Variant detail

mut_id 95 · c.2104G>A · p.Gly702Arg

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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

Point missense_variant Residue 702 AlphaMissense key G702R
HGVS
c.2104G>A
Protein change
p.Gly702Arg
GRCh38 coordinate
133442613
Location
exon 18
Domain
TSP type-1 2
Gene
ADAMTS13

External links

gnomAD

References

Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Authors: Bai X*, Su J, Yu Z, Wang Z and Ruan C
Source: ISTH 2012 (2012)
Citation: ISTH 2012
PubMed: ISTH 2012

Amino-acid property change

Residue substitution
G → R at 702
AlphaMissense score
0.8381
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
aliphatic → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -4.5
Molecular weight
75.1 → 174.2
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 702 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Germany (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
on-demand PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2104G>A
cdna_numb_HGVS
2104
cdna_numb_legacy
2104
nt_change
G>A
n_bp
1
nuc_numb
2104
g_numb
g16
aa_numb_HGVS
702
aa_numb_legacy
702
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly702Arg
codon_first
GGG
codon_last
AGG
coordinate_GRCh38
133442613
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
220, 312

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
334 95 339 220 cTTP compound_heterozygous Germany male <1 unknown <5 unknown no none on-demand PI