Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 4.39044341992632e-06 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:54661150C>TN/A show variant in all transcripts   IGV
HGNC symbol CYB5RL
Ensembl transcript ID ENST00000401046
Genbank transcript ID N/A
UniProt peptide Q6IPT4
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.117G>A
g.4560G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs946448
databasehomozygous (T/T)heterozygousallele carriers
1000G28210201302
ExAC77151733725052
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0670.756
1.270.75
(flanking)0.7510.687
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -85) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased4562wt: 0.65 / mu: 0.89wt: CAAGGTGGGAGGCAG
mu: CAAAGTGGGAGGCAG		 AGGT|ggga
Donor marginally increased4561wt: 0.3878 / mu: 0.4311 (marginal change - not scored)wt: GCAAGGTGGGAGGCA
mu: GCAAAGTGGGAGGCA		 AAGG|tggg
Donor marginally increased4555wt: 0.9810 / mu: 0.9947 (marginal change - not scored)wt: GATCTGGCAAGGTGG
mu: GATCTGGCAAAGTGG		 TCTG|gcaa
distance from splice site 59
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
1955DOMAINOxidoreductase-like.might get lost (downstream of altered splice site)
75177DOMAINFAD-binding FR-type.might get lost (downstream of altered splice site)
157172NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
182214NP_BINDFAD (By similarity).might get lost (downstream of altered splice site)
267267CONFLICTH -> P (in Ref. 3; CD515193).might get lost (downstream of altered splice site)
301301CONFLICTC -> W (in Ref. 3; CD515193).might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 379 / 379
chromosome 1
strand -1
last intron/exon boundary 679
theoretical NMD boundary in CDS 250
length of CDS 504
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 117
gDNA position
(for ins/del: last normal base / first normal base)		 4560
chromosomal position
(for ins/del: last normal base / first normal base)		 54661150
original gDNA sequence snippet CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA
altered gDNA sequence snippet CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA
original cDNA sequence snippet CTATCACCGAGATCTGGCAAGGTGGGAGGCAGCCCAAGCCA
altered cDNA sequence snippet CTATCACCGAGATCTGGCAAAGTGGGAGGCAGCCCAAGCCA
wildtype AA sequence MGLMSRYVES WRVGDTAFWR GPFGDFFYKP NQYGELLLLA AGTGLAPMVP ILQSITDNEN
DETFVTLVGC FKTFESIYLK TFLQEQARFW NVRTFFVLSQ ESSSEQLPWS YQEKTHFGHL
GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT EDSYFLF*
mutated AA sequence N/A
speed 0.83 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