Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999670217477143 (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 ENST00000351393
Genbank transcript ID NM_001242877
UniProt peptide Q6IA86
alteration type single base exchange
alteration region CDS
DNA changes c.835G>A
cDNA.878G>A
g.16525G>A
AA changes V279M Score: 21 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 279
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      279VFYKDGVLQQPVRLLSASMDKTMI
mutated  all conserved    279VFYKDGVLQQPMRLLSASMDKTM
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  300TYKGGELQQQLSLLSASMDKTM
Drerio  all conserved  ENSDARG00000017199  295SVEQSLKLLSASMDKTM
Dmelanogaster  all conserved  FBgn0033540  310T------PDQELRLLSASIDKTV
Celegans  not conserved  Y111B2A.17  313---NDGRV-----LLT
Xtropicalis  all conserved  ENSXETG00000018920  362SFSRDGSIVQPMSLLSASMDKTM
protein features
start (aa)end (aa)featuredetails 
281329REPEATWD 6.might get lost (downstream of altered splice site)
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 2403 / 2403
position (AA) of stopcodon in wt / mu AA sequence 801 / 801
position of stopcodon in wt / mu cDNA 2446 / 2446
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 44 / 44
chromosome 18
strand 1
last intron/exon boundary 2290
theoretical NMD boundary in CDS 2196
length of CDS 2403
coding sequence (CDS) position 835
cDNA position
(for ins/del: last normal base / first normal base)		 878
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 LWSKKGPEVP ILACGNDDCR IHIFAQQNDQ FQKVLSLCGH
EDWIRGVEWA AFGRDLFLAS CSQDCLIRIW KLYIKSTSLE TQDDDNIRLK ENTFTIENES
VKIAFAVTLE TVLAGHENWV NAVHWQPVFY KDGVLQQPVR LLSASMDKTM ILWAPDEESG
VWLEQVRVGE VGGNTLGFYD CQFNEDGSMI IAHAFHGALH LWKQNTVNPR EWTPEIVISG
HFDGVQDLVW DPEGEFIITV GTDQTTRLFA PWKRKDQSQV TWHEIARPQI HGYDLKCLAM
INRFQFVSGA DEKVLRVFSA PRNFVENFCA ITGQSLNHVL CNQDSDLPEG ATVPALGLSN
KAVFQGDIAS QPSDEEELLT STGFEYQQVA FQPSILTEPP TEDHLLQNTL WPEVQKLYGH
GYEIFCVTCN SSKTLLASAC KAAKKEHAAI ILWNTTSWKQ VQNLVFHSLT VTQMAFSPNE
KFLLAVSRDR TWSLWKKQDT ISPEFEPVFS LFAFTNKITS VHSRIIWSCD WSPDSKYFFT
GSRDKKVVVW GECDSTDDCI EHNIGPCSSV LDVGGAVTAV SVCPVLHPSQ RYVVAVGLEC
GKICLYTWKK TDQVPEINDW THCVETSQSQ SHTLAIRKLC WKNCSGKTEQ KEAEGAEWLH
FASCGEDHTV KIHRVNKCAL *
mutated AA sequence MVAPVLETSH VFCCPNRVRG VLNWSSGPRG LLAFGTSCSV VLYDPLKRVV VTNLNGHTAR
VNCIQWICKQ DGSPSTELVS GGSDNQVIHW EIEDNQLLKA VHLQGHEGPV YAVHAVYQRR
TSDPALCTLI VSAAADSAVR LWSKKGPEVP ILACGNDDCR IHIFAQQNDQ FQKVLSLCGH
EDWIRGVEWA AFGRDLFLAS CSQDCLIRIW KLYIKSTSLE TQDDDNIRLK ENTFTIENES
VKIAFAVTLE TVLAGHENWV NAVHWQPVFY KDGVLQQPMR LLSASMDKTM ILWAPDEESG
VWLEQVRVGE VGGNTLGFYD CQFNEDGSMI IAHAFHGALH LWKQNTVNPR EWTPEIVISG
HFDGVQDLVW DPEGEFIITV GTDQTTRLFA PWKRKDQSQV TWHEIARPQI HGYDLKCLAM
INRFQFVSGA DEKVLRVFSA PRNFVENFCA ITGQSLNHVL CNQDSDLPEG ATVPALGLSN
KAVFQGDIAS QPSDEEELLT STGFEYQQVA FQPSILTEPP TEDHLLQNTL WPEVQKLYGH
GYEIFCVTCN SSKTLLASAC KAAKKEHAAI ILWNTTSWKQ VQNLVFHSLT VTQMAFSPNE
KFLLAVSRDR TWSLWKKQDT ISPEFEPVFS LFAFTNKITS VHSRIIWSCD WSPDSKYFFT
GSRDKKVVVW GECDSTDDCI EHNIGPCSSV LDVGGAVTAV SVCPVLHPSQ RYVVAVGLEC
GKICLYTWKK TDQVPEINDW THCVETSQSQ SHTLAIRKLC WKNCSGKTEQ KEAEGAEWLH
FASCGEDHTV KIHRVNKCAL *
speed 1.00 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