Variant detail

mut_id 67 · c.1368G>T · p.Gln456His

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Evidence at a glance

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

Summary

Point missense_variant Benign/Likely Benign Residue 456 AlphaMissense key Q456H
HGVS
c.1368G>T
Protein change
p.Gln456His
rsID
rs36220239
ClinVar ID
262426
GRCh38 coordinate
133436888
Location
exon 12
gnomAD AF
0.002818
Domain
Cysteine-rich
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

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
Q → H at 456
AlphaMissense score
0.1739
Likely benign
CSV class: LBen
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → postive
Polarity
polar → polar (unchanged)
Size
large → large (unchanged)
Residue type
Unknown → aromatic/basic
Typical protein position
surface → surface (unchanged)
Hydropathy index
-3.5 → -3.2
Molecular weight
146.1 → 155.2
Original residue details
Q · glutamine
code: Gln
hydro: hydrophilic
charge: neutral
polarity: polar
size: large
type:
Variant residue details
H · histidine
code: His
hydro: hydrophilic
charge: postive
polarity: polar
size: large
type: aromatic/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 456 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Cysteine-rich
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
infection (1)
Treatment
on-demand PI (1)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=10; range=10–10
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.1368G>T
cdna_numb_HGVS
1368
cdna_numb_legacy
1368
nt_change
G>T
n_bp
1
nuc_numb
1368
g_numb
g16
aa_numb_HGVS
456
aa_numb_legacy
456
aa_first
Gln
aa_last
His
aa_syn
p.Gln456His
codon_first
CAG
codon_last
CAT
coordinate_GRCh38
133436888
gnomAD_AC
4471
gnomAD_AN
1586750
gnomAD_AF
0.002818
clinvar_id
262426
clinvar_classification
Benign/Likely Benign
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
138

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
364 67 296 138 cTTP compound_heterozygous UK male 10 unknown <5 unknown no infection on-demand PI