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Search Results: 2 unique variants retrieved
p.Asp272Asn (Legacy AA No. 212)
Variant Type:
Point
Domain:
Serine Protease
Sequence Context:
GAC > AAC
Variant Effect:
Missense
Location:
Exon (9)
No of bases:
1
No. of patients reported:
8
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
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(p.Asp272_Leu273insLeuSerGluHisAsp) p.Leu273_Asp277dup (Legacy AA No. 212)
Variant Type:
Duplication
Domain:
Serine Protease
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon (9)
No of bases:
0
No. of patients reported:
1
Allele Frequency (MAF):
Molecular Graphics and Amino-acid Alignments
Structural Analysis cannot be performed for this type (Duplication | Frameshift) of the variant at Exon 9