Variant detail

mut_id 297 · c.911A>G · p.Tyr304Cys

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Evidence at a glance

1
Linked patients
1
Patient-variant records
3
Linked references
1
Countries reported
cTTP (1)
Common phenotype
compound_heterozygous (1)
Common zygosity

Summary

Point missense_variant Uncertain significance Residue 304 AlphaMissense key Y304C
HGVS
c.911A>G
Protein change
p.Tyr304Cys
rsID
rs281875285
ClinVar ID
68829
GRCh38 coordinate
133430025
Location
exon 8
gnomAD AF
0.00000251
Domain
Disintegrin
Gene
ADAMTS13

External links

dbSNP ClinVar gnomAD

References

Inherited Thrombotic Thrombocytopenic Purpura Revealed by Recurrent Strokes in a Male Adult: Case Report and Literature Review
Authors: Beauvais D, Venditti L, Chassin O, Joly B, Ameri A, Boisseau P, Lambotte O, Coppo P, Veyradier A, Denier C.
Source: J Stroke Cerebrovasc Dis (2019)
Citation: J Stroke Cerebrovasc Dis. 2019 Jun;28(6):1537-1539. doi: 10.1016/j.jstrokecerebrovasdis.2019.03.011. Epub 2019 Mar 28.
PubMed: 30930238 · DOI: 10.1016/j.jstrokecerebrovasdis.2019.03.011
Application of high-throughput sequencing for hereditary thrombocytopenia in southwestern China
Authors: Zhang L, Yu J, Xian Y, Wen X, Guan X, Guo Y, Luo M, Dou Y.
Source: J Clin Lab Anal (2021)
Citation: J Clin Lab Anal. 2021 Aug;35(8):e23896. doi: 10.1002/jcla.23896. Epub 2021 Jul 8.
PubMed: 34237177 · DOI: 10.1002/jcla.23896
A Single Synonymous Variant (c.354G>A [p.P118P]) in ADAMTS13 Confers Enhanced Specific Activity
Authors: Hunt R, Hettiarachchi G, Katneni U, Hernandez N, Holcomb D, Kames J, Alnifaidy R, Lin B, Hamasaki-Katagiri N, Wesley A, Kafri T, Morris C, Bouché L, Panico M, Schiller T, Ibla J, Bar H, Ismail A, Morris H, Komar A, Kimchi-Sarfaty C.
Source: Int J Mol Sci (2019)
Citation: Int J Mol Sci. 2019 Nov 15;20(22):5734. doi: 10.3390/ijms20225734.
PubMed: 31731663 · DOI: 10.3390/ijms20225734

Amino-acid property change

Residue substitution
Y → C at 304
AlphaMissense score
0.3634
Uncertain
CSV class: Amb
Hydrophobicity
hydrophobic → hydrophilic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
large → medium
Residue type
aromatic → Unknown
Typical protein position
surface → buried
Hydropathy index
-1.3 → 2.5
Molecular weight
181.2 → 121.2
Original residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
size: large
type: aromatic
Variant residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
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 304 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Disintegrin
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Japan (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
female (1)
Pregnancy-related
unknown (1)
Triggers
unknown (1)
Treatment
unknown (1)
ADAMTS13 activity
n=1; median=0.5; range=0.5–0.5
Age of onset
n=1; median=7; range=7–7
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.911A>G
cdna_numb_HGVS
911
cdna_numb_legacy
911
nt_change
A>G
n_bp
1
nuc_numb
911
g_numb
g16
aa_numb_HGVS
304
aa_numb_legacy
304
aa_first
Tyr
aa_last
Cys
aa_syn
p.Tyr304Cys
codon_first
TAC
codon_last
TGC
coordinate_GRCh38
133430025
gnomAD_AC
4
gnomAD_AN
1592376
gnomAD_AF
0.00000251
clinvar_id
68829
clinvar_classification
Uncertain significance
g_id
g16
g_name
ADAMTS13
comments
not provided
refState
complete
ref_id
71, 205, 214

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
144 297 77 214 cTTP compound_heterozygous Japan female <7 unknown <0.5 unknown unknown unknown unknown