Variant detail

mut_id 24 · c.530A>G · p.Tyr177Cys

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Evidence at a glance

3
Linked patients
3
Patient-variant records
4
Linked references
2
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (3)
Common zygosity

Summary

Point missense_variant Residue 177 AlphaMissense key Y177C
HGVS
c.530A>G
Protein change
p.Tyr177Cys
rsID
rs200594025
GRCh38 coordinate
133426053
Location
exon 5
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP gnomAD

References

Long-term follow-up of patients with congenital thrombotic thrombocytopenia purpura receiving a plasma-derived factor VIII (Koate) that contains ADAMTS13
Authors: Chrisentery-Singleton T, Boggio LN, Carcao MD, Ibrahimi S, Khan O, Mahajerin A, Rajasekhar A, Sharma V, Steele M, Torres M, Rodino FJ, Carpenter SL.
Source: Haemophilia (2023)
Citation: Haemophilia. 2023 Nov;29(6):1638-1645. doi: 10.1111/hae.14891. Epub 2023 Oct 19.
PubMed: 37855744 · DOI: 10.1111/hae.14891
A Case Report of Congenital Thrombotic Thrombocytopenic Purpura: The Peripheral Blood Smear Lights the Diagnosis
Authors: Toret E, Demir-Kolsuz O, Ozdemir ZC, Bor O.
Source: J Pediatr Hematol Oncol (2022)
Citation: J Pediatr Hematol Oncol. 2022 Jan 1;44(1):e243-e245. doi: 10.1097/MPH.0000000000002032.
PubMed: 33306605 · DOI: 10.1097/MPH.0000000000002032
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
[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017

Amino-acid property change

Residue substitution
Y → C at 177
AlphaMissense score
0.8455
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic → Unknown
Typical protein position
surface → buried
Hydropathy index
-1.3 → 2.5
Molecular weight
181.2 → 121.2
Original residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 177 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Switzerland (2); China (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
female (2); male (1)
Pregnancy-related
no (2); unknown (1)
Triggers
infection (1); unknown (1); none (1)
Treatment
PI (2); unknown (1)
ADAMTS13 activity
n=3; median=5; range=1–5
Age of onset
n=1; median=3; range=3–3
Age of diagnosis
n=2; median=24.5; range=15–34
Platelet count
n=1; median=10; range=10–10

Variant fields

mut_syn_HGVS
c.530A>G
cdna_numb_HGVS
530
cdna_numb_legacy
530
nt_change
A>G
n_bp
1
nuc_numb
530
g_numb
g16
aa_numb_HGVS
177
aa_numb_legacy
177
aa_first
Tyr
aa_last
Cys
aa_syn
p.Tyr177Cys
codon_first
TAT
codon_last
TGT
coordinate_GRCh38
133426053
gnomAD_AC
1
gnomAD_AN
1613964
gnomAD_AF
6.20E-07
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
10, 48, 71, 93

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
1 24 110 10 cTTP compound_heterozygous China male 3 15 <5 10 no infection PI
106 24 133 93 cTTP compound_heterozygous Switzerland female unknown unknown 5 unknown unknown unknown unknown
368 24 133 48 cTTP compound_heterozygous Switzerland female unknown 34 <1 unknown no none PI