Variant detail

mut_id 346 · c.2725G>A · p.Gly909Arg

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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
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 909 AlphaMissense key G909R
HGVS
c.2725G>A
Protein change
p.Gly909Arg
rsID
rs138742754
Location
exon 21
gnomAD AF
0.00000696
Domain
TSP type-1 5
Gene
ADAMTS13

External links

dbSNP

References

A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734

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
unknown (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=3.1; range=3.1–3.1
Age of onset
n=1; median=22; range=22–22
Age of diagnosis
Not available
Platelet count
n=1; median=15; range=15–15

Variant fields

mut_syn_HGVS
c.2725G>A
cdna_numb_HGVS
2725
cdna_numb_legacy
2725
nt_change
G>A
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
AGG
gnomAD_AC
237
gnomAD_AN
1580338
gnomAD_AF
0.00000696
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
214

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
159 346 212 214 cTTP compound_heterozygous Japan female <22 unknown 3.1 15 unknown unknown unknown