Transcript #00000382

Transcript name acyl-CoA dehydrogenase, long chain
Gene name ACADL (acyl-CoA dehydrogenase, long chain)
Chromosome 2
Transcript - NCBI ID NM_001608.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_001599.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

22 entries on 1 page. Showing entries 1 - 22.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
./. - - c.7G>T p.(Ala3Ser) - - - -
./. - - c.86A>G p.(His29Arg) - - - -
./. - - c.94G>A p.(Gly32Arg) - - - -
./. - - c.113C>T p.(Thr38Ile) - - - -
./. - - c.233+13T>C p.(=) - - - -
./. - - c.253G>A p.(Val85Ile) - - - -
./. - - c.374C>T p.(Ala125Val) - - - -
./. - - c.603+11A>G p.(=) - - - -
./. - - c.621G>T p.(=) - - - -
./. - - c.629G>A p.(Ser210Asn) - - - -
./. - - c.651G>A p.(=) - - - -
./. - - c.654C>T p.(=) - - - -
./. - - c.939T>C p.(=) - - - -
./. - - c.992A>G p.(Gln331Arg) - - - -
?/? - 9/11 c.997A>C p.(Lys333Gln) probably_damaging(0.965) missense_variant - tolerated(0.06)
./. - - c.997A>C p.(Lys333Gln) - - - -
./. - - c.1144G>A p.(Asp382Asn) - - - -
./. - - c.*530T>C p.(=) - - - -
./. - - c.*621G>A p.(=) - - - -
./. - - c.*711G>A p.(=) - - - -
./. - - c.*724T>C p.(=) - - - -
./. - - c.*928A>G p.(=) - - - -
Legend