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  Search Results: 6 unique variants retrieved



  c.1331A>G
p.(Lys444Arg) (Legacy AA No.425)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > AGA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1331_1332delAAinsT
p.(Lys444Metfs*37) (Legacy AA No.425)
Variant Type:
Indel
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
2
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Indel | Frameshift) of mutation at Exon 9

Individual Case Information : Show


  c.1331_1332delAA
p.(Lys444Serfs*9) (Legacy AA No.425)
Variant Type:
Deletion
Domain:
A2
Sequence Context:
Variant Effect:
Frameshift
Location:
Exon 9
No of bases:
2
No. of cases reported:
1
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Structural Analysis cannot be performed for this type (Deletion | Frameshift) of mutation at Exon 9

Individual Case Information : Show


  c.1331A>C
p.(Lys444Thr) (Legacy AA No.425)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > ACA
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
2
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1332A>T
p.(Lys444Asn) (Legacy AA No.425)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > AAT
Variant Effect:
Missense
Location:
Exon 9
No of bases:
1
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

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Individual Case Information : Show


  c.1332A>C
p.(Lys444Asn) (Legacy AA No.425)
Variant Type:
Point
Domain:
A2
Sequence Context:
AAA > AAC
Variant Effect:
Missense
Location:
Exon 9
No of bases:
No. of cases reported:
4
Allele Frequency (MAF):

Molecular Graphics and Amino-acid Alignments

Please click to see if there is the available information.

Individual Case Information : Show