Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.992404666400992 (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 CM140252)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:88407888A>GN/A show variant in all transcripts   IGV
HGNC symbol GALC
Ensembl transcript ID ENST00000261304
Genbank transcript ID NM_000153
UniProt peptide P54803
alteration type single base exchange
alteration region CDS
DNA changes c.1685T>C
cDNA.1792T>C
g.52122T>C
AA changes I562T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 562
frameshift no
known variant Reference ID: rs398607
databasehomozygous (G/G)heterozygousallele carriers
1000G55311351688
ExAC12358805120409

known disease mutation at this position, please check HGMD for details (HGMD ID CM140252)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8670
5.1250.441
(flanking)0.2830.334
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 increased52112wt: 0.2919 / mu: 0.3121 (marginal change - not scored)wt: CCGTTTTATTTTGCAGGACCAATCTGACTATAAAGTGTGAT
mu: CCGTTTTATTTTGCAGGACCAATCTGACTACAAAGTGTGAT		 acca|ATCT
Donor increased52113wt: 0.24 / mu: 0.26wt: GACCAATCTGACTAT
mu: GACCAATCTGACTAC		 CCAA|tctg
distance from splice site 15
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      562IIGDYNWTNLTIKCDVYIETPDTG
mutated  not conserved    562IIGDYNWTNLTTKCDVYIETPDT
Ptroglodytes  all identical  ENSPTRG00000006602  539IIGDYNWTNLTIKCDVYIETPDT
Mmulatta  all identical  ENSMMUG00000017261  562IIGDYNWTNLTIKCDVYIETPDT
Fcatus  no alignment  ENSFCAG00000003064  n/a
Mmusculus  all conserved  ENSMUSG00000021003  561VIGDHHWTNMTVQCDVYIETPRS
Ggallus  all conserved  ENSGALG00000010593  523IIGNFQWVNLTVTCDIYIEKPID
Trubripes  all conserved  ENSTRUG00000008387  547VIGDYQWQNLTVTCDV
Drerio  all conserved  ENSDARG00000016474  542VIGDYAWHDVMVSCDVYMEAVQT
Dmelanogaster  no homologue    
Celegans  all conserved  C29E4.10  423AVMAYRKKNSILNAEVNIPKHST
Xtropicalis  all conserved  ENSXETG00000016608  553VIGNYQWSNVTVTSDIYIETPDT
protein features
start (aa)end (aa)featuredetails 
559559CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
602602CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2058 / 2058
position (AA) of stopcodon in wt / mu AA sequence 686 / 686
position of stopcodon in wt / mu cDNA 2165 / 2165
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 108 / 108
chromosome 14
strand -1
last intron/exon boundary 2019
theoretical NMD boundary in CDS 1861
length of CDS 2058
coding sequence (CDS) position 1685
cDNA position
(for ins/del: last normal base / first normal base)		 1792
gDNA position
(for ins/del: last normal base / first normal base)		 52122
chromosomal position
(for ins/del: last normal base / first normal base)		 88407888
original gDNA sequence snippet TTGCAGGACCAATCTGACTATAAAGTGTGATGTATACATAG
altered gDNA sequence snippet TTGCAGGACCAATCTGACTACAAAGTGTGATGTATACATAG
original cDNA sequence snippet CAACTGGACCAATCTGACTATAAAGTGTGATGTATACATAG
altered cDNA sequence snippet CAACTGGACCAATCTGACTACAAAGTGTGATGTATACATAG
wildtype AA sequence MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA
VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA
LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV
GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD
AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT
VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP YFNVSQQFAT FVLKGSFSEI
PELQVWYTKL GKTSERFLFK QLDSLWLLDS DGSFTLSLHE DELFTLTTLT TGRKGSYPLP
PKSQPFPSTY KDDFNVDYPF FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT
WAADASNTIS IIGDYNWTNL TIKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL WTDIPVNFPK
NGWAAIGTHS FEFAQFDNFL VEATR*
mutated AA sequence MAEWLLSASW QRRAKAMTAA AGSAGRAAVP LLLCALLAPG GAYVLDDSDG LGREFDGIGA
VSGGGATSRL LVNYPEPYRS QILDYLFKPN FGASLHILKV EIGGDGQTTD GTEPSHMHYA
LDENYFRGYE WWLMKEAKKR NPNITLIGLP WSFPGWLGKG FDWPYVNLQL TAYYVVTWIV
GAKRYHDLDI DYIGIWNERS YNANYIKILR KMLNYQGLQR VKIIASDNLW ESISASMLLD
AELFKVVDVI GAHYPGTHSA KDAKLTGKKL WSSEDFSTLN SDMGAGCWGR ILNQNYINGY
MTSTIAWNLV ASYYEQLPYG RCGLMTAQEP WSGHYVVESP VWVSAHTTQF TQPGWYYLKT
VGHLEKGGSY VALTDGLGNL TIIIETMSHK HSKCIRPFLP YFNVSQQFAT FVLKGSFSEI
PELQVWYTKL GKTSERFLFK QLDSLWLLDS DGSFTLSLHE DELFTLTTLT TGRKGSYPLP
PKSQPFPSTY KDDFNVDYPF FSEAPNFADQ TGVFEYFTNI EDPGEHHFTL RQVLNQRPIT
WAADASNTIS IIGDYNWTNL TTKCDVYIET PDTGGVFIAG RVNKGGILIR SARGIFFWIF
ANGSYRVTGD LAGWIIYALG RVEVTAKKWY TLTLTIKGHF TSGMLNDKSL WTDIPVNFPK
NGWAAIGTHS FEFAQFDNFL VEATR*
speed 1.36 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