Variant detail

mut_id 265 · c.3779dupT · p.Met1260IlefsTer34

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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

Duplication frameshift_variant Residue 126 AlphaMissense key M126I
HGVS
c.3779dupT
Protein change
p.Met1260IlefsTer34
rsID
rs1564445915
GRCh38 coordinate
133456605
Location
exon 27
gnomAD AF
0.00000186
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

The D173G mutation in ADAMTS-13 causes a severe form of congenital thrombotic thrombocytopenic purpura. A clinical, biochemical and in silico study
Authors: Lancellotti S, Peyvandi F, Pagliari MT, Cairo A, Abdel-Azeim S, Chermak E, Lazzareschi I, Mastrangelo S, Cavallo L, Oliva R, De Cristofaro R.
Source: Thromb Haemost (2016)
Citation: Thromb Haemost. 2016 Jan;115(1):51-62. doi: 10.1160/TH15-02-0119. Epub 2015 Aug 13.
PubMed: 26272487 · DOI: 10.1160/TH15-02-0119
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399

Amino-acid property change

Residue substitution
M → I at 126
AlphaMissense score
Not available
No local AlphaMissense row found for M126I.
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → aliphatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
1.9 → 4.5
Molecular weight
149.2 → 131.2
Original residue details
M · methionine
code: Met
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type:
Variant residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic

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 126 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Netherlands (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=1; range=1–1
Age of onset
n=1; median=39; range=39–39
Age of diagnosis
n=1; median=49; range=49–49
Platelet count
n=1; median=31; range=31–31

Variant fields

mut_syn_HGVS
c.3779dupT
cdna_numb_HGVS
3779
cdna_numb_legacy
3779
nt_change
Duplication
n_bp
1
nuc_numb
3779
g_numb
g16
aa_numb_HGVS
126
aa_numb_legacy
126
aa_first
Met
aa_last
Ile
aa_syn
p.Met1260IlefsTer34
codon_first
ATG
codon_last
ATTG
coordinate_GRCh38
133456605
gnomAD_AC
3
gnomAD_AN
1613048
gnomAD_AF
0.00000186
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
101, 188

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
52 265 133 101 cTTP compound_heterozygous Netherlands male 39 49 <1 31 no unknown PI