Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 1.57440239121884e-12 (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) chr1:156347131G>AN/A show variant in all transcripts   IGV
HGNC symbol RHBG
Ensembl transcript ID ENST00000368249
Genbank transcript ID NM_020407
UniProt peptide Q9H310
alteration type single base exchange
alteration region CDS
DNA changes c.227G>A
cDNA.265G>A
g.8129G>A
AA changes G76D Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 76
frameshift no
known variant Reference ID: rs2245623
databasehomozygous (A/A)heterozygousallele carriers
1000G2298971126
ExAC93931398123374
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
phyloP / phastCons
PhyloPPhastCons
(flanking)5.4931
5.4931
(flanking)1.0431
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased8129wt: 0.52 / mu: 0.59wt: CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC
mu: CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC		 ttgg|CTTC
distance from splice site 40
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      76QDVHAMVFVGFGFLMVFLQRYGFS
mutated  not conserved    76QDVHAMVFVGFDFLMVFLQRYGF
Ptroglodytes  all identical  ENSPTRG00000001458  76QDVHAMVFVGFGFLMVFLQRYGF
Mmulatta  all identical  ENSMMUG00000017965  113QDVHAMVFVGFGFLMVFLQRYGF
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000001417  73VFVGFGFLMVFLQRYGF
Ggallus  all identical  ENSGALG00000013232  15RDAHLRALLGFGFLLAFLSRYGV
Trubripes  all identical  ENSTRUG00000005400  73HVMIFVGFGFLMTFLQRYGF
Drerio  all identical  ENSDARG00000009018  73IFVGFGFLMTFLQRYGF
Dmelanogaster  all identical  FBgn0028699  71QDIQVMIFIGFGFLMTFLRKYGY
Celegans  all identical  F08F3.3  68GFGFLMTFLKRYGF
Xtropicalis  all identical  ENSXETG00000019898  83HVMIFIGFGFLMTFLKRYGF
protein features
start (aa)end (aa)featuredetails 
6282TRANSMEMHelical; (Potential).lost
8386TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
87107TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
108124TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
125145TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
146149TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
150170TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
171178TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
179201TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
202219TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
220240TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
241251TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
252272TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
273282TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
283303TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
304304TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
305325TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
326346TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
347367TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
368393TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
394414TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
415441TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
416424REGIONInteraction with ANK3.might get lost (downstream of altered splice site)
419419MUTAGENF->A: Loss of interaction with ANK3. Intracellular retention; when associated with A-420 and A-421.might get lost (downstream of altered splice site)
420420MUTAGENL->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-421.might get lost (downstream of altered splice site)
421421MUTAGEND->A: Partial loss of interaction with ANK3. Intracellular retention; when associated with A-419 and A-420.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1326 / 1326
position (AA) of stopcodon in wt / mu AA sequence 442 / 442
position of stopcodon in wt / mu cDNA 1364 / 1364
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 39 / 39
chromosome 1
strand 1
last intron/exon boundary 1348
theoretical NMD boundary in CDS 1259
length of CDS 1326
coding sequence (CDS) position 227
cDNA position
(for ins/del: last normal base / first normal base)		 265
gDNA position
(for ins/del: last normal base / first normal base)		 8129
chromosomal position
(for ins/del: last normal base / first normal base)		 156347131
original gDNA sequence snippet CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC
altered gDNA sequence snippet CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC
original cDNA sequence snippet CATGGTCTTCGTGGGCTTTGGCTTCCTCATGGTCTTCCTGC
altered cDNA sequence snippet CATGGTCTTCGTGGGCTTTGACTTCCTCATGGTCTTCCTGC
wildtype AA sequence MAGSPSRAAG RRLQLPLLCL FLQGATAVLF AVFVRYNHKT DAALWHRSNH SNADNEFYFR
YPSFQDVHAM VFVGFGFLMV FLQRYGFSSV GFTFLLAAFA LQWSTLVQGF LHSFHGGHIH
VGVESMINAD FCAGAVLISF GAVLGKTGPT QLLLMALLEV VLFGINEFVL LHLLGVRDAG
GSMTIHTFGA YFGLVLSRVL YRPQLEKSKH RQGSVYHSDL FAMIGTIFLW IFWPSFNAAL
TALGAGQHRT ALNTYYSLAA STLGTFALSA LVGEDGRLDM VHIQNAALAG GVVVGTSSEM
MLTPFGALAA GFLAGTVSTL GYKFFTPILE SKFKVQDTCG VHNLHGMPGV LGALLGVLVA
GLATHEAYGD GLESVFPLIA EGQRSATSQA MHQLFGLFVT LMFASVGGGL GGLLLKLPFL
DSPPRLPALR GPSSLAGAWR A*
mutated AA sequence MAGSPSRAAG RRLQLPLLCL FLQGATAVLF AVFVRYNHKT DAALWHRSNH SNADNEFYFR
YPSFQDVHAM VFVGFDFLMV FLQRYGFSSV GFTFLLAAFA LQWSTLVQGF LHSFHGGHIH
VGVESMINAD FCAGAVLISF GAVLGKTGPT QLLLMALLEV VLFGINEFVL LHLLGVRDAG
GSMTIHTFGA YFGLVLSRVL YRPQLEKSKH RQGSVYHSDL FAMIGTIFLW IFWPSFNAAL
TALGAGQHRT ALNTYYSLAA STLGTFALSA LVGEDGRLDM VHIQNAALAG GVVVGTSSEM
MLTPFGALAA GFLAGTVSTL GYKFFTPILE SKFKVQDTCG VHNLHGMPGV LGALLGVLVA
GLATHEAYGD GLESVFPLIA EGQRSATSQA MHQLFGLFVT LMFASVGGGL GGLLLKLPFL
DSPPRLPALR GPSSLAGAWR A*
speed 1.26 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