Variant detail

mut_id 131 · c.3107C>A · p.Ser1036Ter

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Evidence at a glance

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

Summary

Point missense_variant Residue 1036
HGVS
c.3107C>A
Protein change
p.Ser1036Ter
GRCh38 coordinate
133454477
Location
exon 24
Domain
TSP type-1 7
Gene
ADAMTS13

External links

gnomAD

References

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

Amino-acid property change

Residue substitution
S → * at 1036
AlphaMissense score
Not available
Available for missense amino-acid substitutions only.
Hydrophobicity
hydrophilic → Unknown
Charge
neutral → Unknown
Polarity
polar → Unknown
Size
small → Unknown
Residue type
Not available
Typical protein position
surface → Unknown
Hydropathy index
-0.8 → Unknown
Molecular weight
105.0 → Unknown
Original residue details
S · serine
code: Ser
hydro: hydrophilic
charge: neutral
polarity: polar
size: small
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 1036 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 7
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Poland (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (2)
Sex
female (1); male (1)
Pregnancy-related
no (2)
Triggers
none (2)
Treatment
PI (2)
ADAMTS13 activity
n=2; median=3; range=3–3
Age of onset
n=2; median=1; range=1–1
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3107C>A
cdna_numb_HGVS
3107
cdna_numb_legacy
3107
nt_change
C>A
n_bp
1
nuc_numb
3107
g_numb
g16
aa_numb_HGVS
1036
aa_numb_legacy
1036
aa_first
Ser
aa_last
Ter
aa_syn
p.Ser1036Ter
codon_first
TCG
codon_last
TAG
coordinate_GRCh38
133454477
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
149

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
222 131 303 149 cTTP compound_heterozygous Poland female <1 unknown <3 unknown no none PI
223 131 303 149 cTTP compound_heterozygous Poland male <1 unknown <3 unknown no none PI