Variant detail

mut_id 303 · c.1045C>T · p.Arg349Cys

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Evidence at a glance

5
Linked patients
5
Patient-variant records
7
Linked references
2
Countries reported
cTTP (5)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point missense_variant Pathogenic Residue 349 AlphaMissense key R349C
HGVS
c.1045C>T
Protein change
p.Arg349Cys
rsID
rs281875288
ClinVar ID
68799
GRCh38 coordinate
133432645
Location
exon 9
gnomAD AF
0.00000320
Domain
Disintegrin
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

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
Upshaw-Schulman Syndrome
Authors: John BM, Singh D, Ravichander B, Madan R, Raghu Raman TS.
Source: Med J Armed Forces India (2010)
Citation: Med J Armed Forces India. 2010 Apr;66(2):188-9. doi: 10.1016/S0377-1237(10)80149-2. Epub 2011 Jul 21.
PubMed: 27375335 · DOI: 10.1016/S0377-1237(10)80149-2
ADAMTS13 gene mutations in children with hemolytic uremic syndrome
Authors: Choi HS, Cheong HI, Kim NK, Oh D, Park HW.
Source: Yonsei Med J (2011)
Citation: Yonsei Med J. 2011 May;52(3):530-4. doi: 10.3349/ymj.2011.52.3.530.
PubMed: 21488199 · DOI: 10.3349/ymj.2011.52.3.530
Reference 295
PA 4.19-4Characterization of hereditary thromboticthrombocytopenic purpura (TTP) from one of bloodcenters in China
Authors: Bai X, Su J, Cao L, Yu Z, Wang Z and Ruan C
Source: ISTH 2013 (2013)
Citation: ISTH 2013
PubMed: ISTH 2013
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
R → C at 349
AlphaMissense score
0.5701
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
postive → neutral
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
basic → Unknown
Typical protein position
surface → buried
Hydropathy index
-4.5 → 2.5
Molecular weight
174.2 → 121.2
Original residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 349 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (3); Poland (2)
Phenotype
cTTP (5)
Zygosity
compound_heterozygous (4); homozygous (1)
Sex
female (3); male (2)
Pregnancy-related
no (4); yes (1)
Triggers
none (4); pregnancy (1)
Treatment
PI (3); unknown (1); PEX (1)
ADAMTS13 activity
n=5; median=3; range=1–5
Age of onset
n=5; median=16; range=1–22
Age of diagnosis
n=3; median=22; range=21–30
Platelet count
n=3; median=24; range=9–34

Variant fields

mut_syn_HGVS
c.1045C>T
cdna_numb_HGVS
1045
cdna_numb_legacy
1045
nt_change
C>T
n_bp
1
nuc_numb
1045
g_numb
g16
aa_numb_HGVS
349
aa_numb_legacy
349
aa_first
Arg
aa_last
Cys
aa_syn
p.Arg349Cys
codon_first
CGC
codon_last
TGC
coordinate_GRCh38
133432645
gnomAD_AC
5
gnomAD_AN
1559654
gnomAD_AF
0.00000320
clinvar_id
68799
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
71, 72, 149, 256, 295, 311, 312, 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
46 303 372 331 cTTP compound_heterozygous China female 18 30 <5 24 no none unknown
217 303 . 256 cTTP homozygous China female 22 22 <5 9 yes pregnancy PEX
222 303 131 149 cTTP compound_heterozygous Poland female <1 unknown <3 unknown no none PI
223 303 131 149 cTTP compound_heterozygous Poland male <1 unknown <3 unknown no none PI
259 303 65 295 cTTP compound_heterozygous China male 16 21 <1 34 no none PI