Variant detail

mut_id 263 · c.3655C>T · p.Arg1219Trp

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Evidence at a glance

7
Linked patients
7
Patient-variant records
5
Linked references
4
Countries reported
cTTP (7)
Common phenotype
heterozygous (3)
Common zygosity

Summary

Point missense_variant Not provided Residue 121 AlphaMissense key R121W
HGVS
c.3655C>T
Protein change
p.Arg1219Trp
rsID
rs281875339
ClinVar ID
68818
Location
exon 26
gnomAD AF
0.00000433
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

Case of maternal and fetal deaths due to severe congenital thrombotic thrombocytopenic purpura (Upshaw-Schulman syndrome) during pregnancy
Authors: Tanaka H, Tenkumo C, Mori N, Kokame K, Fujimura Y, Hata T.
Source: J Obstet Gynaecol Res (2014)
Citation: J Obstet Gynaecol Res. 2014 Jan;40(1):247-9. doi: 10.1111/jog.12125. Epub 2013 Aug 12.
PubMed: 23937165 · DOI: 10.1111/jog.12125
[Thrombotic thrombocytopenic purpura in a newborn]
Authors: Sudour H, Rouabah M, Mansuy L, Bordigoni P, Hascoet JM.
Source: Arch Pediatr (2007)
Citation: Arch Pediatr. 2007 Jan;14(1):39-42. doi: 10.1016/j.arcped.2006.10.016. Epub 2006 Nov 28.
PubMed: 17137768 · DOI: 10.1016/j.arcped.2006.10.016
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
Congenital late onset thrombotic thrombocytopenic purpura: a diagnostic challenge
Authors: Enjeti AK, Chapman K, Taylor PJ, Meldrum C.
Source: Pathology (2015)
Citation: Pathology. 2015 Oct;47(6):585-6. doi: 10.1097/PAT.0000000000000303.
PubMed: 26352112 · DOI: 10.1097/PAT.0000000000000303
Two newborn-onset patients of Upshaw-Schulman syndrome with distinct subsequent clinical courses
Authors: Tanabe S, Yagi H, Kimura T, Isonishi A, Kato S, Yoshida Y, Hayakawa M, Matsumoto M, Ohtaki S, Takahashi Y, Fujimura Y.
Source: Int J Hematol (2012)
Citation: Int J Hematol. 2012 Dec;96(6):789-97. doi: 10.1007/s12185-012-1221-8. Epub 2012 Nov 28.
PubMed: 23188471 · DOI: 10.1007/s12185-012-1221-8

Amino-acid property change

Residue substitution
R → W at 121
AlphaMissense score
Not available
No local AlphaMissense row found for R121W.
Hydrophobicity
hydrophilic → hydrophobic
Charge
postive → neutral
Polarity
polar → nonpolar
Size
large → large (unchanged)
Residue type
basic → aromatic
Typical protein position
surface → buried
Hydropathy index
-4.5 → -0.9
Molecular weight
174.2 → 204.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
W · tryptophan
code: Trp
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aromatic

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
Israel (2); Italy (2); Germany (2); India (1)
Phenotype
cTTP (7)
Zygosity
heterozygous (3); compound_heterozygous (2); homozygous (2)
Sex
male (7)
Pregnancy-related
no (7)
Triggers
none (4); infection (2); unknown (1)
Treatment
PI (3); none (2); unknown (2); Splenectomy (1)
ADAMTS13 activity
n=7; median=3; range=1–7
Age of onset
n=7; median=1; range=1–35
Age of diagnosis
n=1; median=26; range=26–26
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3655C>T
cdna_numb_HGVS
3655
cdna_numb_legacy
3655
nt_change
C>T
n_bp
1
nuc_numb
3655
g_numb
g16
aa_numb_HGVS
121
aa_numb_legacy
121
aa_first
Arg
aa_last
Trp
aa_syn
p.Arg1219Trp
codon_first
CGG
codon_last
TGG
gnomAD_AC
7
gnomAD_AN
1613402
gnomAD_AF
0.00000433
clinvar_id
68818
clinvar_classification
Not provided
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
121, 163, 220, 233, 246

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
95 263 239 121 cTTP compound_heterozygous Israel male <1 unknown <1 unknown no infection PI
96 263 239 121 cTTP compound_heterozygous Israel male 1 unknown <1 unknown no unknown PI, Splenectomy
205 263 . 233 cTTP homozygous Italy male 35 unknown <6 unknown no none none
206 263 . 233 cTTP homozygous Italy male 28 unknown <6 unknown no none none
229 263 263 246 cTTP heterozygous India male 26 26 <7 unknown no infection PI
332 263 . 220 cTTP heterozygous Germany male <1 unknown <3 unknown no none unknown
333 263 . 220 cTTP heterozygous Germany male <1 unknown <3 unknown no none unknown