Variant detail

mut_id 154 · c.3772delA · p.Asn1258ThrfsTer15

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Evidence at a glance

17
Linked patients
17
Patient-variant records
2
Linked references
1
Countries reported
cTTP (17)
Common phenotype
homozygous (17)
Common zygosity

Summary

Deletion Deletion Residue 1258 AlphaMissense key N1258T
HGVS
c.3772delA
Protein change
p.Asn1258ThrfsTer15
Location
exon 27
Domain
CUB 1
Gene
ADAMTS13

References

Diagnosis of Hereditary TTP Caused by Homozygosity for a Rare Complex ADAMTS13 Allele After Salmonella Infection in a 43-Year-Old Asylum Seeker
Authors: Wendt R, Kalbitz S, Otto F, Falter T, Beige J, Rossmann H, Lämmle B.
Source: Front Med (Lausanne) (2021)
Citation: Front Med (Lausanne). 2021 Feb 26;8:639441. doi: 10.3389/fmed.2021.639441. eCollection 2021.
PubMed: 33732721 · DOI: 10.3389/fmed.2021.639441
[A 2-day-old neonate with hyperbilirubinemia and thrombocytopenia]
Authors: Li C, Chen Z, Chen MY, Ma XL.
Source: Zhongguo Dang Dai Er Ke Za Zhi (2019)
Citation: Zhongguo Dang Dai Er Ke Za Zhi. 2019 Dec;21(12):1218-1222. doi: 10.7499/j.issn.1008-8830.2019.12.013.
PubMed: 31874663 · DOI: 10.7499/j.issn.1008-8830.2019.12.013

Amino-acid property change

Residue substitution
N → T at 1258
AlphaMissense score
Not available
No local AlphaMissense row found for N1258T.
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → medium (unchanged)
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -0.7
Molecular weight
132.1 → 119.1
Original residue details
N · asparagine
code: Asn
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
T · threonine
code: Thr
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 1258 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Israel (17)
Phenotype
cTTP (17)
Zygosity
homozygous (17)
Sex
female (14); male (3)
Pregnancy-related
no (9); yes (8)
Triggers
none (9); pregnancy (8)
Treatment
unknown (17)
ADAMTS13 activity
n=17; median=3; range=1–9
Age of onset
Not available
Age of diagnosis
n=17; median=24; range=14–48
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3772delA
nt_change
Deletion
g_numb
g16
aa_numb_HGVS
1258
aa_numb_legacy
1258
aa_first
Asn
aa_last
Thr
aa_syn
p.Asn1258ThrfsTer15
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
44, 64

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
27 154 . 64 cTTP homozygous Israel male unknown 15 3 unknown no none unknown
28 154 . 64 cTTP homozygous Israel male unknown 35 <1 unknown no none unknown
29 154 . 64 cTTP homozygous Israel female unknown 35 3 unknown yes pregnancy unknown
30 154 . 64 cTTP homozygous Israel female unknown 24 <1 unknown yes pregnancy unknown
31 154 . 64 cTTP homozygous Israel female unknown 29 4 unknown yes pregnancy unknown
32 154 . 64 cTTP homozygous Israel female unknown 31 4 unknown yes pregnancy unknown
33 154 . 64 cTTP homozygous Israel female unknown 24 <1 unknown yes pregnancy unknown
34 154 . 64 cTTP homozygous Israel female unknown 21 <1 unknown yes pregnancy unknown
35 154 . 64 cTTP homozygous Israel female unknown 21 1 unknown yes pregnancy unknown
36 154 . 64 cTTP homozygous Israel female unknown 29 4 unknown yes pregnancy unknown
37 154 . 64 cTTP homozygous Israel female unknown 22 9 unknown no none unknown
38 154 . 64 cTTP homozygous Israel female unknown 16 2 unknown no none unknown
39 154 . 64 cTTP homozygous Israel male unknown 14 3 unknown no none unknown
40 154 . 64 cTTP homozygous Israel female unknown 20 4 unknown no none unknown
41 154 . 64 cTTP homozygous Israel female unknown 44 3 unknown no none unknown
42 154 . 64 cTTP homozygous Israel female unknown 48 5 unknown no none unknown
43 154 . 64 cTTP homozygous Israel female unknown 18 6 unknown no none unknown