Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99955460275933 (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) chr18:33725931G>AN/A show variant in all transcripts   IGV
HGNC symbol ELP2
Ensembl transcript ID ENST00000358232
Genbank transcript ID NM_018255
UniProt peptide Q6IA86
alteration type single base exchange
alteration region CDS
DNA changes c.913G>A
cDNA.976G>A
g.16525G>A
AA changes V305M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 305
frameshift no
known variant Reference ID: rs1785928
databasehomozygous (A/A)heterozygousallele carriers
1000G29910131312
ExAC74581785125309
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.2270.993
-0.4920.955
(flanking)4.2411
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased16517wt: 0.8249 / mu: 0.8502 (marginal change - not scored)wt: CCTACAGCAGCCAGT
mu: CCTACAGCAGCCAAT		 TACA|gcag
Donor increased16528wt: 0.65 / mu: 0.76wt: CAGTGAGATTATTAT
mu: CAATGAGATTATTAT		 GTGA|gatt
Donor increased16520wt: 0.72 / mu: 0.99wt: ACAGCAGCCAGTGAG
mu: ACAGCAGCCAATGAG		 AGCA|gcca
Donor gained165210.32mu: CAGCAGCCAATGAGA GCAG|ccaa
distance from splice site 21
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      305VFYKDGVLQQPVRLLSASMDKTMI
mutated  all conserved    305LQQPMRLLSASMDKTM
Ptroglodytes  all conserved  ENSPTRG00000009977  305LQQPMRLLSASMDKTM
Mmulatta  all conserved  ENSMMUG00000018785  306VLQQPMRLLSASMDKTM
Fcatus  no alignment  ENSFCAG00000008800  n/a
Mmusculus  all identical  ENSMUSG00000024271  304LQQPVRLLSASMDKTM
Ggallus  all conserved  ENSGALG00000013203  300SMQQPMRILSASMDKTV
Trubripes  all conserved  ENSTRUG00000011088  300PTYKGGELQQQLSLLSASMDKTM
Drerio  all conserved  ENSDARG00000017199  295SVEQSLKLLSASMDKTM
Dmelanogaster  all conserved  FBgn0033540  310T------PDQELRLLSASIDKTV
Celegans  not conserved  Y111B2A.17  313---NDGRV-----LLTASSDKTC
Xtropicalis  all conserved  ENSXETG00000018920  362GSIVQPMSLLSASMDKTM
protein features
start (aa)end (aa)featuredetails 
281329REPEATWD 6.lost
302302CONFLICTQ -> R (in Ref. 4; CAG33550).might get lost (downstream of altered splice site)
339378REPEATWD 7.might get lost (downstream of altered splice site)
376376CONFLICTR -> G (in Ref. 3; BAB14193).might get lost (downstream of altered splice site)
386425REPEATWD 8.might get lost (downstream of altered splice site)
436474REPEATWD 9.might get lost (downstream of altered splice site)
565609REPEATWD 10.might get lost (downstream of altered splice site)
590590CONFLICTK -> E (in Ref. 2; AAQ03093).might get lost (downstream of altered splice site)
612651REPEATWD 11.might get lost (downstream of altered splice site)
667706REPEATWD 12.might get lost (downstream of altered splice site)
698698CONFLICTE -> V (in Ref. 1; AAK97355 and 3; BAB14193).might get lost (downstream of altered splice site)
712753REPEATWD 13.might get lost (downstream of altered splice site)
777826REPEATWD 14.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2481 / 2481
position (AA) of stopcodon in wt / mu AA sequence 827 / 827
position of stopcodon in wt / mu cDNA 2544 / 2544
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 64 / 64
chromosome 18
strand 1
last intron/exon boundary 2388
theoretical NMD boundary in CDS 2274
length of CDS 2481
coding sequence (CDS) position 913
cDNA position
(for ins/del: last normal base / first normal base)		 976
gDNA position
(for ins/del: last normal base / first normal base)		 16525
chromosomal position
(for ins/del: last normal base / first normal base)		 33725931
original gDNA sequence snippet ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC
altered gDNA sequence snippet ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC
original cDNA sequence snippet ATGGTGTCCTACAGCAGCCAGTGAGATTATTATCTGCTTCC
altered cDNA sequence snippet ATGGTGTCCTACAGCAGCCAATGAGATTATTATCTGCTTCC
wildtype AA sequence MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVPILAC
GNDDCRIHIF AQQNDQFQKV LSLCGHEDWI RGVEWAAFGR DLFLASCSQD CLIRIWKLYI
KSTSLETQDD DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV
LQQPVRLLSA SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA
FHGALHLWKQ NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR
KDQSQVTWHE IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ
SLNHVLCNQD SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS
ILTEPPTEDH LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN
TTSWKQVQNL VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF
TNKITSVHSR IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG
GAVTAVSVCP VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL
AIRKLCWKNC SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*
mutated AA sequence MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVPILAC
GNDDCRIHIF AQQNDQFQKV LSLCGHEDWI RGVEWAAFGR DLFLASCSQD CLIRIWKLYI
KSTSLETQDD DNIRLKENTF TIENESVKIA FAVTLETVLA GHENWVNAVH WQPVFYKDGV
LQQPMRLLSA SMDKTMILWA PDEESGVWLE QVRVGEVGGN TLGFYDCQFN EDGSMIIAHA
FHGALHLWKQ NTVNPREWTP EIVISGHFDG VQDLVWDPEG EFIITVGTDQ TTRLFAPWKR
KDQSQVTWHE IARPQIHGYD LKCLAMINRF QFVSGADEKV LRVFSAPRNF VENFCAITGQ
SLNHVLCNQD SDLPEGATVP ALGLSNKAVF QGDIASQPSD EEELLTSTGF EYQQVAFQPS
ILTEPPTEDH LLQNTLWPEV QKLYGHGYEI FCVTCNSSKT LLASACKAAK KEHAAIILWN
TTSWKQVQNL VFHSLTVTQM AFSPNEKFLL AVSRDRTWSL WKKQDTISPE FEPVFSLFAF
TNKITSVHSR IIWSCDWSPD SKYFFTGSRD KKVVVWGECD STDDCIEHNI GPCSSVLDVG
GAVTAVSVCP VLHPSQRYVV AVGLECGKIC LYTWKKTDQV PEINDWTHCV ETSQSQSHTL
AIRKLCWKNC SGKTEQKEAE GAEWLHFASC GEDHTVKIHR VNKCAL*
speed 0.24 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