Transcript #00000357 (NM_003828.2, MTMR1 gene)

Transcript name myotubularin related protein 1
Gene name MTMR1 (myotubularin related protein 1)
Chromosome X
Transcript - NCBI ID NM_003828.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_003819.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

26 entries on 1 page. Showing entries 1 - 26.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.253-4137G>A r.(=) p.(=)
?/. - c.328+158C>T r.(=) p.(=)
?/. - c.328+158C>T r.(=) p.(=)
?/. - c.643G>T r.(?) p.(Ala215Ser)
?/. - c.817G>T r.(?) p.(Asp273Tyr)
-?/. - c.1057-4G>A r.spl? p.?
?/. - c.1167G>C r.(?) p.(Glu389Asp)
-?/. - c.1902C>T r.(=) p.(=)
?/. - c.1902C>T r.(?) p.(=)
?/. - c.1902C>T r.(?) p.(=)
-?/. - c.1930G>A r.(?) p.(Val644Ile)
?/. - c.1949G>A r.(?) p.(Arg650Gln)
-?/. - c.1954T>C r.(?) p.(Ser652Pro)
-?/. - c.1960C>T r.(?) p.(Pro654Ser)
-?/. - c.1981G>A r.(?) p.(Val661Ile)
?/. - c.*9-464C>G r.(=) p.(=)
?/. - c.*9-464C>G r.(=) p.(=)
?/. - c.*9-282G>A r.(=) p.(=)
?/. - c.*9-282G>A r.(=) p.(=)
?/. - c.*144del r.(=) p.(=)
?/. - c.*144del r.(=) p.(=)
?/. - c.*152del r.(=) p.(=)
?/. - c.*152del r.(=) p.(=)
?/. - c.*365T>C r.(=) p.(=)
?/. - c.*365T>C r.(=) p.(=)
-?/. - c.*4562G>A r.(=) p.(=)
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