Variant detail

mut_id 63 · c.1313G>C · p.Cys438Ser

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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 438 AlphaMissense key C438S
HGVS
c.1313G>C
Protein change
p.Cys438Ser
GRCh38 coordinate
133436833
Location
exon 12
Domain
TSP type-1 1
Gene
ADAMTS13

External links

gnomAD

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
ADAMTS13 gene variants and function in women with preeclampsia: a population- based nested case- control study from the HUNT Study
Authors: von Krogh AS, Kremer Hovinga JA, Romundstad PR, Roten LT, Lämmle B, Waage A, Quist-Paulsen P.
Source: Thromb Res (2015)
Citation: Thromb Res. 2015 Aug;136(2):282-8. doi: 10.1016/j.thromres.2015.06.022. Epub 2015 Jun 18.
PubMed: 26139087 · DOI: 10.1016/j.thromres.2015.06.022

Amino-acid property change

Residue substitution
C → S at 438
AlphaMissense score
0.9349
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Not available
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.8
Molecular weight
121.2 → 105.0
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 438 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
n=1; median=14; range=14–14
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1313G>C
cdna_numb_HGVS
1313
cdna_numb_legacy
1313
nt_change
G>C
n_bp
1
nuc_numb
1313
g_numb
g16
aa_numb_HGVS
438
aa_numb_legacy
438
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys438Ser
codon_first
TGC
codon_last
TCC
coordinate_GRCh38
133436833
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 205, 235

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
166 63 116 235 cTTP compound_heterozygous Japan female 14 21 <0.5 unknown yes pregnancy PI