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Search Results: 3 unique variants retrieved


Variant No. 269
p.(Trp401Arg) Legacy AA No. 383
Variant Type:
Point
Genomic:
23194T>C
Domain:
Serine Protease
Codon Change:
TGG > CGG
Variant Effect:
Missense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is structural information available.

Individual Case Information : Show

Variant No. 270
p.(Trp401*) Legacy AA No. 383
Variant Type:
Point
Genomic:
23195G>A
Domain:
Serine Protease
Codon Change:
TGG > TAG
Variant Effect:
Nonsense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
3
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 11

Individual Case Information : Show

Variant No. 271
p.(Trp401*) Legacy AA No. 383
Variant Type:
Point
Genomic:
23196G>A
Domain:
Serine Protease
Codon Change:
TGG > TGA
Variant Effect:
Nonsense
Location:
Exon (11)
No of bases:
1
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Point | Nonsense) of the variant at Exon 11

Individual Case Information : Show