Variant detail

mut_id 112 · c.3070T>G · p.Cys1024Gly

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Evidence at a glance

5
Linked patients
5
Patient-variant records
8
Linked references
4
Countries reported
cTTP (5)
Common phenotype
homozygous (4)
Common zygosity

Summary

Point missense_variant Pathogenic/Likely pathogenic Residue 894 AlphaMissense key C894G
HGVS
c.3070T>G
Protein change
p.Cys1024Gly
rsID
rs121908472
ClinVar ID
5803
GRCh38 coordinate
133454440
Location
exon 24
gnomAD AF
1.61E-05
Domain
Inter-domain / unassigned region
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Global prevalence of hereditary thrombotic thrombocytopenic purpura determined by genetic analysis
Authors: Seidizadeh O, Cairo A, Mancini I, George JN, Peyvandi F.
Source: Blood Adv (2024)
Citation: Blood Adv. 2024 Aug 27;8(16):4386-4396. doi: 10.1182/bloodadvances.2024013421.
PubMed: 38935915 · DOI: 10.1182/bloodadvances.2024013421
Unusually high ADAMTS13 activity in a patient with congenital thrombotic thrombocytopenic purpura
Authors: Subhan MO, de Groot R, Scully M.
Source: Br J Haematol (2023)
Citation: Br J Haematol. 2023 Mar;200(5):673-675. doi: 10.1111/bjh.18581. Epub 2022 Nov 28.
PubMed: 36444480 · DOI: 10.1111/bjh.18581
Upshaw-Schulman Syndrome with a Novel Deletion in Exon 17 of ADAMTS 13 Gene
Authors: John BM, Kumar S, Saxena A.
Source: Indian J Pediatr (2022)
Citation: Indian J Pediatr. 2022 Apr;89(4):402-403. doi: 10.1007/s12098-021-04047-2. Epub 2022 Jan 23.
PubMed: 35066806 · DOI: 10.1007/s12098-021-04047-2
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
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
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399
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

Amino-acid property change

Residue substitution
C → G at 894
AlphaMissense score
Not available
No local AlphaMissense row found for C894G.
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Unknown → aliphatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.4
Molecular weight
121.2 → 75.1
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic

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 894 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Inter-domain / unassigned region
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Democratic Republic of the Congo (2); Saudi Arabia (1); Montserrat (1); USA (1)
Phenotype
cTTP (5)
Zygosity
homozygous (4); compound_heterozygous (1)
Sex
female (3); male (2)
Pregnancy-related
no (4); yes (1)
Triggers
none (3); pregnancy (1); infection (1)
Treatment
on-demand PI (2); PI (1); recADAMTS13 (1); Koate (1)
ADAMTS13 activity
n=5; median=3.2; range=1–5
Age of onset
n=2; median=14.5; range=1–28
Age of diagnosis
n=5; median=8; range=1–58
Platelet count
n=3; median=35; range=7–38

Variant fields

mut_syn_HGVS
c.3070T>G
cdna_numb_HGVS
3070
cdna_numb_legacy
3070
nt_change
T>G
n_bp
1
nuc_numb
3070
g_numb
g16
aa_numb_HGVS
894
aa_numb_legacy
894
aa_first
Cys
aa_last
Gly
aa_syn
p.Cys1024Gly
codon_first
TGT
codon_last
GGT
coordinate_GRCh38
133454440
gnomAD_AC
26
gnomAD_AN
1613814
gnomAD_AF
1.61E-05
clinvar_id
5803
clinvar_classification
Pathogenic/Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
2, 24, 33, 48, 71, 72, 188, 205, 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
6 112 . 24 cTTP homozygous Saudi Arabia female 28 28 <5 35 yes pregnancy PI
9 112 . 33 cTTP homozygous Montserrat female childhood 58 <5 38 no none recADAMTS13
220 112 248 2 cTTP compound_heterozygous USA female 1 1 1 7 no infection Koate
373 112 . 48 cTTP homozygous Democratic Republic of the Congo male unknown 8 3.2 unknown no none on-demand PI
374 112 . 48 cTTP homozygous Democratic Republic of the Congo male unknown 8 2.9 unknown no none on-demand PI