Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.993132466074601 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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 ENST00000287899
Genbank transcript ID N/A
UniProt peptide Q6IPT4
alteration type single base exchange
alteration region CDS
DNA changes c.140G>A
cDNA.205G>A
g.4560G>A
AA changes R47K Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 47
frameshift no
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
effectgDNA positionscorewt detection 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? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      47CVFDLYHRDLARWEAAQASKDRSL
mutated  all conserved    47CVFDLYHRDLAKWEAAQASKDRS
Ptroglodytes  all identical  ENSPTRG00000000766  47CVFDLYHRDLARWEAARASKDRS
Mmulatta  no alignment  ENSMMUG00000015949  n/a
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000028621  46CVFDLYYRDLERWETARARNDRS
Ggallus  no alignment  ENSGALG00000010758  n/a
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  all identical  FBgn0030995  44CILDNKPRPSKR--VLLAGKRNV
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1955DOMAINOxidoreductase-like.lost
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 normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 744 / 744
position (AA) of stopcodon in wt / mu AA sequence 248 / 248
position of stopcodon in wt / mu cDNA 809 / 809
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 66 / 66
chromosome 1
strand -1
last intron/exon boundary 606
theoretical NMD boundary in CDS 490
length of CDS 744
coding sequence (CDS) position 140
cDNA position
(for ins/del: last normal base / first normal base)		 205
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 MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLARWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT
EDSYFLF*
mutated AA sequence MMAEREEDDD TEEAWMQLRP TEPLPSQCCG SGCSPCVFDL YHRDLAKWEA AQASKDRSLL
RGPESQSCPS KLNPETFVAF CIIAMDRLTK DTYRVRFALP GNSQLGLRPG QHLILRGIVD
DLEIQRAYTP ISPANAEGYF EVLIKCYQMG LMSRYVESWR VGDTAFWRGP FGDFFYKPNQ
ESSSEQLPWS YQEKTHFGHL GQDLIKELVS CCRRKPFALV CGSAEFTKDI ARCLLCAGLT
EDSYFLF*
speed 0.74 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