Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999967441827 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM082579)
  • known disease mutation: rs16875 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:36142204G>AN/A show variant in all transcripts   IGV
HGNC symbol COX6B1
Ensembl transcript ID ENST00000246554
Genbank transcript ID NM_001863
UniProt peptide P14854
alteration type single base exchange
alteration region CDS
DNA changes c.59G>A
cDNA.251G>A
g.3080G>A
AA changes R20H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 20
frameshift no
known variant Reference ID: rs121909602
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC033

known disease mutation: rs16875 (pathogenic for Mitochondrial complex IV deficiency) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM082579)

known disease mutation at this position, please check HGMD for details (HGMD ID CM082579)
known disease mutation at this position, please check HGMD for details (HGMD ID CM082579)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.171
4.961
(flanking)0.8881
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased3076wt: 0.58 / mu: 0.98wt: TTGACAGCCGCTTCC
mu: TTGACAGCCACTTCC		 GACA|gccg
distance from splice site 48
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      20IKNYKTAPFDSRFPNQNQTRNCWQ
mutated  not conserved    20IKNYKTAPFDSHFPNQNQTRNCW
Ptroglodytes  all identical  ENSPTRG00000010854  23IKNYKTAPFDSRFPNQNQTRNCW
Mmulatta  all identical  ENSMMUG00000016765  21IKNYKTAPFDSRFPNQNQTRNCW
Fcatus  all identical  ENSFCAG00000006378  33IKNYQTAPFDSRFPNQNQTRNCW
Mmusculus  all identical  ENSMUSG00000036751  20IKNYKTAPFDSRFPNQNQTKNCW
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000016356  20LENYRTAPFDARFPNQNQTRNCW
Drerio  all identical  ENSDARG00000045230  20LENYRTAPFDARFPNQNQTRNCW
Dmelanogaster  all identical  FBgn0031066  33ETAPFDPRFPNQNVTRYCY
Celegans  all identical  Y71H2AM.5  56APYDARFPQVRKQRQCF
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
3030DISULFIDBy similarity.might get lost (downstream of altered splice site)
4040DISULFIDBy similarity.might get lost (downstream of altered splice site)
5454DISULFIDBy similarity.might get lost (downstream of altered splice site)
6565DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 261 / 261
position (AA) of stopcodon in wt / mu AA sequence 87 / 87
position of stopcodon in wt / mu cDNA 453 / 453
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 193 / 193
chromosome 19
strand 1
last intron/exon boundary 400
theoretical NMD boundary in CDS 157
length of CDS 261
coding sequence (CDS) position 59
cDNA position
(for ins/del: last normal base / first normal base)		 251
gDNA position
(for ins/del: last normal base / first normal base)		 3080
chromosomal position
(for ins/del: last normal base / first normal base)		 36142204
original gDNA sequence snippet GACCGCCCCTTTTGACAGCCGCTTCCCCAACCAGAACCAGA
altered gDNA sequence snippet GACCGCCCCTTTTGACAGCCACTTCCCCAACCAGAACCAGA
original cDNA sequence snippet GACCGCCCCTTTTGACAGCCGCTTCCCCAACCAGAACCAGA
altered cDNA sequence snippet GACCGCCCCTTTTGACAGCCACTTCCCCAACCAGAACCAGA
wildtype AA sequence MAEDMETKIK NYKTAPFDSR FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV
YQSLCPTSWV TDWDEQRAEG TFPGKI*
mutated AA sequence MAEDMETKIK NYKTAPFDSH FPNQNQTRNC WQNYLDFHRC QKAMTAKGGD ISVCEWYQRV
YQSLCPTSWV TDWDEQRAEG TFPGKI*
speed 0.87 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