Variant detail

mut_id 370 · c.3746G>T · p.Gly1249Val

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Evidence at a glance

1
Linked patients
1
Patient-variant records
0
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Residue 1249 AlphaMissense key G1249V
HGVS
c.3746G>T
Protein change
p.Gly1249Val
GRCh38 coordinate
133457931
Location
exon 28
Domain
CUB 1
Gene
ADAMTS13

External links

gnomAD

References

No references linked via ref_id / all_references / reference.

Amino-acid property change

Residue substitution
G → V at 1249
AlphaMissense score
Not available
No local AlphaMissense row found for G1249V.
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
small → medium
Residue type
aliphatic → aliphatic (unchanged)
Typical protein position
surface → buried
Hydropathy index
-0.4 → 4.2
Molecular weight
75.1 → 117.1
Original residue details
G · glycine
code: Gly
hydro: hydrophobic
charge: neutral
polarity: polar
size: small
type: aliphatic
Variant residue details
V · valine
code: Val
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: medium
type: aliphatic

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 1249 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 1
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
China (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
yes (1)
Triggers
pregnancy (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=4.8; range=4.8–4.8
Age of onset
n=1; median=21; range=21–21
Age of diagnosis
n=1; median=33; range=33–33
Platelet count
n=1; median=7; range=7–7

Variant fields

mut_syn_HGVS
c.3746G>T
cdna_numb_HGVS
3746
cdna_numb_legacy
3746
nt_change
G>T
n_bp
1
nuc_numb
3746
g_numb
g16
aa_numb_HGVS
1249
aa_numb_legacy
1249
aa_first
Gly
aa_last
Val
aa_syn
p.Gly1249Val
codon_first
GGG
codon_last
GTG
coordinate_GRCh38
133457931
g_id
g16
g_name
ADAMTS13
comments
Reported at amino acid 1305, converted to 1249
refState
complete
ref_id
329

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
281 370 310 329 cTTP compound_heterozygous China female 21 33 4.8 7 yes pregnancy unknown