Variant detail

mut_id 262 · c.3650T>C · p.Ile1217Thr

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Evidence at a glance

5
Linked patients
5
Patient-variant records
6
Linked references
4
Countries reported
cTTP (5)
Common phenotype
compound_heterozygous (4)
Common zygosity

Summary

Point missense_variant Pathogenic Residue 121 AlphaMissense key I121T
HGVS
c.3650T>C
Protein change
p.Ile1217Thr
rsID
rs200847393
ClinVar ID
1343360
Location
exon 26
gnomAD AF
0.00001921
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

Thrombotic thrombocytopenic purpura as a rare cause of anemia with thrombocytopenia in childhood: report of 2 cases
Authors: Köker O, Yıldırmak ZY, Genç DB, Kılıçaslan Ö.
Source: Turk J Pediatr (2019)
Citation: Turk J Pediatr. 2019;61(3):418-423. doi: 10.24953/turkjped.2019.03.015.
PubMed: 31916721 · DOI: 10.24953/turkjped.2019.03.015
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
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
Regional UK TTP registry: correlation with laboratory ADAMTS 13 analysis and clinical features
Authors: Scully M, Yarranton H, Liesner R, Cavenagh J, Hunt B, Benjamin S, Bevan D, Mackie I, Machin S.
Source: Br J Haematol (2008)
Citation: Br J Haematol. 2008 Sep;142(5):819-26. doi: 10.1111/j.1365-2141.2008.07276.x. Epub 2008 Jul 8.
PubMed: 18637802 · DOI: 10.1111/j.1365-2141.2008.07276.x
Genetic variants in the ADAMTS13 and SUPT3H genes are associated with ADAMTS13 activity
Authors: de Vries PS, Boender J, Sonneveld MA, Rivadeneira F, Ikram MA, Rottensteiner H, Hofman A, Uitterlinden AG, Leebeek FW, Franco OH, Dehghan A, de Maat MP.
Source: Blood (2015)
Citation: Blood. 2015 Jun 18;125(25):3949-55. doi: 10.1182/blood-2015-02-629865. Epub 2015 May 1.
PubMed: 25934476 · DOI: 10.1182/blood-2015-02-629865

Amino-acid property change

Residue substitution
I → T at 121
AlphaMissense score
Not available
No local AlphaMissense row found for I121T.
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → polar
Size
large → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
4.5 → -0.7
Molecular weight
131.2 → 119.1
Original residue details
I · isoleucine
code: Ile
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: large
type: aliphatic
Variant residue details
T · threonine
code: Thr
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 121 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
South Korea (2); China (1); Japan (1); Spain (1)
Phenotype
cTTP (5)
Zygosity
compound_heterozygous (4); homozygous (1)
Sex
male (3); female (2)
Pregnancy-related
no (5)
Triggers
none (3); unknown (1); infection (1)
Treatment
unknown (3); none (1); PI (1); Splenectomy (1)
ADAMTS13 activity
n=5; median=3; range=3–10
Age of onset
n=5; median=1; range=1–6
Age of diagnosis
n=4; median=3.5; range=1–7
Platelet count
n=4; median=11; range=9–13

Variant fields

mut_syn_HGVS
c.3650T>C
cdna_numb_HGVS
3650
cdna_numb_legacy
3650
nt_change
T>C
n_bp
1
nuc_numb
3650
g_numb
g16
aa_numb_HGVS
121
aa_numb_legacy
121
aa_first
Ile
aa_last
Thr
aa_syn
p.Ile1217Thr
codon_first
ATT
codon_last
ACT
gnomAD_AC
31
gnomAD_AN
1613472
gnomAD_AF
0.00001921
clinvar_id
1343360
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
63, 71, 102, 122, 158, 237

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
26 262 . 63 cTTP homozygous China female <1 <1 10 12 no none unknown
53 262 60 102 cTTP compound_heterozygous South Korea female <1 5 <3 13 no unknown none
97 262 345 122 cTTP compound_heterozygous Japan male 6 unknown <3 unknown no none PI, Splenectomy
165 262 170 237 cTTP compound_heterozygous Spain male 1 2 <5 9 no infection unknown
310 262 214 158 cTTP compound_heterozygous South Korea male <1 7 <3 10 no none unknown