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Search Results: 2 unique variants retrieved


Variant No. 287
p.(Gln424*) Legacy AA No. 406
Variant Type:
Point
Genomic:
23263C>T
Domain:
Serine Protease
Codon Change:
CAG > TAG
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

Variant No. 288
p.(Gln424Pro) Legacy AA No. 406
Variant Type:
Point
Genomic:
23264A>C
Domain:
Serine Protease
Codon Change:
CAG > CCG
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