Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00520124015753654 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1314879)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr1:114438951A>GN/A show variant in all transcripts   IGV
HGNC symbol AP4B1
Ensembl transcript ID ENST00000369567
Genbank transcript ID N/A
UniProt peptide Q9Y6B7
alteration type single base exchange
alteration region CDS
DNA changes c.935T>C
cDNA.1046T>C
g.8873T>C
AA changes L312S Score: 145 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 312
frameshift no
known variant Reference ID: rs1217401
databasehomozygous (G/G)heterozygousallele carriers
1000G5348201354
ExAC75161773525251

known disease mutation at this position, please check HGMD for details (HGMD ID CM1314879)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4560.991
3.7670.99
(flanking)0.1060.028
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained88730.39mu: TGCTTCGCTGCGCCT CTTC|gctg
distance from splice site 72
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      312FPAVKMELLTALLRLFLSRPAECQ
mutated  not conserved    312FPAVKMELLTASLRLFLSRPAEC
Ptroglodytes  all identical  ENSPTRG00000001127  480FPAVKMELLTALLRLFLSRPAEC
Mmulatta  all identical  ENSMMUG00000019528  480FPAVKMELLTALLRLFLSRPAEC
Fcatus  all identical  ENSFCAG00000009240  480FPAVTMELLTALLRLFLSRPAEC
Mmusculus  all identical  ENSMUSG00000032952  480FPAVKMELLTALMRLVLSRPAEC
Ggallus  all identical  ENSGALG00000021654  480FPAVKMELLTALVRLFLSRPAEC
Trubripes  not conserved  ENSTRUG00000005006  480SVGVKMELLTSACRLFLCRPAEM
Drerio  not conserved  ENSDARG00000013726  480SAPLKMEILTAALKMFLRRPAET
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000013187  381SPTVKIELLTAVVRLFLSRPAEC
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1716 / 1716
position (AA) of stopcodon in wt / mu AA sequence 572 / 572
position of stopcodon in wt / mu cDNA 1827 / 1827
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 112 / 112
chromosome 1
strand -1
last intron/exon boundary 1400
theoretical NMD boundary in CDS 1238
length of CDS 1716
coding sequence (CDS) position 935
cDNA position
(for ins/del: last normal base / first normal base)		 1046
gDNA position
(for ins/del: last normal base / first normal base)		 8873
chromosomal position
(for ins/del: last normal base / first normal base)		 114438951
original gDNA sequence snippet GATGGAGCTGCTCACTGCTTTGCTGCGCCTTTTCCTCTCCC
altered gDNA sequence snippet GATGGAGCTGCTCACTGCTTCGCTGCGCCTTTTCCTCTCCC
original cDNA sequence snippet GATGGAGCTGCTCACTGCTTTGCTGCGCCTTTTCCTCTCCC
altered cDNA sequence snippet GATGGAGCTGCTCACTGCTTCGCTGCGCCTTTTCCTCTCCC
wildtype AA sequence MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMS KLDQWGQAEV LNFLLRYQPR
SEEELFDILN LLDSFLKSSS PGVVMGATKL FLILAKMFPH VQTDVLVRVK GPLLAACSSE
SRELCFVALC HVRQILHSLP GHFSSHYKKF FCSYSEPHYI KLQKVEVLCE LVNDENVQQV
LEELRGYCTD VSADFAQAAI FAIGGIARTY TDQCVQILTE LLGLRQEHIT TVVVQTFRDL
VWLCPQCTEA VCQALPGCEE NIQDSEGKQA LIWLLGVHGE RIPNAPYVLE DFVENVKSET
FPAVKMELLT ALLRLFLSRP AECQDMLGRL LYYCIEEEKD MAVRDRGLFY YRLLLVGIDE
VKRILCSPKS DPTLGLLEDP AERPVNSWAS DFNTLVPVYG KAHWATISKC QGAERCDPEL
PKTSSFAASG PLIPEENKER VQELPDSGAL MLVPNRQLTA DYFEKTWLSL KVAHQQVLPW
RGEFHPDTLQ MALQVVNIQT IAMSRAGSRP WKAYLSAQDD TGCLFLTELL LEPGNSEMQI
SVKQNEARTE TLNSFISVLE TVIGTIEEIK S*
mutated AA sequence MPYLGSEDVV KELKKALCNP HIQADRLRYR NVIQRVIRMS KLDQWGQAEV LNFLLRYQPR
SEEELFDILN LLDSFLKSSS PGVVMGATKL FLILAKMFPH VQTDVLVRVK GPLLAACSSE
SRELCFVALC HVRQILHSLP GHFSSHYKKF FCSYSEPHYI KLQKVEVLCE LVNDENVQQV
LEELRGYCTD VSADFAQAAI FAIGGIARTY TDQCVQILTE LLGLRQEHIT TVVVQTFRDL
VWLCPQCTEA VCQALPGCEE NIQDSEGKQA LIWLLGVHGE RIPNAPYVLE DFVENVKSET
FPAVKMELLT ASLRLFLSRP AECQDMLGRL LYYCIEEEKD MAVRDRGLFY YRLLLVGIDE
VKRILCSPKS DPTLGLLEDP AERPVNSWAS DFNTLVPVYG KAHWATISKC QGAERCDPEL
PKTSSFAASG PLIPEENKER VQELPDSGAL MLVPNRQLTA DYFEKTWLSL KVAHQQVLPW
RGEFHPDTLQ MALQVVNIQT IAMSRAGSRP WKAYLSAQDD TGCLFLTELL LEPGNSEMQI
SVKQNEARTE TLNSFISVLE TVIGTIEEIK S*
speed 1.09 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