mutation t@sting

Gene

HGNC gene symbol, NCBI Gene ID, Ensembl gene ID show available transcripts

Transcript

Ensembl transcript ID

Position / snippet refers to

coding sequence (ORF) transcript (cDNA sequence) gene (genomic sequence)

Alteration

all types by sequence


enter a few bases around your alteration Format:
ACTGTC[A/T] GTGTF	A substituted by T
ACTGTC[AG/T] GTGTF	AG substituted by T
ACTGTC[ACGT/-] GTGTF	ACGT deleted
ACTGTC[-/AA] GTGTF	AA inserted

options
show nucleotide alignment

single base exchange by position

enter position
and new base

insertion or deletion by position

enter positions of
...last wild type base before alteration
...first wild type base after alteration
and the inserted bases	(if applicable)

Name of alteration

if you would like to have a name for this alteration in the output later on, please type in here

If you use MutationTaster, please cite our publication: Schwarz JM, Rödelsperger C, Schuelke M, Seelow D. MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods. 2010 Aug;7(8):575-6.
Current build: NCBI 37 / Ensembl 69