Variant detail

mut_id 40 · c.794G>C · p.Cys265Ser

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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
compound_heterozygous (2)
Common zygosity

Summary

Point missense_variant Uncertain signiificance Residue 265 AlphaMissense key C265S
HGVS
c.794G>C
Protein change
p.Cys265Ser
ClinVar ID
2690839
GRCh38 coordinate
133428741
Location
exon 7
gnomAD AF
0.00000294
Domain
Metalloprotease
Gene
ADAMTS13

External links

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
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 → S at 265
AlphaMissense score
0.9253
Likely pathogenic
CSV class: LPath
Hydrophobicity
hydrophilic → hydrophilic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → small
Residue type
Not available
Typical protein position
buried → surface
Hydropathy index
2.5 → -0.8
Molecular weight
121.2 → 105.0
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant 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 265 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
UK (2)
Phenotype
cTTP (2)
Zygosity
compound_heterozygous (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=23; range=23–23
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.794G>C
cdna_numb_HGVS
794
cdna_numb_legacy
794
nt_change
G>C
n_bp
1
nuc_numb
794
g_numb
g16
aa_numb_HGVS
265
aa_numb_legacy
265
aa_first
Cys
aa_last
Ser
aa_syn
p.Cys265Ser
codon_first
TGC
codon_last
TCC
coordinate_GRCh38
133428741
gnomAD_AC
4
gnomAD_AN
1357094
gnomAD_AF
0.00000294
clinvar_id
2690839
clinvar_classification
Uncertain signiificance
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
174 40 133 239 cTTP compound_heterozygous UK female unknown unknown unknown unknown yes pregnancy unknown
349 40 133 138 cTTP compound_heterozygous UK female 23 unknown <5 unknown yes pregnancy unknown