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Table 2 Pathogenic mutation c.1026dup p.(Asn343Glufs*27) with regard to all isoforms

From: Waardenburg syndrome type 2A in a large Iranian family with a novel MITF gene mutation

Transcript ID Coding impact Gene HGVS coding HGVS Protein Location Protein length
ENST00000352241.4 Frameshift MITF c.1026dup N343Efs*27
p.(Asn343Glufs*27)
Exon 9 520aa
ENST00000314557.6 Frameshift MITF c.705dup N236Efs*27
p.(Asn236Glufs*27)
Exon 8 413aa
ENST00000314589.5 Frameshift MITF c.978dup N327Efs*27
p.(Asn327Glufs*27)
Exon 9 504aa
ENST00000328528.6 Frameshift MITF c.1023dup N342Efs*27
p.(Asn342Glufs*27)
Exon 9 519aa
ENST00000394351.3 Frameshift MITF c.723dup N242Efs*27
p.(Asn242Glufs*27)
Exon 8 419aa
ENST00000394355.2 Frameshift MITF c.951dup N318Efs*27
p.(Asn318Glufs*27)
Exon 8 495aa
ENST00000448226.2 Frameshift MITF c.1044dup N349Efs*27
p.(Asn349Glufs*27)
Exon 9 526aa
ENST00000451708.1 Frameshift MITF c.996dup N333Efs*27
p.(Asn333Glufs*27)
Exon 9 361aa
ENST00000472437.1 Frameshift MITF c.870dup N291Efs*27
p.(Asn291Glufs*27)
Exon 9 468aa
ENST00000531774.1 Frameshift MITF c.537dup N180Efs*27
p.(Asn180Glufs*27)
Exon 8 357aa