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Search Results: 11 unique variants retrieved
p.Pro194Thr (Legacy AA No. 134)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
CCA > ACA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
4
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Cys195Arg (Legacy AA No. 135)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
TGT > CGT
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
14
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Lys197Glu (Legacy AA No. 137)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
AAA > GAA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Ile198Thr (Legacy AA No. 138)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
ACA > ATA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Ile200Ser (Legacy AA No. 140)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
AGT > ATT
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Arg212* (Legacy AA No. 152)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
CGA > TGA
Variant Effect:
Nonsense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
11
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 7
Patient Information : Show
p.Arg212Gln (Legacy AA No. 152)
Variant Type:
Point
Domain:
Activation Peptide
Sequence Context:
CGA > CAA
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
14
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Val214Gly (Legacy AA No. 154)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGG > GTG
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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p.Gly216Alafs*17 (Legacy AA No. 156)
Variant Type:
Deletion
Domain:
Serine Protease
Sequence Context:
delG
Variant Effect:
Frameshift
Location:
Exon (7)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Deletion | Frameshift) of the variant at Exon 7
Patient Information : Show
p.Gly216Asp (Legacy AA No. 156)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GGC > GAC
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
2
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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Patient Information : Show
p.Gln227His (Legacy AA No. 167)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
CAGgt > CATgt
Variant Effect:
Missense
Location:
Exon (7)
No of bases:
1
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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to see if there is the available information.