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 |