Variant detail

mut_id 28 · c.607T>C · p.Ser203Pro

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 203 AlphaMissense key S203P
HGVS
c.607T>C
Protein change
p.Ser203Pro
GRCh38 coordinate
133426266
Location
exon 6
Domain
Metalloprotease
Gene
ADAMTS13

External links

gnomAD

References

A Rare Case of Thrombotic Thrombocytopenic Purpura Caused by Pancreatitis and Clopidogrel
Authors: Rawala MS, Naqvi STS, Khan MY, El Toukhy A.
Source: Am J Case Rep (2018)
Citation: Am J Case Rep. 2018 Oct 30;19:1288-1291. doi: 10.12659/AJCR.911679.
PubMed: 30374015 · DOI: 10.12659/AJCR.911679
Prevalence of the ADAMTS-13 missense mutation R1060W in late onset adult thrombotic thrombocytopenic purpura
Authors: Camilleri RS, Cohen H, Mackie IJ, Scully M, Starke RD, Crawley JT, Lane DA, Machin SJ.
Source: J Thromb Haemost (2008)
Citation: J Thromb Haemost. 2008 Feb;6(2):331-8. doi: 10.1111/j.1538-7836.2008.02846.x. Epub 2007 Nov 20.
PubMed: 18031293 · DOI: 10.1111/j.1538-7836.2008.02846.x
An enzyme immunoassay of ADAMTS13 distinguishes patients with thrombotic thrombocytopenic purpura from normal individuals and carriers of ADAMTS13 mutations
Authors: Zhou W, Tsai HM.
Source: Thromb Haemost (2004)
Citation: Thromb Haemost. 2004 Apr;91(4):806-11. doi: 10.1160/TH03-11-0675.
PubMed: 15045144 · DOI: 10.1160/TH03-11-0675

Amino-acid property change

Residue substitution
S → P at 203
AlphaMissense score
0.7956
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
Not available
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.8 → -1.6
Molecular weight
105.0 → 115.1
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
type:
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 203 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Mauritius (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
no (1)
Triggers
none (1)
Treatment
unknown (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
Not available

Variant fields

mut_syn_HGVS
c.607T>C
cdna_numb_HGVS
607
cdna_numb_legacy
607
nt_change
T>C
n_bp
1
nuc_numb
607
g_numb
g16
aa_numb_HGVS
203
aa_numb_legacy
203
aa_first
Ser
aa_last
Pro
aa_syn
p.Ser203Pro
codon_first
TCC
codon_last
CCC
coordinate_GRCh38
133426266
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
76, 161, 176

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
268 28 139 176 cTTP compound_heterozygous Mauritius female <1 <1 <5 unknown no none unknown