 → -0.8
Molecular weight
115.1 → 105.0
Original residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type:
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 1220 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PEX (1)
ADAMTS13 activity
n=1; median=10; range=10–10
Age of onset
n=1; median=3; range=3–3
Age of diagnosis
n=1; median=23; range=23–23
Platelet count
n=1; median=16; range=16–16

Variant fields

mut_syn_HGVS
c.3657_3658insT
nt_change
Insertion
n_bp
1
g_numb
g16
aa_numb_HGVS
1220
aa_numb_legacy
1220
aa_first
Pro
aa_last
Ser
aa_syn
p.Pro1220Serfs*
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 120

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
94 150 279 120 cTTP compound_heterozygous Japan female 3 23 <10 16 yes pregnancy PEX