Variant detail

mut_id 285 · c.679G>A · p.Gly227Arg

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Evidence at a glance

2
Linked patients
2
Patient-variant records
2
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 227 AlphaMissense key G227R
HGVS
c.679G>A
Protein change
p.Gly227Arg
Location
exon 6
gnomAD AF
0.00000124
Domain
Metalloprotease
Gene
ADAMTS13

References

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
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 227
AlphaMissense score
0.9497
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 227 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (2)
Pregnancy-related
unknown (2)
Triggers
unknown (2)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=0.5; range=0.5–0.5
Age of onset
n=2; median=9.5; range=9–10
Age of diagnosis
Not available
Platelet count
n=2; median=51; range=12–90

Variant fields

mut_syn_HGVS
c.679G>A
cdna_numb_HGVS
679
cdna_numb_legacy
679
nt_change
G>A
n_bp
1
nuc_numb
679
g_numb
g16
aa_numb_HGVS
227
aa_numb_legacy
227
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly227Arg
codon_first
GGG
codon_last
AGG
gnomAD_AC
2
gnomAD_AN
1601078
gnomAD_AF
0.00000124
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205, 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
146 285 345 214 cTTP compound_heterozygous Japan male <9 unknown <0.5 12 unknown unknown unknown
147 285 345 214 cTTP compound_heterozygous Japan male <10 unknown <0.5 90 unknown unknown unknown