Variant detail

mut_id 330 · c.2000delA · p.Asn667ThrfsTer31

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Evidence at a glance

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

Summary

Deletion frameshift_variant Residue 667 AlphaMissense key N667T
HGVS
c.2000delA
Protein change
p.Asn667ThrfsTer31
Location
exon 17
gnomAD AF
0.00000247
Domain
Spacer
Gene
ADAMTS13

References

[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3

Amino-acid property change

Residue substitution
N → T at 667
AlphaMissense score
0.1437
Likely benign
CSV class: LBen
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 667 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Spacer
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Switzerland (1); UK (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (2)
Pregnancy-related
unknown (1); yes (1)
Triggers
unknown (1); pregnancy (1)
Treatment
unknown (2)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2000delA
cdna_numb_HGVS
2000
cdna_numb_legacy
2000
nt_change
Deletion
n_bp
1
nuc_numb
2000
g_numb
g16
aa_numb_HGVS
667
aa_numb_legacy
667
aa_first
Asn
aa_last
Thr
aa_syn
p.Asn667ThrfsTer31
codon_first
CA
codon_last
C
gnomAD_AC
4
gnomAD_AN
1613906
gnomAD_AF
0.00000247
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
93, 239

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
105 330 264 93 cTTP compound_heterozygous Switzerland female unknown unknown 3 unknown unknown unknown unknown
183 330 264 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown