Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999713565496675 (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 CM973382)
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr16:28617514C>TN/A show variant in all transcripts   IGV
HGNC symbol SULT1A1
Ensembl transcript ID ENST00000314752
Genbank transcript ID N/A
UniProt peptide P50225
alteration type single base exchange
alteration region CDS
DNA changes c.638G>A
cDNA.719G>A
g.17433G>A
AA changes R213H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 213
frameshift no
known variant Reference ID: rs9282861
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC36901723420924

known disease mutation at this position, please check HGMD for details (HGMD ID CM973382)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1280.938
0.9450.934
(flanking)0.1840.916
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 44
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      213REIQKILEFVGRSLPEETVDFVVQ
mutated  not conserved    213REIQKILEFVGHSLPEETVDFVV
Ptroglodytes  all identical  ENSPTRG00000007991  213REIQKILEFVGRSLPEETVDFMV
Mmulatta  no alignment  ENSMMUG00000022334  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000012821  213REIRKVVKFMGKDLPEETVEKIA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 888 / 888
position (AA) of stopcodon in wt / mu AA sequence 296 / 296
position of stopcodon in wt / mu cDNA 969 / 969
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 82 / 82
chromosome 16
strand -1
last intron/exon boundary 857
theoretical NMD boundary in CDS 725
length of CDS 888
coding sequence (CDS) position 638
cDNA position
(for ins/del: last normal base / first normal base)		 719
gDNA position
(for ins/del: last normal base / first normal base)		 17433
chromosomal position
(for ins/del: last normal base / first normal base)		 28617514
original gDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered gDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
original cDNA sequence snippet GATCCTGGAGTTTGTGGGGCGCTCCCTGCCAGAGGAGACCG
altered cDNA sequence snippet GATCCTGGAGTTTGTGGGGCACTCCCTGCCAGAGGAGACCG
wildtype AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGRSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
mutated AA sequence MELIQDTSRP PLEYVKGVPL IKYFAEALGP LQSFQARPDD LLISTYPKSG TTWVSQILDM
IYQGGDLEKC HRAPIFMRVP FLEFKAPGIP SGMETLKDTP APRLLKTHLP LALLPQTLLD
QKVKVVYVAR NAKDVAVSYY HFYHMAKVHP EPGTWDSFLE KFMVGEVSYG SWYQHVQEWW
ELSRTHPVLY LFYEDMKENP KREIQKILEF VGHSLPEETV DFVVQHTSFK EMKKNPMTNY
TTVPQEFMDH SISPFMRKGM AGDWKTTFTV AQNERFDADY AEKMAGCSLS FRSEL*
speed 0.79 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