Variant detail

mut_id 311 · c.1201G>A · p.Gly401Arg

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Evidence at a glance

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

Summary

Point missense_variant Uncertain significance Residue 401 AlphaMissense key G401R
HGVS
c.1201G>A
Protein change
p.Gly401Arg
rsID
rs782033728
ClinVar ID
2152073
GRCh38 coordinate
133433486
Location
exon 10
gnomAD AF
0.00000371
Domain
TSP type-1 1
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Congenital thrombotic thrombocytopenic purpura presenting in adulthood with recurrent cerebrovascular events
Authors: Tenison E, Asif A, Sheridan M.
Source: BMJ Case Rep (2019)
Citation: BMJ Case Rep. 2019 Oct 3;12(10):e229481. doi: 10.1136/bcr-2019-229481.
PubMed: 31585956 · DOI: 10.1136/bcr-2019-229481
The International Hereditary Thrombotic Thrombocytopenic Purpura Registry: key findings at enrollment until 2017
Authors: van Dorland HA, Taleghani MM, Sakai K, Friedman KD, George JN, Hrachovinova I, Knöbl PN, von Krogh AS, Schneppenheim R, Aebi-Huber I, Bütikofer L, Largiadèr CR, Cermakova Z, Kokame K, Miyata T, Yagi H, Terrell DR, Vesely SK, Matsumoto M, Lämmle B, Fujimura Y, Kremer Hovinga JA; Hereditary TTP Registry.
Source: Haematologica (2019)
Citation: Haematologica. 2019 Oct;104(10):2107-2115. doi: 10.3324/haematol.2019.216796. Epub 2019 Feb 21.
PubMed: 30792199 · DOI: 10.3324/haematol.2019.216796
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3

Amino-acid property change

Residue substitution
G → R at 401
AlphaMissense score
0.7704
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
small → large
Residue type
aliphatic → basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-0.4 → -4.5
Molecular weight
75.1 → 174.2
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
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 401 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
India (1); UK (1)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
male (1); female (1)
Pregnancy-related
no (1); yes (1)
Triggers
none (1); pregnancy (1)
Treatment
PI (1); unknown (1)
ADAMTS13 activity
n=1; median=3; range=3–3
Age of onset
n=1; median=21; range=21–21
Age of diagnosis
n=1; median=21; range=21–21
Platelet count
n=1; median=49; range=49–49

Variant fields

mut_syn_HGVS
c.1201G>A
cdna_numb_HGVS
1201
cdna_numb_legacy
1201
nt_change
G>A
n_bp
1
nuc_numb
1201
g_numb
g16
aa_numb_HGVS
401
aa_numb_legacy
401
aa_first
Gly
aa_last
Arg
aa_syn
p.Gly401Arg
codon_first
GGA
codon_last
AGA
coordinate_GRCh38
133433486
gnomAD_AC
6
gnomAD_AN
1613396
gnomAD_AF
0.00000371
clinvar_id
2152073
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
67, 72, 239, 332

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
45 311 253 67 cTTP compound_heterozygous India male 21 21 <3 49 no none PI
180 311 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown