Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999777550887883 (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) chr3:125865766C>AN/A show variant in all transcripts   IGV
HGNC symbol ALDH1L1
Ensembl transcript ID ENST00000393431
Genbank transcript ID N/A
UniProt peptide O75891
alteration type single base exchange
alteration region CDS
DNA changes c.988G>T
cDNA.1111G>T
g.51072G>T
AA changes V330F Score: 50 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 330
frameshift no
known variant Reference ID: rs2886059
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC18521594217794
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6260.349
0.9530.355
(flanking)-0.2210.347
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased51069wt: 0.2705 / mu: 0.3236 (marginal change - not scored)wt: CATCAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTC
mu: CATCAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTC		 caga|GTGT
Donor increased51076wt: 0.51 / mu: 0.67wt: TGTTTGGCAGCGGAT
mu: TTTTTGGCAGCGGAT		 TTTG|gcag
distance from splice site 4
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      330AELVTAEAVRSVWQRILPKVLEVE
mutated  not conserved    330AELVTAEAVRSFWQRILPKVLEV
Ptroglodytes  no homologue    
Mmulatta  not conserved  ENSMMUG00000012488  332AELVTAEAVRSAWQRILPNVLEV
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000030088  330EELATAEAVRSSWMRILPNVPEV
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000006080  330EEGRFAEQMRAVWQSILSNVSRI
Drerio  all identical  ENSDARG00000077004  332DENRFAEQMRVVWKSILTNVEKI
Dmelanogaster  all conserved  FBgn0032945  341DELVKRSLLAGIWKAILKE--DV
Celegans  all conserved  F36H1.6  340EEKSTVAKLKKIWTGILK--TQV
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
320334HELIXlost
323392DOMAINAcyl carrier.lost
347351HELIXmight get lost (downstream of altered splice site)
354354MOD_RESO-(pantetheine 4'-phosphoryl)serine (By similarity).might get lost (downstream of altered splice site)
356367HELIXmight get lost (downstream of altered splice site)
375380HELIXmight get lost (downstream of altered splice site)
384397HELIXmight get lost (downstream of altered splice site)
417902REGIONAldehyde dehydrogenase.might get lost (downstream of altered splice site)
470470CONFLICTD -> G (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
571573NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
597600NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
613613MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
630635NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
650651NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
673673ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
677677CONFLICTK -> E (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
680680CONFLICTL -> F (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
702702CONFLICTN -> S (in Ref. 1; AAC35000).might get lost (downstream of altered splice site)
707707ACT_SITEProton donor (By similarity).might get lost (downstream of altered splice site)
757757BINDINGNADP (By similarity).might get lost (downstream of altered splice site)
804806NP_BINDNADP (By similarity).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1518 / 1518
position (AA) of stopcodon in wt / mu AA sequence 506 / 506
position of stopcodon in wt / mu cDNA 1641 / 1641
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 124 / 124
chromosome 3
strand -1
last intron/exon boundary 2526
theoretical NMD boundary in CDS 2352
length of CDS 1518
coding sequence (CDS) position 988
cDNA position
(for ins/del: last normal base / first normal base)		 1111
gDNA position
(for ins/del: last normal base / first normal base)		 51072
chromosomal position
(for ins/del: last normal base / first normal base)		 125865766
original gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTGTTTGGCAGCGGATCCTCCCC
altered gDNA sequence snippet CAGGTCTTGCTTTGCAGAGTTTTTGGCAGCGGATCCTCCCC
original cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTGTTTGGCAGCGGATCCTCCCC
altered cDNA sequence snippet CTGCGGAGGCTGTGCGGAGTTTTTGGCAGCGGATCCTCCCC
wildtype AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSV WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RAPPSPSTRP DPTAT*
mutated AA sequence MKIAVIGQSL FGQEVYCHLR KEGHEVVGVF TVPDKDGKAD PLGLEAEKDG VPVFKYSRWR
AKGQALPDVV AKYQALGAEL NVLPFCSQFI PMEIISAPRH GSIIYHPSLL PRHRGASAIN
WTLIHGDKKG GFSIFWADDG LDTGDLLLQK ECEVLPDDTV STLYNRFLFP EGIKGMVQAV
RLIAEGKAPR LPQPEEGATY EGIQKKETAK INWDQPAEAI HNWIRGNDKV PGAWTEACEQ
KLTFFNSTLN TSGLVPEGDA LPIPGAHRPG VVTKAGLILF GNDDKMLLVK NIQLEDGKMI
LASNFFKGAA SSVLELTEAE LVTAEAVRSF WQRILPKVLE VEDSTDFFKS GAASVDVVRL
VEEVKELCDG LELENEDVYM ASTFGDFIQL LVRKLRGDDE EGECSIDYVE MAVNKRTVRM
PHQLFIGGEF VDAEGAKTSE TINPTDGSVI CQVSLAQVTD VDKAVAAAKD AFENGRWGKI
SARDRGRLMY RAPPSPSTRP DPTAT*
speed 1.08 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