Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999927354619 (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 CM005531)
  • protein features (might be) affected
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:27135314C>TN/A show variant in all transcripts   IGV
HGNC symbol HOXA1
Ensembl transcript ID ENST00000343060
Genbank transcript ID NM_005522
UniProt peptide P49639
alteration type single base exchange
alteration region CDS
DNA changes c.218G>A
cDNA.280G>A
g.302G>A
AA changes R73H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 73
frameshift no
known variant Reference ID: rs10951154
databasehomozygous (T/T)heterozygousallele carriers
1000G16565982254
ExAC---

known disease mutation at this position, please check HGMD for details (HGMD ID CM005531)
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
Gene Associated, Regulatory Feature, Gene associated regulatory feature
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.310.932
0.2920.952
(flanking)1.0130.978
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 280
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      73GSPHHHHHHHHRHPQPATYQTSGN
mutated  not conserved    73GSPHHHHHHHHHHPQPATYQTSG
Ptroglodytes  not conserved  ENSPTRG00000019010  73GSPHHHHHHHHHHPQPATYQTSG
Mmulatta  not conserved  ENSMMUG00000012807  73GSPHHHHHHHHHHPPPATYQTSG
Fcatus  not conserved  ENSFCAG00000007937  73SPPHHHHHHHHHHPQPATYQPPG
Mmusculus  not conserved  ENSMUSG00000029844  73SSPHHHHHHHHHHHPQTATYQTSG
Ggallus  no alignment  ENSGALG00000011053  n/a
Trubripes  not conserved  ENSTRUG00000015937  67Q------------SYQAAVS
Drerio  not conserved  ENSDARG00000057721  73-------DVINSQPQQAGSYQSPG
Dmelanogaster  no alignment  FBgn0002522  n/a
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000000715  73SSHPHHHHH-----QAGAFQHHN
protein features
start (aa)end (aa)featuredetails 
6574COMPBIASPoly-His.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1008 / 1008
position (AA) of stopcodon in wt / mu AA sequence 336 / 336
position of stopcodon in wt / mu cDNA 1070 / 1070
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 63 / 63
chromosome 7
strand -1
last intron/exon boundary 715
theoretical NMD boundary in CDS 602
length of CDS 1008
coding sequence (CDS) position 218
cDNA position
(for ins/del: last normal base / first normal base)		 280
gDNA position
(for ins/del: last normal base / first normal base)		 302
chromosomal position
(for ins/del: last normal base / first normal base)		 27135314
original gDNA sequence snippet CCACCACCACCACCACCATCGCCACCCCCAGCCGGCTACCT
altered gDNA sequence snippet CCACCACCACCACCACCATCACCACCCCCAGCCGGCTACCT
original cDNA sequence snippet CCACCACCACCACCACCATCGCCACCCCCAGCCGGCTACCT
altered cDNA sequence snippet CCACCACCACCACCACCATCACCACCCCCAGCCGGCTACCT
wildtype AA sequence MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ
IGSPHHHHHH HHRHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS
GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL
SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ
LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH*
mutated AA sequence MDNARMNSFL EYPILSSGDS GTCSARAYPS DHRITTFQSC AVSANSCGGD DRFLVGRGVQ
IGSPHHHHHH HHHHPQPATY QTSGNLGVSY SHSSCGPSYG SQNFSAPYSP YALNQEADVS
GGYPQCAPAV YSGNLSSPMV QHHHHHQGYA GGAVGSPQYI HHSYGQEHQS LALATYNNSL
SPLHASHQEA CRSPASETSS PAQTFDWMKV KRNPPKTGKV GEYGYLGQPN AVRTNFTTKQ
LTELEKEFHF NKYLTRARRV EIAASLQLNE TQVKIWFQNR RMKQKKREKE GLLPISPATP
PGNDEKAEES SEKSSSSPCV PSPGSSTSDT LTTSH*
speed 0.76 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