Variant detail

mut_id 125 · c.2930G>T · p.Cys977Phe

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Evidence at a glance

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

Summary

Point missense_variant Residue 977 AlphaMissense key C977F
HGVS
c.2930G>T
Protein change
p.Cys977Phe
GRCh38 coordinate
133449851
Location
exon 23
Domain
TSP type-1 6
Gene
ADAMTS13

External links

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
ADAMTS13 and its variants promote angiogenesis via upregulation of VEGF and VEGFR2
Authors: Lee M, Keener J, Xiao J, Long Zheng X, Rodgers GM.
Source: Cell Mol Life Sci (2015)
Citation: Cell Mol Life Sci. 2015 Jan;72(2):349-56. doi: 10.1007/s00018-014-1667-3. Epub 2014 Jun 21.
PubMed: 24950743 · DOI: 10.1007/s00018-014-1667-3

Amino-acid property change

Residue substitution
C → F at 977
AlphaMissense score
0.8986
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → nonpolar
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → buried (unchanged)
Hydropathy index
2.5 → 2.8
Molecular weight
121.2 → 165.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
F · phenylalanine
code: Phe
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 977 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: TSP type-1 6
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (2)
Phenotype
cTTP (2)
Zygosity
homozygous (2)
Sex
female (2)
Pregnancy-related
yes (2)
Triggers
pregnancy (2)
Treatment
unknown (2)
ADAMTS13 activity
n=1; median=5; range=5–5
Age of onset
n=1; median=24; range=24–24
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.2930G>T
cdna_numb_HGVS
2930
cdna_numb_legacy
2930
nt_change
G>T
n_bp
1
nuc_numb
2930
g_numb
g16
aa_numb_HGVS
977
aa_numb_legacy
977
aa_first
Cys
aa_last
Phe
aa_syn
p.Cys977Phe
codon_first
TGT
codon_last
TTT
coordinate_GRCh38
133449851
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
138, 239

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
171 125 . 239 cTTP homozygous UK female unknown unknown unknown unknown yes pregnancy unknown
352 125 . 138 cTTP homozygous UK female 24 unknown <5 unknown yes pregnancy unknown