Variant detail

mut_id 157 · c.3988G>C · p.Ala1330Pro

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Evidence at a glance

0
Linked patients
0
Patient-variant records
1
Linked references
0
Countries reported
—
Common phenotype
—
Common zygosity

Summary

Point missense_variant Residue 1330 AlphaMissense key A1330P
HGVS
c.3988G>C
Protein change
p.Ala1330Pro
GRCh38 coordinate
133459052
Location
exon 29
Domain
CUB 2
Gene
ADAMTS13

External links

gnomAD

References

Adult-onset congenital thrombotic thrombocytopenic purpura caused by a novel compound heterozygous mutation of the ADAMTS13 gene
Authors: Krabbe JG, Kemna EW, Strunk AL, Jobse PA, Kramer PA, Dikkeschei LD, van den Heuvel LP, Fijnheer R, Verdonck LF.
Source: Int J Hematol (2015)
Citation: Int J Hematol. 2015 Oct;102(4):477-81. doi: 10.1007/s12185-015-1849-2. Epub 2015 Aug 13.
PubMed: 26267233 · DOI: 10.1007/s12185-015-1849-2

Amino-acid property change

Residue substitution
A → P at 1330
AlphaMissense score
Not available
No local AlphaMissense row found for A1330P.
Hydrophobicity
hydrophobic → hydrophobic (unchanged)
Charge
neutral → neutral (unchanged)
Polarity
nonpolar → nonpolar (unchanged)
Size
small → medium
Residue type
aliphatic → Unknown
Typical protein position
buried → surface
Hydropathy index
1.8 → -1.6
Molecular weight
89.1 → 115.1
Original residue details
A · alanine
code: Ala
hydro: hydrophobic
charge: neutral
polarity: nonpolar
size: small
type: aliphatic
Variant residue details
P · proline
code: Pro
hydro: hydrophobic
charge: neutral
polarity: nonpolar
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 1330 highlighted in red.
AlphaFold Q76LX8 ADAMTS13 structure
Domain: CUB 2
Domain colours match the homepage domain viewer.

Patient summary

No linked patients found for this variant.

Variant fields

mut_syn_HGVS
c.3988G>C
cdna_numb_HGVS
3988
cdna_numb_legacy
3988
nt_change
G>C
n_bp
1
nuc_numb
3988
g_numb
g16
aa_numb_HGVS
1330
aa_numb_legacy
1330
aa_first
Ala
aa_last
Pro
aa_syn
p.Ala1330Pro
codon_first
GCT
codon_last
CCT
coordinate_GRCh38
133459052
g_id
g16
g_name
ADAMTS13
refState
complete
ref_id
102

Patients linked by mut_id

No linked patients found.