Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.118587462572634 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr17:46629593G>TN/A show variant in all transcripts   IGV
HGNC symbol HOXB3
Ensembl transcript ID ENST00000476342
Genbank transcript ID N/A
UniProt peptide P14651
alteration type single base exchange
alteration region CDS
DNA changes c.244C>A
cDNA.368C>A
g.52682C>A
AA changes P82T Score: 38 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 82
frameshift no
known variant Reference ID: rs2229304
databasehomozygous (T/T)heterozygousallele carriers
1000G97810662044
ExAC27235-217035532
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4ac, Histone, Histone 3 Lysine 4 Acetylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8111
3.2671
(flanking)1.6691
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 205
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      82GSCMRPGLAPEPLSAPPGSPPPSA
mutated  not conserved    82GSCMRPGLAPETLSAPPGSPPPS
Ptroglodytes  all identical  ENSPTRG00000040097  82GSCMRPGLAPEPLSAPPGSPPPS
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000048763  82GSCMRPGLAPEPLPAPPGSPPPS
Ggallus  not conserved  ENSGALG00000013455  140MQGSPVYVGGNYVD
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000029263  78GSCMRPSLPPEHHPPPQVSPPQN
Dmelanogaster  no alignment  FBgn0004054  n/a
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000021967  77GSCMRPNLSSEQSQPLS-------PT
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1296 / 1296
position (AA) of stopcodon in wt / mu AA sequence 432 / 432
position of stopcodon in wt / mu cDNA 1420 / 1420
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 125 / 125
chromosome 17
strand -1
last intron/exon boundary 573
theoretical NMD boundary in CDS 398
length of CDS 1296
coding sequence (CDS) position 244
cDNA position
(for ins/del: last normal base / first normal base)		 368
gDNA position
(for ins/del: last normal base / first normal base)		 52682
chromosomal position
(for ins/del: last normal base / first normal base)		 46629593
original gDNA sequence snippet GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC
altered gDNA sequence snippet GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC
original cDNA sequence snippet GGCCGGGTCTGGCCCCCGAGCCCCTGTCGGCCCCGCCTGGC
altered cDNA sequence snippet GGCCGGGTCTGGCCCCCGAGACCCTGTCGGCCCCGCCTGGC
wildtype AA sequence MQKATYYDNA AAALFGGYSS YPGSNGFGFD VPPQPPFQAA THLEGDYQRS ACSLQSLGNA
APHAKSKELN GSCMRPGLAP EPLSAPPGSP PPSAAPTSAT SNSSNGGGPS KSGPPKCGPG
TNSTLTKQIF PWMKESRQTS KLKNNSPGTA EGCGGGGGGG GGGGSGGSGG GGGGGGGGDK
SPPGSAASKR ARTAYTSAQL VELEKEFHFN RYLCRPRRVE MANLLNLSER QIKIWFQNRR
MKYKKDQKAK GLASSSGGPS PAGSPPQPMQ STAGFMNALH SMTPSYESPS PPAFGKAHQN
AYALPSNYQP PLKGCGAPQK YPPTPAPEYE PHVLQANGGA YGTPTMQGSP VYVGGGGYAD
PLPPPAGPSL YGLNHLSHHP SGNLDYNGAP PMAPSQHHGP CEPHPTYTDL SSHHAPPPQG
RIQEAPKLTH L*
mutated AA sequence MQKATYYDNA AAALFGGYSS YPGSNGFGFD VPPQPPFQAA THLEGDYQRS ACSLQSLGNA
APHAKSKELN GSCMRPGLAP ETLSAPPGSP PPSAAPTSAT SNSSNGGGPS KSGPPKCGPG
TNSTLTKQIF PWMKESRQTS KLKNNSPGTA EGCGGGGGGG GGGGSGGSGG GGGGGGGGDK
SPPGSAASKR ARTAYTSAQL VELEKEFHFN RYLCRPRRVE MANLLNLSER QIKIWFQNRR
MKYKKDQKAK GLASSSGGPS PAGSPPQPMQ STAGFMNALH SMTPSYESPS PPAFGKAHQN
AYALPSNYQP PLKGCGAPQK YPPTPAPEYE PHVLQANGGA YGTPTMQGSP VYVGGGGYAD
PLPPPAGPSL YGLNHLSHHP SGNLDYNGAP PMAPSQHHGP CEPHPTYTDL SSHHAPPPQG
RIQEAPKLTH L*
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