Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999940692945984 (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) chr11:20404613T>GN/A show variant in all transcripts   IGV
HGNC symbol HTATIP2
Ensembl transcript ID ENST00000421577
Genbank transcript ID N/A
UniProt peptide Q9BUP3
alteration type single base exchange
alteration region CDS
DNA changes c.591T>G
cDNA.619T>G
g.19383T>G
AA changes S197R Score: 110 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 197
frameshift no
known variant Reference ID: rs3824886
databasehomozygous (G/G)heterozygousallele carriers
1000G13508662216
ExAC---
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0170.648
-1.1150.001
(flanking)0.460
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased19376wt: 0.63 / mu: 0.72wt: TGGCTCCTTACCAGACTCTTGGGCCAGTGGGCATTCTGTGC
mu: TGGCTCCTTACCAGACTCTTGGGCCAGGGGGCATTCTGTGC		 cttg|GGCC
Donor gained193770.71mu: TCTTGGGCCAGGGGG TTGG|gcca
distance from splice site 88
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      197KFFGSLPDSWASGHSVPVVTVVRA
mutated  not conserved    197KFFGSLPDSWARGHSVPVVTVVR
Ptroglodytes  all identical  ENSPTRG00000003438  231KFFGSLPDSWASGHSVPVVTVVR
Mmulatta  all identical  ENSMMUG00000010718  197KFFGSLPESWASGQSVPLVTVVR
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000039745  197KFFGSLPDSWASGYAVPVVTVVR
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000028386  193FFGAFSTVFPTAMSIPITSVVR
Dmelanogaster  no homologue    
Celegans  all conserved  C33F10.14  178IVTAPL-GLFSNRF
Xtropicalis  all conserved  ENSXETG00000014192  195MLSPISYMFPTAYSVPMATLVR
protein features
start (aa)end (aa)featuredetails 
195198HELIXlost
200202STRANDmight get lost (downstream of altered splice site)
203214HELIXmight get lost (downstream of altered splice site)
220226STRANDmight get lost (downstream of altered splice site)
227233HELIXmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 729 / 729
position (AA) of stopcodon in wt / mu AA sequence 243 / 243
position of stopcodon in wt / mu cDNA 757 / 757
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 29 / 29
chromosome 11
strand 1
last intron/exon boundary 532
theoretical NMD boundary in CDS 453
length of CDS 729
coding sequence (CDS) position 591
cDNA position
(for ins/del: last normal base / first normal base)		 619
gDNA position
(for ins/del: last normal base / first normal base)		 19383
chromosomal position
(for ins/del: last normal base / first normal base)		 20404613
original gDNA sequence snippet TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT
altered gDNA sequence snippet TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT
original cDNA sequence snippet TTACCAGACTCTTGGGCCAGTGGGCATTCTGTGCCTGTGGT
altered cDNA sequence snippet TTACCAGACTCTTGGGCCAGGGGGCATTCTGTGCCTGTGGT
wildtype AA sequence MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AEGFVRVDRD YVLKSAELAK
AGGCKHFNLL SSKGADKSSN FLYLQVKGEV EAKVEELKFD RYSVFRPGVL LCDRQESRPG
EWLVRKFFGS LPDSWASGHS VPVVTVVRAM LNNVVRPRDK QMELLENKAI HDLGKAHGSL
KP*
mutated AA sequence MAETEALSKL REDFRMQNKS VFILGASGET GRVLLKEILE QGLFSKVTLI GRRKLTFDEE
AYKNVNQEVV DFEKLDDYAS AFQGHDVGFC CLGTTRGKAG AEGFVRVDRD YVLKSAELAK
AGGCKHFNLL SSKGADKSSN FLYLQVKGEV EAKVEELKFD RYSVFRPGVL LCDRQESRPG
EWLVRKFFGS LPDSWARGHS VPVVTVVRAM LNNVVRPRDK QMELLENKAI HDLGKAHGSL
KP*
speed 0.95 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