Variant detail

mut_id 336 · c.2167C>A · p.Gln723Lys

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Evidence at a glance

2
Linked patients
2
Patient-variant records
4
Linked references
1
Countries reported
cTTP (2)
Common phenotype
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Residue 723 AlphaMissense key Q723K
HGVS
c.2167C>A
Protein change
p.Gln723Lys
rsID
rs138014548
Location
exon 18
gnomAD AF
0.0001562
Domain
TSP type-1 2
Gene
ADAMTS13

External links

dbSNP

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
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
Next-generation sequencing study finds an excess of rare, coding single-nucleotide variants of ADAMTS13 in patients with deep vein thrombosis
Authors: Lotta LA, Tuana G, Yu J, Martinelli I, Wang M, Yu F, Passamonti SM, Pappalardo E, Valsecchi C, Scherer SE, Hale W 4th, Muzny DM, Randi G, Rosendaal FR, Gibbs RA, Peyvandi F.
Source: J Thromb Haemost (2013)
Citation: J Thromb Haemost. 2013 Jul;11(7):1228-39. doi: 10.1111/jth.12291.
PubMed: 23648131 · DOI: 10.1111/jth.12291

Amino-acid property change

Residue substitution
Q → K at 723
AlphaMissense score
0.1055
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.9
Molecular weight
146.1 → 146.2
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
Variant residue details
K · lysine
code: Lys
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 723 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 2
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 (1); no (1)
Triggers
unknown (1); infection (1)
Treatment
unknown (1); PI (1)
ADAMTS13 activity
n=2; median=0.5; range=0.5–0.5
Age of onset
n=2; median=7.5; range=1–14
Age of diagnosis
n=1; median=2; range=2–2
Platelet count
n=2; median=8.5; range=7–10

Variant fields

mut_syn_HGVS
c.2167C>A
cdna_numb_HGVS
2167
cdna_numb_legacy
2167
nt_change
C>A
n_bp
1
nuc_numb
2167
g_numb
g16
aa_numb_HGVS
723
aa_numb_legacy
723
aa_first
Gln
aa_last
Lys
aa_syn
p.Gln723Lys
codon_first
CAG
codon_last
AAG
gnomAD_AC
252
gnomAD_AN
1613142
gnomAD_AF
0.0001562
g_id
g16
g_name
ADAMTS13
comments
Conflicting interpretations of pathogenicity
refState
complete
ref_id
71, 205, 214, 245

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
151 336 309 214 cTTP compound_heterozygous Japan male <14 unknown <0.5 7 unknown unknown unknown
227 336 309 245 cTTP compound_heterozygous Japan male <1 2 <0.5 10 no infection PI