Variant detail

mut_id 81 · c.1648G>A · p.Gly550Arg

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 550 AlphaMissense key G550R
HGVS
c.1648G>A
Protein change
p.Gly550Arg
GRCh38 coordinate
133438309
Location
exon 14
Domain
Cysteine-rich
Gene
ADAMTS13

External links

gnomAD

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Late onset and pregnancy-induced congenital thrombotic thrombocytopenic purpura
Authors: Falter T, Kremer Hovinga JA, Lackner K, Füllemann HG, Lämmle B, Scharrer I.
Source: Hamostaseologie (2014)
Citation: Hamostaseologie. 2014;34(3):244-8. doi: 10.5482/HAMO-14-03-0023. Epub 2014 Jul 4.
PubMed: 24994604 · DOI: 10.5482/HAMO-14-03-0023
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896

Amino-acid property change

Residue substitution
G → R at 550
AlphaMissense score
0.6335
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 550 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
unknown (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
Not available
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1648G>A
cdna_numb_HGVS
1648
cdna_numb_legacy
1648
nt_change
G>A
n_bp
1
nuc_numb
1648
g_numb
g16
aa_numb_HGVS
550
aa_numb_legacy
550
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly550Arg
codon_first
GGG
codon_last
AGG
coordinate_GRCh38
133438309
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 111, 205

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
62 81 242 111 cTTP compound_heterozygous Japan female unknown unknown <0.5 unknown unknown unknown unknown