Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999939 (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 CM057770)
  • known disease mutation at this position (HGMD CP995124)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr2:234602191A>GN/A show variant in all transcripts   IGV
HGNC symbol UGT1A6
Ensembl transcript ID ENST00000305139
Genbank transcript ID NM_001072
UniProt peptide P19224
alteration type single base exchange
alteration region CDS
DNA changes c.541A>G
cDNA.680A>G
g.1939A>G
AA changes T181A Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 181
frameshift no
known variant Reference ID: rs2070959
databasehomozygous (G/G)heterozygousallele carriers
1000G2049821186
ExAC64381989126329

known disease mutation at this position, please check HGMD for details (HGMD ID CP995124)

known disease mutation at this position, please check HGMD for details (HGMD ID CP995124)
known disease mutation at this position, please check HGMD for details (HGMD ID CM057770)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.4510
-1.5960
(flanking)-1.0740
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 increased1933wt: 0.5537 / mu: 0.5705 (marginal change - not scored)wt: GGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGC
mu: GGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGC		 ctgg|AGCA
Acc marginally increased1931wt: 0.9079 / mu: 0.9324 (marginal change - not scored)wt: CAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAA
mu: CAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAA		 ccct|GGAG
Acc marginally increased1932wt: 0.7669 / mu: 0.8018 (marginal change - not scored)wt: AGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAGAAG
mu: AGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAG		 cctg|GAGC
Acc marginally increased1929wt: 0.4062 / mu: 0.4329 (marginal change - not scored)wt: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATACATTCAGCAG
mu: TTCAGGGGTTTTCCGTGTTCCCTGGAGCATGCATTCAGCAG		 ttcc|CTGG
distance from splice site 321
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      181LFRGFPCSLEHTFSRSPDPVSYIP
mutated  not conserved    181AFSRSPDPVSYI
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000090145  181MLGQSPSPVSYV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1599 / 1599
position (AA) of stopcodon in wt / mu AA sequence 533 / 533
position of stopcodon in wt / mu cDNA 1738 / 1738
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 140 / 140
chromosome 2
strand 1
last intron/exon boundary 1441
theoretical NMD boundary in CDS 1251
length of CDS 1599
coding sequence (CDS) position 541
cDNA position
(for ins/del: last normal base / first normal base)		 680
gDNA position
(for ins/del: last normal base / first normal base)		 1939
chromosomal position
(for ins/del: last normal base / first normal base)		 234602191
original gDNA sequence snippet TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC
altered gDNA sequence snippet TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC
original cDNA sequence snippet TTCCGTGTTCCCTGGAGCATACATTCAGCAGAAGCCCAGAC
altered cDNA sequence snippet TTCCGTGTTCCCTGGAGCATGCATTCAGCAGAAGCCCAGAC
wildtype AA sequence MACLLRSFQR ISAGVFFLAL WGMVVGDKLL VVPQDGSHWL SMKDIVEVLS DRGHEIVVVV
PEVNLLLKES KYYTRKIYPV PYDQEELKNR YQSFGNNHFA ERSFLTAPQT EYRNNMIVIG
LYFINCQSLL QDRDTLNFFK ESKFDALFTD PALPCGVILA EYLGLPSVYL FRGFPCSLEH
TFSRSPDPVS YIPRCYTKFS DHMTFSQRVA NFLVNLLEPY LFYCLFSKYE ELASAVLKRD
VDIITLYQKV SVWLLRYDFV LEYPRPVMPN MVFIGGINCK KRKDLSQEFE AYINASGEHG
IVVFSLGSMV SEIPEKKAMA IADALGKIPQ TVLWRYTGTR PSNLANNTIL VKWLPQNDLL
GHPMTRAFIT HAGSHGVYES ICNGVPMVMM PLFGDQMDNA KRMETKGAGV TLNVLEMTSE
DLENALKAVI NDKSYKENIM RLSSLHKDRP VEPLDLAVFW VEFVMRHKGA PHLRPAAHDL
TWYQYHSLDV IGFLLAVVLT VAFITFKCCA YGYRKCLGKK GRVKKAHKSK TH*
mutated AA sequence MACLLRSFQR ISAGVFFLAL WGMVVGDKLL VVPQDGSHWL SMKDIVEVLS DRGHEIVVVV
PEVNLLLKES KYYTRKIYPV PYDQEELKNR YQSFGNNHFA ERSFLTAPQT EYRNNMIVIG
LYFINCQSLL QDRDTLNFFK ESKFDALFTD PALPCGVILA EYLGLPSVYL FRGFPCSLEH
AFSRSPDPVS YIPRCYTKFS DHMTFSQRVA NFLVNLLEPY LFYCLFSKYE ELASAVLKRD
VDIITLYQKV SVWLLRYDFV LEYPRPVMPN MVFIGGINCK KRKDLSQEFE AYINASGEHG
IVVFSLGSMV SEIPEKKAMA IADALGKIPQ TVLWRYTGTR PSNLANNTIL VKWLPQNDLL
GHPMTRAFIT HAGSHGVYES ICNGVPMVMM PLFGDQMDNA KRMETKGAGV TLNVLEMTSE
DLENALKAVI NDKSYKENIM RLSSLHKDRP VEPLDLAVFW VEFVMRHKGA PHLRPAAHDL
TWYQYHSLDV IGFLLAVVLT VAFITFKCCA YGYRKCLGKK GRVKKAHKSK TH*
speed 1.11 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