Variant detail

mut_id 277 · c.548T>A · p.Leu183Gln

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Evidence at a glance

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

Summary

Point missense_variant Residue 183 AlphaMissense key L183Q
HGVS
c.548T>A
Protein change
p.Leu183Gln
rsID
rs1554785228
GRCh38 coordinate
133426207
Location
exon 6
gnomAD AF
0.00000309
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Congenital thrombotic thrombocytopenic purpura (TTP) with placental abruption despite maternal improvement: a case report
Authors: Soffer MD, Bendapudi PK, Roberts DJ, Edelson PK, Kuter DJ, Ecker JL, Bryant A, Goldfarb IT.
Source: BMC Pregnancy Childbirth (2020)
Citation: BMC Pregnancy Childbirth. 2020 Jun 15;20(1):365. doi: 10.1186/s12884-020-03051-2.
PubMed: 32539690 · DOI: 10.1186/s12884-020-03051-2
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

Amino-acid property change

Residue substitution
L → Q at 183
AlphaMissense score
0.8958
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → large (unchanged)
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
3.8 → -3.5
Molecular weight
131.2 → 146.1
Original residue details
L · leucine
code: Leu
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:

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 183 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
USA (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
on-demand Koate-DVI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=1; range=1–1
Age of diagnosis
n=1; median=1; range=1–1
Platelet count
n=1; median=13; range=13–13

Variant fields

mut_syn_HGVS
c.548T>A
cdna_numb_HGVS
548
cdna_numb_legacy
548
nt_change
T>A
n_bp
1
nuc_numb
548
g_numb
g16
aa_numb_HGVS
183
aa_numb_legacy
183
aa_first
Leu
aa_last
Gln
aa_syn
p.Leu183Gln
codon_first
CTG
codon_last
CAG
coordinate_GRCh38
133426207
gnomAD_AC
5
gnomAD_AN
1613920
gnomAD_AF
0.00000309
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
55, 71

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
21 277 324 55 cTTP compound_heterozygous USA female <1 <1 <5 13 no infection on-demand Koate-DVI