View transcript #00000013

Transcript name BCS1-like (S. cerevisiae), transcript variant 2
Gene name BCS1L (BC1 (ubiquinol-cytochrome c reductase) synthesis-like)
Chromosome 2
Transcript - NCBI ID NM_001079866.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073335.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

17 entries on 1 page. Showing entries 1 - 17.
Legend  

Affects function     

Location     

Exon     

AscendingDNA change (cDNA)     

Position     

RNA change     

Protein     

PolyPhen     

GVS function     

Splice distance     

SIFT     
+?/+? - - c.-49-539T>A - r.(=) p.(=) - - - -
+/+ - 3/4 c.103G>C - r.(?) p.(Gly35Arg) probably_damaging(0.973) missense_variant - deleterious(0.01)
+/+ - 3/4 c.133C>T - r.(?) p.(Arg45Cys) probably_damaging(1) missense_variant - deleterious(0)
+/+ - 3/4 c.148A>G - r.(?) p.(Thr50Ala) probably_damaging(0.976) missense_variant - tolerated(0.07)
+/+ - 3/4 c.166C>T - r.(?) p.(Arg56*) - stop_gained - -
+/+ - 3/4 c.232A>G - r.(?) p.(Ser78Gly) benign(0.364) missense_variant - deleterious(0)
+/+ - 3/4 c.296C>T - r.(?) p.(Pro99Leu) probably_damaging(1) missense_variant - deleterious(0)
+?/+? - - c.320+1G>T - r.spl? p.? - splice_donor_variant - -
+?/+? - 4/9 c.431G>A - r.(?) p.(Arg144Gln) benign(0.427) missense_variant - deleterious(0.02)
+/+ - 5/9 c.464G>C - r.(?) p.(Arg155Pro) probably_damaging(0.993) missense_variant - deleterious(0)
+/+ - 5/9 c.547C>T - r.(?) p.(Arg183Cys) probably_damaging(0.998) missense_variant - deleterious(0)
+/+ - 5/9 c.548G>A - r.(?) p.(Arg183His) probably_damaging(0.994) missense_variant - deleterious(0)
+/+ - 5/9 c.550C>T - r.(?) p.(Arg184Cys) probably_damaging(0.953) missense_variant - deleterious(0.01)
+/+ - 7/9 c.830G>A - r.(?) p.(Ser277Asn) probably_damaging(0.97) missense_variant - deleterious(0)
?/? - 8/9 c.901T>A - r.(?) p.(Tyr301Asn) probably_damaging(0.936) missense_variant - deleterious(0.03)
+?/+? - 8/9 c.980T>C - r.(?) p.(Val327Ala) possibly_damaging(0.794) missense_variant - deleterious(0.01)
+/+ - 9/9 c.1057G>A - r.(?) p.(Val353Met) possibly_damaging(0.603) missense_variant - deleterious(0.04)
Legend