Variant detail

mut_id 261 · c.3638G>A · p.Cys1213Tyr

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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 Pathogenic Residue 121 AlphaMissense key C121Y
HGVS
c.3638G>A
Protein change
p.Cys1213Tyr
rsID
rs121908474
ClinVar ID
5808
Location
exon 26
gnomAD AF
6.20E-07
Domain
Metalloprotease
Gene
ADAMTS13

External links

dbSNP ClinVar

References

Congenital thrombotic thrombocytopenic purpura related to a novel mutation in ADAMTS13 gene and management during pregnancy
Authors: Epperla N, Hemauer K, Friedman KD, George JN, Foy P.
Source: Am J Hematol (2016)
Citation: Am J Hematol. 2016 Jun;91(6):644-6. doi: 10.1002/ajh.24311.
PubMed: 26822222 · DOI: 10.1002/ajh.24311
Mutations and common polymorphisms in ADAMTS13 gene responsible for von Willebrand factor-cleaving protease activity
Authors: Kokame K, Matsumoto M, Soejima K, Yagi H, Ishizashi H, Funato M, Tamai H, Konno M, Kamide K, Kawano Y, Miyata T, Fujimura Y.
Source: Proc Natl Acad Sci U S A (2002)
Citation: Proc Natl Acad Sci U S A. 2002 Sep 3;99(18):11902-7. doi: 10.1073/pnas.172277399. Epub 2002 Aug 14.
PubMed: 12181489 · DOI: 10.1073/pnas.172277399
The first deletion mutation in the TSP1-6 repeat domain of ADAMTS13 in a family with inherited thrombotic thrombocytopenic purpura
Authors: Palla R, Lavoretano S, Lombardi R, Garagiola I, Karimi M, Afrasiabi A, Ramzi M, De Cristofaro R, Peyvandi F.
Source: Haematologica (2009)
Citation: Haematologica. 2009 Feb;94(2):289-93. doi: 10.3324/haematol.13524. Epub 2008 Dec 30.
PubMed: 19116307 · DOI: 10.3324/haematol.13524

Amino-acid property change

Residue substitution
C → Y at 121
AlphaMissense score
Not available
No local AlphaMissense row found for C121Y.
Hydrophobicity
hydrophilic → hydrophobic
Charge
neutral → neutral (unchanged)
Polarity
polar → polar (unchanged)
Size
medium → large
Residue type
Unknown → aromatic
Typical protein position
buried → surface
Hydropathy index
2.5 → -1.3
Molecular weight
121.2 → 181.2
Original residue details
C · cysteine
code: Cys
hydro: hydrophilic
charge: neutral
polarity: polar
size: medium
type:
Variant residue details
Y · tyrosine
code: Tyr
hydro: hydrophobic
charge: neutral
polarity: polar
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 121 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: Metalloprotease
Domain colours match the homepage domain viewer.

Patient summary

Countries represented
Norway (1)
Phenotype
cTTP (1)
Zygosity
compound_heterozygous (1)
Sex
male (1)
Pregnancy-related
no (1)
Triggers
unknown (1)
Treatment
PI (1)
ADAMTS13 activity
n=1; median=1.8; range=1.8–1.8
Age of onset
n=1; median=51; range=51–51
Age of diagnosis
Not available
Platelet count
Not available

Variant fields

mut_syn_HGVS
c.3638G>A
cdna_numb_HGVS
3638
cdna_numb_legacy
3638
nt_change
G>A
n_bp
1
nuc_numb
3638
g_numb
g16
aa_numb_HGVS
121
aa_numb_legacy
121
aa_first
Cys
aa_last
Tyr
aa_syn
p.Cys1213Tyr
codon_first
TGT
codon_last
TAT
gnomAD_AC
1
gnomAD_AN
1613358
gnomAD_AF
6.20E-07
clinvar_id
5808
clinvar_classification
Pathogenic
g_id
g16
g_name
ADAMTS13
comments
Pathogenic
refState
complete
ref_id
95, 188, 264

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
69 261 343 95 cTTP compound_heterozygous Norway male 51 unknown 1.8 unknown no unknown PI