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 ENST00000442325
Genbank transcript ID NM_001242875
UniProt peptide Q6IA86
alteration type single base exchange
alteration region CDS
DNA changes c.1108G>A
cDNA.1144G>A
g.16525G>A
AA changes V370M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 370
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      370VFYKDGVLQQPVRLLSASMDKTMI
mutated  all conserved    370YKDGVLQQPMRLLSASMDKTM
Ptroglodytes  all conserved  ENSPTRG00000009977  305YKDGVLQQPMRLLSASMDKTM
Mmulatta  all conserved  ENSMMUG00000018785  306FYKDGVLQQPMRLLSASMDKTM
Fcatus  no alignment  ENSFCAG00000008800  n/a
Mmusculus  all identical  ENSMUSG00000024271  304SFYKDGVLQQPVRLLSASMDKTM
Ggallus  all conserved  ENSGALG00000013203  300SFSKGGSMQQPMRILSASMDKTV
Trubripes  all conserved  ENSTRUG00000011088  300PTYKGGELQQQLSLLSASMDKTM
Drerio  all conserved  ENSDARG00000017199  295PSVKGDSVEQSLKLLSASMDKTM
Dmelanogaster  all conserved  FBgn0033540  310T------PDQELRLLSASIDKTV
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 2676 / 2676
position (AA) of stopcodon in wt / mu AA sequence 892 / 892
position of stopcodon in wt / mu cDNA 2712 / 2712
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 37 / 37
chromosome 18
strand 1
last intron/exon boundary 2556
theoretical NMD boundary in CDS 2469
length of CDS 2676
coding sequence (CDS) position 1108
cDNA position
(for ins/del: last normal base / first normal base)		 1144
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 PNTDVTWKTG
QVERGRAWKP PASLALCSRS CDSMVSCYAS ILCKALWKEK LHTFWHHNRI SFLPSAFRPI
PILACGNDDC RIHIFAQQND QFQKVLSLCG HEDWIRGVEW AAFGRDLFLA SCSQDCLIRI
WKLYIKSTSL ETQDDDNIRL KENTFTIENE SVKIAFAVTL ETVLAGHENW VNAVHWQPVF
YKDGVLQQPV RLLSASMDKT MILWAPDEES GVWLEQVRVG EVGGNTLGFY DCQFNEDGSM
IIAHAFHGAL HLWKQNTVNP 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 LWSKKGPEVM CLQTLNFGNG FALALCLSFL PNTDVTWKTG
QVERGRAWKP PASLALCSRS CDSMVSCYAS ILCKALWKEK LHTFWHHNRI SFLPSAFRPI
PILACGNDDC RIHIFAQQND QFQKVLSLCG HEDWIRGVEW AAFGRDLFLA SCSQDCLIRI
WKLYIKSTSL ETQDDDNIRL KENTFTIENE SVKIAFAVTL ETVLAGHENW VNAVHWQPVF
YKDGVLQQPM RLLSASMDKT MILWAPDEES GVWLEQVRVG EVGGNTLGFY DCQFNEDGSM
IIAHAFHGAL HLWKQNTVNP 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 0.63 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