Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999712265995617      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM940077)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr21:27269954C>GN/A show variant in all transcripts   IGV
HGNC symbol APP
Ensembl transcript ID ENST00000357903
Genbank transcript ID NM_201413
UniProt peptide P05067
alteration type single base exchange
alteration region CDS
DNA changes c.1938G>C
cDNA.2105G>C
g.273493G>C
AA changes E646D Score: 45 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 646
frameshift no
known variant Reference ID: rs63750363
databasehomozygous (G/G)heterozygousallele carriers
1000G---
ExAC011

known disease mutation at this position, please check HGMD for details (HGMD ID CM940077)

known disease mutation at this position, please check HGMD for details (HGMD ID CM940077)
known disease mutation at this position, please check HGMD for details (HGMD ID CM940077)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.7391
2.6151
(flanking)2.6841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 32
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      646PGSGLTNIKTEEISEVKMDAEFRH
mutated  all conserved    646PGSGLTNIKTEDISEVKMDAEFR
Ptroglodytes  all identical  ENSPTRG00000013811  665IKTEEISEVKMDAEFR
Mmulatta  all identical  ENSMMUG00000014384  665IKTEEISEVKMDAEFR
Fcatus  all identical  ENSFCAG00000001556  646EISEVKMDAEFR
Mmusculus  all identical  ENSMUSG00000022892  590PGSGLTNIKTEEISEVKMDAEFG
Ggallus  all identical  ENSGALG00000015770  646PGSGLTNVKTEEVSEVKMDAEFR
Trubripes  not conserved  ENSTRUG00000010470  659MEAIPDMRMETEDR
Drerio  all identical  ENSDARG00000055543  662P----------EIPKVR
Dmelanogaster  no alignment  FBgn0000108  n/a
Celegans  not conserved  C42D8.8  591TSSESDEDEDKNIKELRVDIEPI
Xtropicalis  all identical  ENSXETG00000013612  666NIKTEEISEVKMDSEYR
protein features
start (aa)end (aa)featuredetails 
18699TOPO_DOMExtracellular (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2256 / 2256
position (AA) of stopcodon in wt / mu AA sequence 752 / 752
position of stopcodon in wt / mu cDNA 2423 / 2423
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 168 / 168
chromosome 21
strand -1
last intron/exon boundary 2322
theoretical NMD boundary in CDS 2104
length of CDS 2256
coding sequence (CDS) position 1938
cDNA position
(for ins/del: last normal base / first normal base)		 2105
gDNA position
(for ins/del: last normal base / first normal base)		 273493
chromosomal position
(for ins/del: last normal base / first normal base)		 27269954
original gDNA sequence snippet ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA
altered gDNA sequence snippet ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA
original cDNA sequence snippet ACAAATATCAAGACGGAGGAGATCTCTGAAGTGAAGATGGA
altered cDNA sequence snippet ACAAATATCAAGACGGAGGACATCTCTGAAGTGAAGATGGA
wildtype AA sequence MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAIPTTAA STPDAVDKYL
ETPGDENEHA HFQKAKERLE AKHRERMSQV MREWEEAERQ AKNLPKADKK AVIQHFQEKV
ESLEQEAANE RQQLVETHMA RVEAMLNDRR RLALENYITA LQAVPPRPRH VFNMLKKYVR
AEQKDRQHTL KHFEHVRMVD PKKAAQIRSQ VMTHLRVIYE RMNQSLSLLY NVPAVAEEIQ
DEVDELLQKE QNYSDDVLAN MISEPRISYG NDALMPSLTE TKTTVELLPV NGEFSLDDLQ
PWHSFGADSV PANTENEVEP VDARPAADRG LTTRPGSGLT NIKTEEISEV KMDAEFRHDS
GYEVHHQKLV FFAEDVGSNK GAIIGLMVGG VVIATVIVIT LVMLKKKQYT SIHHGVVEVD
AAVTPEERHL SKMQQNGYEN PTYKFFEQMQ N*
mutated AA sequence MLPGLALLLL AAWTARALEV PTDGNAGLLA EPQIAMFCGR LNMHMNVQNG KWDSDPSGTK
TCIDTKEGIL QYCQEVYPEL QITNVVEANQ PVTIQNWCKR GRKQCKTHPH FVIPYRCLVG
EFVSDALLVP DKCKFLHQER MDVCETHLHW HTVAKETCSE KSTNLHDYGM LLPCGIDKFR
GVEFVCCPLA EESDNVDSAD AEEDDSDVWW GGADTDYADG SEDKVVEVAE EEEVAEVEEE
EADDDEDDED GDEVEEEAEE PYEEATERTT SIATTTTTTT ESVEEVVREV CSEQAETGPC
RAMISRWYFD VTEGKCAPFF YGGCGGNRNN FDTEEYCMAV CGSAIPTTAA STPDAVDKYL
ETPGDENEHA HFQKAKERLE AKHRERMSQV MREWEEAERQ AKNLPKADKK AVIQHFQEKV
ESLEQEAANE RQQLVETHMA RVEAMLNDRR RLALENYITA LQAVPPRPRH VFNMLKKYVR
AEQKDRQHTL KHFEHVRMVD PKKAAQIRSQ VMTHLRVIYE RMNQSLSLLY NVPAVAEEIQ
DEVDELLQKE QNYSDDVLAN MISEPRISYG NDALMPSLTE TKTTVELLPV NGEFSLDDLQ
PWHSFGADSV PANTENEVEP VDARPAADRG LTTRPGSGLT NIKTEDISEV KMDAEFRHDS
GYEVHHQKLV FFAEDVGSNK GAIIGLMVGG VVIATVIVIT LVMLKKKQYT SIHHGVVEVD
AAVTPEERHL SKMQQNGYEN PTYKFFEQMQ N*
speed 1.34 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