Variant detail

mut_id 337 · c.2260T>C · p.Cys754Arg

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Evidence at a glance

7
Linked patients
7
Patient-variant records
2
Linked references
2
Countries reported
cTTP (7)
Common phenotype
homozygous (6)
Common zygosity

Summary

Point missense_variant Residue 754 AlphaMissense key C754R
HGVS
c.2260T>C
Protein change
p.Cys754Arg
rsID
rs1554791473
Location
exon 19
gnomAD AF
0.00000187
Domain
TSP type-1 3
Gene
ADAMTS13

External links

dbSNP

References

Complement activation associated with ADAMTS13 deficiency may contribute to the characteristic glomerular manifestations in Upshaw-Schulman syndrome
Authors: Itami H, Hara S, Matsumoto M, Imamura S, Kanai R, Nishiyama K, Ishimura M, Ohga S, Yoshida M, Tanaka R, Ogawa Y, Asada Y, Sekita-Hatakeyama Y, Hatakeyama K, Ohbayashi C.
Source: Thromb Res (2018)
Citation: Thromb Res. 2018 Oct;170:148-155. doi: 10.1016/j.thromres.2018.08.020. Epub 2018 Sep 1.
PubMed: 30195146 · DOI: 10.1016/j.thromres.2018.08.020
Transfusion-dependent anaemia of undetermined origin: a distinctive syndrome in paediatric medical tourism
Authors: Lee AC.
Source: Ann Acad Med Singap (2012)
Citation: Ann Acad Med Singap. 2012 Jul;41(7):305-8.
PubMed: 22892608

Amino-acid property change

Residue substitution
C → R at 754
AlphaMissense score
0.8703
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → basic
Typical protein position
buried → surface
Hydropathy index
2.5 → -4.5
Molecular weight
121.2 → 174.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
R · arginine
code: Arg
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: basic

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 754 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 3
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Portugal (5); UK (2)
Phenotype
cTTP (7)
Zygosity
homozygous (6); compound_heterozygous (1)
Sex
female (4); male (3)
Pregnancy-related
no (6); yes (1)
Triggers
infection (4); none (2); pregnancy (1)
Treatment
PI (5); on-demand PI (2)
ADAMTS13 activity
n=7; median=10; range=5–10
Age of onset
n=7; median=5; range=1–26
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2260T>C
cdna_numb_HGVS
2260
cdna_numb_legacy
2260
nt_change
T>C
n_bp
1
nuc_numb
2260
g_numb
g16
aa_numb_HGVS
754
aa_numb_legacy
754
aa_first
Cys
aa_last
Arg
aa_syn
p.Cys754Arg
codon_first
TGC
codon_last
CGC
gnomAD_AC
3
gnomAD_AN
1598838
gnomAD_AF
0.00000187
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
78, 138, 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
315 337 . 78 cTTP homozygous Portugal female 5 unknown <10 unknown no infection PI
316 337 . 78 cTTP homozygous Portugal female 5 unknown <10 unknown no infection PI
317 337 . 78 cTTP homozygous Portugal male 3 unknown <10 unknown no infection PI
318 337 . 78 cTTP homozygous Portugal male <1 unknown <10 unknown no infection PI
319 337 243 78 cTTP compound_heterozygous Portugal female 26 unknown <10 unknown yes pregnancy PI
361 337 . 138 cTTP homozygous UK female 5 unknown <5 unknown no none on-demand PI
362 337 . 138 cTTP homozygous UK male 3 unknown <5 unknown no none on-demand PI