Variant detail

mut_id 34 · c.708_709insG · Ala237GlyfsTer153

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Evidence at a glance

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

Summary

Insertion frameshift_variant Residue 237 AlphaMissense key A237G
HGVS
c.708_709insG
Protein change
Ala237GlyfsTer153
GRCh38 coordinate
133428655
Location
exon 7
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

[Siblings with congenital thrombotic thrombocytopenic purpura]
Authors: Funakoshi Y, Okada M, Matsumoto M, Kokame K, Moriuchi H.
Source: Rinsho Ketsueki (2017)
Citation: Rinsho Ketsueki. 2017;58(8):933-937. doi: 10.11406/rinketsu.58.933.
PubMed: 28883277 · DOI: 10.11406/rinketsu.58.933

Amino-acid property change

Residue substitution
A → G at 237
AlphaMissense score
0.0946
Likely benign
CSV class: LBen
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
small → small (unchanged)
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
buried → surface
Hydropathy index
1.8 → -0.4
Molecular weight
89.1 → 75.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
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 237 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
India (1)
Phenotype
cTTP (1)
Zygosity
homozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=5; range=5–5
Platelet count
n=1; median=20; range=20–20

Variant fields

mut_syn_HGVS
c.708_709insG
nt_change
Insertion
n_bp
1
g_numb
g16
aa_numb_HGVS
237
aa_numb_legacy
237
aa_first
Ala
aa_last
Gly
aa_syn
Ala237GlyfsTer153
coordinate_GRCh38
133428655
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
86

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
65 34 . 86 cTTP homozygous India male 1 5 <5 20 no unknown unknown