Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999978940631721 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012738)
  • known disease mutation: rs6166 (pathogenic)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:219527906G>AN/A show variant in all transcripts   IGV
HGNC symbol BCS1L
Ensembl transcript ID ENST00000392110
Genbank transcript ID NM_001257342
UniProt peptide Q9Y276
alteration type single base exchange
alteration region CDS
DNA changes c.1057G>A
cDNA.1266G>A
g.4420G>A
AA changes V353M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 353
frameshift no
known variant Reference ID: rs121908574
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs6166 (pathogenic for Mitochondrial complex III deficiency, nuclear type 1) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012738)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012738)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012738)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.6040.839
3.0150.999
(flanking)4.9141
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      353IRPGRVDLKEYVGYCSHWQLTQMF
mutated  all conserved    353IRPGRVDLKEYMGYCSHWQ
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000006740  353IRPGRVDLKEYVGYCSHWQ
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000026172  353IRPGRVDLKEYVGYCSHWQ
Ggallus  all identical  ENSGALG00000011386  354VRPGRVDLKQYVGHCSRG
Trubripes  all conserved  ENSTRUG00000006343  354IRPGRVDMKQYIGYCTEW
Drerio  all identical  ENSDARG00000012295  354VRPGRVDLKQYVGHCSHW
Dmelanogaster  all conserved  FBgn0032195  354VRPGRIDLKEYIGYCTQY
Celegans  not conserved  F54C9.6  373IRPGRVDRKQYFGNATDGML
Xtropicalis  all identical  ENSXETG00000013844  353IRPGRVDVKQYVGYCTHWQ
protein features
start (aa)end (aa)featuredetails 
33419TOPO_DOMMitochondrial matrix (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1260 / 1260
position (AA) of stopcodon in wt / mu AA sequence 420 / 420
position of stopcodon in wt / mu cDNA 1469 / 1469
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 210 / 210
chromosome 2
strand 1
last intron/exon boundary 1217
theoretical NMD boundary in CDS 957
length of CDS 1260
coding sequence (CDS) position 1057
cDNA position
(for ins/del: last normal base / first normal base)		 1266
gDNA position
(for ins/del: last normal base / first normal base)		 4420
chromosomal position
(for ins/del: last normal base / first normal base)		 219527906
original gDNA sequence snippet GAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGG
altered gDNA sequence snippet GAGTGGACCTGAAGGAGTACATGGGCTACTGCTCACACTGG
original cDNA sequence snippet GAGTGGACCTGAAGGAGTACGTGGGCTACTGCTCACACTGG
altered cDNA sequence snippet GAGTGGACCTGAAGGAGTACATGGGCTACTGCTCACACTGG
wildtype AA sequence MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY
AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE
MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG
YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI
TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK
YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYVGYCSHWQ
LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR*
mutated AA sequence MPLSDFILAL KDNPYFGAGF GLVGVGTALA LARKGVQLGL VAFRRHYMIT LEVPARDRSY
AWLLSWLTRH STRTQHLSVE TSYLQHESGR ISTKFEFVPS PGNHFIWYRG KWIRVERSRE
MQMIDLQTGT PWESVTFTAL GTDRKVFFNI LEEARELALQ QEEGKTVMYT AVGSEWRPFG
YPRRRRPLNS VVLQQGLADR IVRDVQEFID NPKWYTDRGI PYRRGYLLYG PPGCGKSSFI
TALAGELEHS ICLLSLTDSS LSDDRLNHLL SVAPQQSLVL LEDVDAAFLS RDLAVENPVK
YQGLGRLTFS GLLNALDGVA STEARIVFMT TNHVDRLDPA LIRPGRVDLK EYMGYCSHWQ
LTQMFQRFYP GQAPSLAENF AEHVLRATNQ ISPAQVQGYF MLYKNDPVGA IHNAESLRR*
speed 1.19 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project