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 ENST00000350494
Genbank transcript ID NM_001242876
UniProt peptide Q6IA86
alteration type single base exchange
alteration region CDS
DNA changes c.1030G>A
cDNA.1044G>A
g.16525G>A
AA changes V344M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 344
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      344VFYKDGVLQQPVRLLSASMDKTMI
mutated  all conserved    344VFYKDGVLQQPMRLLSASMDKTM
Ptroglodytes  all conserved  ENSPTRG00000009977  305VFYKDGVLQQPMRLLSASMDKTM
Mmulatta  all conserved  ENSMMUG00000018785  306VFYKDGVLQQPMRLLSASMDKTM
Fcatus  no alignment  ENSFCAG00000008800  n/a
Mmusculus  all identical  ENSMUSG00000024271  304SFYKDGVLQQPVRLLSASMDKTM
Ggallus  all conserved  ENSGALG00000013203  302SFSKGGSMQQPMRILSASMDKTV
Trubripes  all conserved  ENSTRUG00000011088  304PTYKGGELQQQLSLLSASM
Drerio  all conserved  ENSDARG00000017199  299PSVKGDSVEQSLKLLSASMDKTM
Dmelanogaster  all conserved  FBgn0033540  313T------PDQELRLLSAS
Celegans  not conserved  Y111B2A.17  313---NDGRV-----LLTASSDKTC
Xtropicalis  all conserved  ENSXETG00000018920  362SFSRDGSIVQPMSLLSASMDKTM
protein features
start (aa)end (aa)featuredetails 
339378REPEATWD 7.lost
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 2466 / 2466
position (AA) of stopcodon in wt / mu AA sequence 822 / 822
position of stopcodon in wt / mu cDNA 2480 / 2480
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 15 / 15
chromosome 18
strand 1
last intron/exon boundary 2324
theoretical NMD boundary in CDS 2259
length of CDS 2466
coding sequence (CDS) position 1030
cDNA position
(for ins/del: last normal base / first normal base)		 1044
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 LWSKKGPEVT WKTGQVERGR AWKPPASLAL CSRSCDSMVS
CYASILCKAL WKEKLHTFWH HNRISFLPSA FRPIPILACG NDDCRIHIFA QQNDQFQKVL
SLCGHEDWIR GVEWAAFGRD LFLASCSQDC LIRIWKLYIK STSLETQDDD NIRLKENTFT
IENESVKIAF AVTLETVLAG HENWVNAVHW QPVFYKDGVL QQPVRLLSAS MDKTMILWAP
DEESGVWLEQ REWTPEIVIS GHFDGVQDLV WDPEGEFIIT VGTDQTTRLF APWKRKDQSQ
VTWHEIARPQ IHGYDLKCLA MINRFQFVSG ADEKVLRVFS APRNFVENFC AITGQSLNHV
LCNQDSDLPE GATVPALGLS NKAVFQGDIA SQPSDEEELL TSTGFEYQQV AFQPSILTEP
PTEDHLLQNT LWPEVQKLYG HGYEIFCVTC NSSKTLLASA CKAAKKEHAA IILWNTTSWK
QVQNLVFHSL TVTQMAFSPN EKFLLAVSRD RTWSLWKKQD TISPEFEPVF SLFAFTNKIT
SVHSRIIWSC DWSPDSKYFF TGSRDKKVVV WGECDSTDDC IEHNIGPCSS VLDVGGAVTA
VSVCPVLHPS QRYVVAVGLE CGKICLYTWK KTDQVPEIND WTHCVETSQS QSHTLAIRKL
CWKNCSGKTE QKEAEGAEWL HFASCGEDHT VKIHRVNKCA L*
mutated AA sequence MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVT WKTGQVERGR AWKPPASLAL CSRSCDSMVS
CYASILCKAL WKEKLHTFWH HNRISFLPSA FRPIPILACG NDDCRIHIFA QQNDQFQKVL
SLCGHEDWIR GVEWAAFGRD LFLASCSQDC LIRIWKLYIK STSLETQDDD NIRLKENTFT
IENESVKIAF AVTLETVLAG HENWVNAVHW QPVFYKDGVL QQPMRLLSAS MDKTMILWAP
DEESGVWLEQ REWTPEIVIS GHFDGVQDLV WDPEGEFIIT VGTDQTTRLF APWKRKDQSQ
VTWHEIARPQ IHGYDLKCLA MINRFQFVSG ADEKVLRVFS APRNFVENFC AITGQSLNHV
LCNQDSDLPE GATVPALGLS NKAVFQGDIA SQPSDEEELL TSTGFEYQQV AFQPSILTEP
PTEDHLLQNT LWPEVQKLYG HGYEIFCVTC NSSKTLLASA CKAAKKEHAA IILWNTTSWK
QVQNLVFHSL TVTQMAFSPN EKFLLAVSRD RTWSLWKKQD TISPEFEPVF SLFAFTNKIT
SVHSRIIWSC DWSPDSKYFF TGSRDKKVVV WGECDSTDDC IEHNIGPCSS VLDVGGAVTA
VSVCPVLHPS QRYVVAVGLE CGKICLYTWK KTDQVPEIND WTHCVETSQS QSHTLAIRKL
CWKNCSGKTE QKEAEGAEWL HFASCGEDHT VKIHRVNKCA L*
speed 0.64 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