Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999954403507 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:49964977C>GN/A show variant in all transcripts   IGV
HGNC symbol ALDH16A1
Ensembl transcript ID ENST00000293350
Genbank transcript ID NM_153329
UniProt peptide Q8IZ83
alteration type single base exchange
alteration region CDS
DNA changes c.679C>G
cDNA.795C>G
g.8505C>G
AA changes L227V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs1320303
databasehomozygous (G/G)heterozygousallele carriers
1000G69411671861
ExAC21446-1012511321
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5990.861
-2.6140.232
(flanking)2.4630.841
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 81
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227ELGPFPGILNVLSGPASLVPILAS
mutated  all conserved    227ELGPFPGILNVVSGPASLVPILA
Ptroglodytes  all conserved  ENSPTRG00000011296  227ELGPFPGVLNVISGPASLVPILA
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000009193  197ELGSFPGILNVINGPASLGPILA
Mmusculus  all conserved  ENSMUSG00000007833  227ELGSFPGILNVVCGPASLGPVLA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037935  218EAGMPAGVLNVLTGSEASLAAKMA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003403  230EAGLPPGVFNVVTGNGAFGG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2409 / 2409
position (AA) of stopcodon in wt / mu AA sequence 803 / 803
position of stopcodon in wt / mu cDNA 2525 / 2525
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 117 / 117
chromosome 19
strand 1
last intron/exon boundary 2364
theoretical NMD boundary in CDS 2197
length of CDS 2409
coding sequence (CDS) position 679
cDNA position
(for ins/del: last normal base / first normal base)		 795
gDNA position
(for ins/del: last normal base / first normal base)		 8505
chromosomal position
(for ins/del: last normal base / first normal base)		 49964977
original gDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered gDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
original cDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered cDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
wildtype AA sequence MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVLSGP ASLVPILASQ
PGIRKVAFCG APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS
DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC DLVQRFVREA
QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP WPVVVASPFR TAKEALLVAN
GTPRGGSASV WSERLGQALE LGYGLQVGTV WINAHGLRDP SVPTGGCKES GCSWHGGPDG
LYEYLRPSGT PARLSCLSKN LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG
ARSSRPIRDS SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE
RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL RGPVLRLREP
LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP LLALEVCQDM ATVFPAGLAN
VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG SQFVEWASAG NLKPVWASRG CPRAWDQEAE
GAGPELGLRV ARTKALWLPM GD*
mutated AA sequence MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVVSGP ASLVPILASQ
PGIRKVAFCG APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS
DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC DLVQRFVREA
QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP WPVVVASPFR TAKEALLVAN
GTPRGGSASV WSERLGQALE LGYGLQVGTV WINAHGLRDP SVPTGGCKES GCSWHGGPDG
LYEYLRPSGT PARLSCLSKN LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG
ARSSRPIRDS SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE
RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL RGPVLRLREP
LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP LLALEVCQDM ATVFPAGLAN
VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG SQFVEWASAG NLKPVWASRG CPRAWDQEAE
GAGPELGLRV ARTKALWLPM GD*
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