Variant detail

mut_id 345 · c.2723G>A · p.Cys908Tyr

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Evidence at a glance

10
Linked patients
10
Patient-variant records
8
Linked references
2
Countries reported
cTTP (10)
Common phenotype
compound_heterozygous (10)
Common zygosity

Summary

Point missense_variant Residue 908 AlphaMissense key C908Y
HGVS
c.2723G>A
Protein change
p.Cys908Tyr
rsID
rs281875301
Location
exon 21
gnomAD AF
0.00000126
Domain
TSP type-1 5
Gene
ADAMTS13

External links

dbSNP

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
[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
Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene
Authors: Krabbe JG, Kemna EW, Strunk AL, Jobse PA, Kramer PA, Dikkeschei LD, van den Heuvel LP, Fijnheer R, Verdonck LF.
Source: Int J Hematol (2015)
Citation: Int J Hematol. 2015 Oct;102(4):477-81. doi: 10.1007/s12185-015-1849-2. Epub 2015 Aug 13.
PubMed: 26267233 · DOI: 10.1007/s12185-015-1849-2
Experiences in a family with the Upshaw-Schulman syndrome over a 44-year period
Authors: Bennett M, Chubar Y, Gavish I, Aviv A, Stemer G, Chap-Marshak D.
Source: Clin Appl Thromb Hemost (2014)
Citation: Clin Appl Thromb Hemost. 2014 Apr;20(3):296-303. doi: 10.1177/1076029613495309. Epub 2013 Jul 19.
PubMed: 23872162 · DOI: 10.1177/1076029613495309
[From gene to disease; congenital thrombotic thrombocytopenic purpura due to mutations in the ADAMTS13 gene]
Authors: Schiphorst RH, van de Kar NC, van den Heuvel LP.
Source: Ned Tijdschr Geneeskd (2003)
Citation: Ned Tijdschr Geneeskd. 2003 Dec 6;147(49):2422-4.
PubMed: 14694551
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
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734
Thrombotic microangiopathy in a 17-year-old patient: TTP, HUS or a bit of both?
Authors: Gerth J, Busch M, Oyen F, Schneppenheim R, Keller T, Budde U, Groene HJ, Wolf G.
Source: Clin Nephrol (2007)
Citation: Clin Nephrol. 2007 Dec;68(6):405-11. doi: 10.5414/cnp68405.
PubMed: 18184524 · DOI: 10.5414/cnp68405

Amino-acid property change

Residue substitution
C → Y at 908
AlphaMissense score
0.8580
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
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 908 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 5
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (8); South Korea (2)
Phenotype
cTTP (10)
Zygosity
compound_heterozygous (10)
Sex
male (9); female (1)
Pregnancy-related
no (6); unknown (4)
Triggers
unknown (6); none (3); alcohol (1)
Treatment
PI (5); unknown (5); Splenectomy (1)
ADAMTS13 activity
n=10; median=1.75; range=0.5–3
Age of onset
n=8; median=9.5; range=1–46
Age of diagnosis
n=3; median=52; range=3–59
Platelet count
n=3; median=41; range=12–90

Variant fields

mut_syn_HGVS
c.2723G>A
cdna_numb_HGVS
2723
cdna_numb_legacy
2723
nt_change
G>A
n_bp
1
nuc_numb
2723
g_numb
g16
aa_numb_HGVS
908
aa_numb_legacy
908
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys908Tyr
codon_first
TGC
codon_last
TAC
gnomAD_AC
2
gnomAD_AN
1582032
gnomAD_AF
0.00000126
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
71, 93, 102, 122, 179, 205, 214, 269, 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
54 345 162 102 cTTP compound_heterozygous South Korea male 46 59 <3 unknown no unknown PI
55 345 162 102 cTTP compound_heterozygous South Korea male 45 52 <3 unknown no unknown PI
97 345 262 122 cTTP compound_heterozygous Japan male 6 unknown <3 unknown no none PI, Splenectomy
110 345 188 93 cTTP compound_heterozygous Japan male unknown unknown <0.5 unknown no alcohol unknown
141 345 332 214 cTTP compound_heterozygous Japan male <4 unknown <0.5 41 unknown unknown unknown
146 345 285 214 cTTP compound_heterozygous Japan male <9 unknown <0.5 12 unknown unknown unknown
147 345 285 214 cTTP compound_heterozygous Japan male <10 unknown <0.5 90 unknown unknown unknown
157 345 54 214 cTTP compound_heterozygous Japan female <20 unknown <0.5 unknown unknown unknown unknown
235 345 300 269 cTTP compound_heterozygous Japan male <1 3 <3 unknown no none PI
271 345 332 179 cTTP compound_heterozygous Japan male unknown unknown <3 unknown no none PI