Variant detail

mut_id 264 · c.3656G>A · p.Arg1219Gln

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Evidence at a glance

3
Linked patients
3
Patient-variant records
4
Linked references
3
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (3)
Common zygosity

Summary

Point missense_variant Likely pathogenic Residue 121 AlphaMissense key R121Q
HGVS
c.3656G>A
Protein change
p.Arg1219Gln
rsID
rs782649881
ClinVar ID
1163512
Location
exon 26
gnomAD AF
0.00002417
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

Hereditary Thrombotic Thrombocytopenic Purpura in a 9-Month-old: Diagnosing and Managing an Ultra-rare Disorder
Authors: Wyatt KD, Kohorst MA, Coon LM, Hurley RM, van Dorland HA, Arndt CAS.
Source: J Pediatr Hematol Oncol (2021)
Citation: J Pediatr Hematol Oncol. 2021 May 1;43(4):e577-e579. doi: 10.1097/MPH.0000000000001830.
PubMed: 32496441 · DOI: 10.1097/MPH.0000000000001830
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
[Novel ADAMTS13 compound heterozygous mutation in a patient with hereditary thrombotic thrombocytopenic purpura]
Authors: Wang CY, Fang XY, Shen Q.
Source: Zhonghua Er Ke Za Zhi (2016)
Citation: Zhonghua Er Ke Za Zhi. 2016 May;54(5):387-8. doi: 10.3760/cma.j.issn.0578-1310.2016.05.017.
PubMed: 27143085 · DOI: 10.3760/cma.j.issn.0578-1310.2016.05.017
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
R → Q at 121
AlphaMissense score
Not available
No local AlphaMissense row found for R121Q.
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
basic → Unknown
Typical protein position
surface → surface (unchanged)
Hydropathy index
-4.5 → -3.5
Molecular weight
174.2 → 146.1
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
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 121 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
USA (1); Switzerland (1); UK (1)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
female (3)
Pregnancy-related
no (1); unknown (1); yes (1)
Triggers
none (1); unknown (1); pregnancy (1)
Treatment
unknown (3)
ADAMTS13 activity
n=2; median=4.5; range=3–6
Age of onset
n=1; median=16; range=16–16
Age of diagnosis
Not available
Platelet count
n=1; median=41; range=41–41

Variant fields

mut_syn_HGVS
c.3656G>A
cdna_numb_HGVS
3656
cdna_numb_legacy
3656
nt_change
G>A
n_bp
1
nuc_numb
3656
g_numb
g16
aa_numb_HGVS
121
aa_numb_legacy
121
aa_first
Arg
aa_last
Gln
aa_syn
p.Arg1219Gln
codon_first
CGG
codon_last
CAG
gnomAD_AC
39
gnomAD_AN
1613420
gnomAD_AF
0.00002417
clinvar_id
1163512
clinvar_classification
Likely pathogenic
g_id
g16
g_name
ADAMTS13
comments
Uncertain significance
refState
complete
ref_id
56, 72, 93, 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
22 264 94 56 cTTP compound_heterozygous USA female 16 6 41 no none unknown
105 264 330 93 cTTP compound_heterozygous Switzerland female unknown unknown 3 unknown unknown unknown unknown
183 264 330 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown