Variant detail

mut_id 54 · c.1198T>C · p.Cys400Arg

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Evidence at a glance

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

Summary

Point missense_variant Residue 400 AlphaMissense key C400R
HGVS
c.1198T>C
Protein change
p.Cys400Arg
GRCh38 coordinate
133433483
Location
exon 10
Domain
TSP type-1 1
Gene
ADAMTS13

External links

gnomAD

References

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
Mutations and Common Polymorphisms in ADAMTS13 and vWF Genes Responsible for Increasing Risk of Thrombosis
Authors: Haybar H, Khodadi E, Kavianpour M, Saki N.
Source: Cardiovasc Hematol Disord Drug Targets (2018)
Citation: Cardiovasc Hematol Disord Drug Targets. 2018;18(3):176-181. doi: 10.2174/1871529X18666180419102214.
PubMed: 29669506 · DOI: 10.2174/1871529X18666180419102214
Two cases of congenital thrombotic thrombocytopenicpurpura associated with pregnancy
Authors: Bai X*, Su J, Yu Z, Wang Z and Ruan C
Source: ISTH 2012 (2012)
Citation: ISTH 2012
PubMed: ISTH 2012

Amino-acid property change

Residue substitution
C → R at 400
AlphaMissense score
0.9262
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
R · arginine
code: Arg
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 400 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); Germany (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (1); homozygous (1)
Sex
female (1); unknown (1)
Pregnancy-related
unknown (2)
Triggers
unknown (1); none (1)
Treatment
unknown (2)
ADAMTS13 activity
n=2; median=1.75; range=0.5–3
Age of onset
n=1; median=20; range=20–20
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1198T>C
cdna_numb_HGVS
1198
cdna_numb_legacy
1198
nt_change
T>C
n_bp
1
nuc_numb
1198
g_numb
g16
aa_numb_HGVS
400
aa_numb_legacy
400
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys400Arg
codon_first
TGC
codon_last
CGC
coordinate_GRCh38
133433483
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
205, 214, 220, 312

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
157 54 345 214 cTTP compound_heterozygous Japan female <20 unknown <0.5 unknown unknown unknown unknown
331 54 . 220 cTTP homozygous Germany unknown unknown unknown <3 unknown unknown none unknown