Variant detail

mut_id 138 · c.3251G>A · p.Cys1084Tyr

Back Advanced search Full table

Evidence at a glance

3
Linked patients
3
Patient-variant records
2
Linked references
1
Countries reported
cTTP (3)
Common phenotype
compound_heterozygous (3)
Common zygosity

Summary

Point missense_variant Residue 1084 AlphaMissense key C1084Y
HGVS
c.3251G>A
Protein change
p.Cys1084Tyr
GRCh38 coordinate
133455286
Location
exon 25
Domain
TSP type-1 8
Gene
ADAMTS13

External links

gnomAD

References

Upshaw-Schulman Syndrome
Authors: Ahmad R, Natiq M, Aziz M.
Source: J Coll Physicians Surg Pak (2015)
Citation: J Coll Physicians Surg Pak. 2015 Oct;25 Suppl 2:S97-9. doi: 10.2015/JCPSP.S9799.
PubMed: 26522217 · DOI: 10.2015/JCPSP.S9799
Successful treatment of congenital TTP with a novel approach using plasma-derived factor VIII
Authors: Naik S, Mahoney DH.
Source: J Pediatr Hematol Oncol (2013)
Citation: J Pediatr Hematol Oncol. 2013 Oct;35(7):551-3. doi: 10.1097/MPH.0b013e3182755c38.
PubMed: 23128332 · DOI: 10.1097/MPH.0b013e3182755c38

Amino-acid property change

Residue substitution
C → Y at 1084
AlphaMissense score
0.8975
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 1084 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 8
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Italy (3)
Phenotype
cTTP (3)
Zygosity
compound_heterozygous (3)
Sex
male (2); female (1)
Pregnancy-related
no (3)
Triggers
none (2); infection (1)
Treatment
unknown (2); PI (1)
ADAMTS13 activity
n=3; median=3; range=1.7–6
Age of onset
n=2; median=6.5; range=1–12
Age of diagnosis
n=2; median=43; range=12–74
Platelet count
n=3; median=9; range=5–66

Variant fields

mut_syn_HGVS
c.3251G>A
cdna_numb_HGVS
3251
cdna_numb_legacy
3251
nt_change
G>A
n_bp
1
nuc_numb
3251
g_numb
g16
aa_numb_HGVS
1084
aa_numb_legacy
1084
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys1084Tyr
codon_first
TGC
codon_last
TAC
coordinate_GRCh38
133455286
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
98, 134, 321, 327

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
48 138 227 98 cTTP compound_heterozygous Italy male 12 12 <3 9 no none unknown
120 138 294 134 cTTP compound_heterozygous Italy male 1 unknown <6 5 no infection PI
278 138 87 327 cTTP compound_heterozygous Italy female unknown 74 1.7 66 no none unknown