Variant detail

mut_id 116 · c.2725G>C · p.Gly909Arg

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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 909 AlphaMissense key G909R
HGVS
c.2725G>C
Protein change
p.Gly909Arg
GRCh38 coordinate
133445813
Location
exon 21
Domain
TSP type-1 5
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
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
ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study
Authors: von Krogh AS, Kremer Hovinga JA, Romundstad PR, Roten LT, Lämmle B, Waage A, Quist-Paulsen P.
Source: Thromb Res (2015)
Citation: Thromb Res. 2015 Aug;136(2):282-8. doi: 10.1016/j.thromres.2015.06.022. Epub 2015 Jun 18.
PubMed: 26139087 · DOI: 10.1016/j.thromres.2015.06.022

Amino-acid property change

Residue substitution
G → R at 909
AlphaMissense score
0.2965
Likely benign
CSV class: LBen
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 909 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
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
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
n=1; median=14; range=14–14
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2725G>C
cdna_numb_HGVS
2725
cdna_numb_legacy
2725
nt_change
G>C
n_bp
1
nuc_numb
2725
g_numb
g16
aa_numb_HGVS
909
aa_numb_legacy
909
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly909Arg
codon_first
GGG
codon_last
CGG
coordinate_GRCh38
133445813
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205, 235

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
166 116 63 235 cTTP compound_heterozygous Japan female 14 21 <0.5 unknown yes pregnancy PI