Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999458 (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) chr19:4200156G>AN/A show variant in all transcripts   IGV
HGNC symbol ANKRD24
Ensembl transcript ID ENST00000318934
Genbank transcript ID N/A
UniProt peptide Q8TF21
alteration type single base exchange
alteration region CDS
DNA changes c.331G>A
cDNA.487G>A
g.13890G>A
AA changes A111T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 111
frameshift no
known variant Reference ID: rs2052191
databasehomozygous (A/A)heterozygousallele carriers
1000G45411271581
ExAC76491746925118
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1330.186
-0.0110.074
(flanking)0.5250.065
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained138900.73mu: TGAGCACGGACGGGG AGCA|cgga
distance from splice site 13
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      111VMIAHGSNVMSADGAGYNALHLAA
mutated  not conserved    111VMIAHGSNVMSTDGAGYNALH
Ptroglodytes  not conserved  ENSPTRG00000010297  111VMIAHGSNVMST-GAGYNALH
Mmulatta  no alignment  ENSMMUG00000028928  n/a
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000054708  82VMLAQGADVMSTDGAGYNALH
Ggallus  not conserved  ENSGALG00000001235  93AMLAHGVDAMTKDSSGYTALHLA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000062103  82VILSHGVDIGVTDGTGFNALH
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
81110REPEATANK 1.might get lost (downstream of altered splice site)
114143REPEATANK 2.might get lost (downstream of altered splice site)
147176REPEATANK 3.might get lost (downstream of altered splice site)
180209REPEATANK 4.might get lost (downstream of altered splice site)
213242REPEATANK 5.might get lost (downstream of altered splice site)
308311COMPBIASPoly-Pro.might get lost (downstream of altered splice site)
320517COILEDPotential.might get lost (downstream of altered splice site)
7141110COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3441 / 3441
position (AA) of stopcodon in wt / mu AA sequence 1147 / 1147
position of stopcodon in wt / mu cDNA 3597 / 3597
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 157 / 157
chromosome 19
strand 1
last intron/exon boundary 3520
theoretical NMD boundary in CDS 3313
length of CDS 3441
coding sequence (CDS) position 331
cDNA position
(for ins/del: last normal base / first normal base)		 487
gDNA position
(for ins/del: last normal base / first normal base)		 13890
chromosomal position
(for ins/del: last normal base / first normal base)		 4200156
original gDNA sequence snippet ATGGCAGCAATGTCATGAGCGCGGACGGGGCAGGTACTGCC
altered gDNA sequence snippet ATGGCAGCAATGTCATGAGCACGGACGGGGCAGGTACTGCC
original cDNA sequence snippet ATGGCAGCAATGTCATGAGCGCGGACGGGGCAGGTTACAAT
altered cDNA sequence snippet ATGGCAGCAATGTCATGAGCACGGACGGGGCAGGTTACAAT
wildtype AA sequence MKTLRARFKK TELRLSPTDL GSCPPCGPCP IPKPAARGRR QSQDWGKSDE RLLQAVENND
APRVAALIAR KGLVPTKLDP EGKSAFHLAA MRGAASCLEV MIAHGSNVMS ADGAGYNALH
LAAKYGHPQC LKQLLQASCV VDVVDSSGWT ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS
GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ DLQGRTALML ACEGASPETV EVLLQGGAQP
GITDALGQDA AHYGALAGDK LILHLLQEAA QRPSPPSALT EDDSGEASSQ NSMSSHGKQG
APKKRKAPPP PASIPMPDDR DAYEEIVRLR QERGRLLQKI RGLEQHKERR QQESPEASSL
HILERQVQEL QQLLVERQEE KESLGREVES LQSRLSLLEN ERENTSYDVT TLQDEEGELP
DLPGAEVLLS RQLSPSAQEH LASLQEQVAV LTRQNQELME KVQILENFEK DETQMEVEAL
AEVIPLALYD SLRAEFDQLR RQHAEALQAL RQQETREVPR EEGAACGESE VAGATATKNG
PTHMELNGSV APETKVNGAE TIDEEAAGDE TMEARTMEAE ATGAEATGAE ATGAKVTETK
PTGAEVREME TTEEEANMET KPTGAQATDT ETTGVEAMGV EATKTKAEEA EMQAYGVGAG
QAEPPVTGTT NMEATGSRAT GMESTGVSAT GVENPGVEAT VPGISAGPIL HPGAAEASEK
LQVELETRIR GLEEALRQRE REAAAELEAA LGKCEAAEAE AGRLRERVRE AEGSGASGGG
GGDTTQLRAA LEQAREDLRD RDSRLRELEA ASACLDEARA SRLLAEEEAR GLRAELAQRE
EARLEQSREL EVLREQLATA RATGEQQRTA AAELGRARDA AEARVAELPA ACEEARQGLA
ELREASEALR QSVVPASEHR RLQEEALELR GRAASLEQEV VATGKEAARL RAELERERVC
SVALSEHERI VGTLQANVAQ LEGQLEELGR RHEKTSAEVF QVQREALFMK SERHAAEAQL
ATAEQQLRGL RTEAERARQA QSRAQEALDK AKEKDKKITE LSKEVFNLKE ALKEQPAALA
TPEVEALRDQ VKDLQQQLQE AARDHSSVVA LYRSHLLYAI QGQMDEDVQR ILSQILQMQR
LQAQGR*
mutated AA sequence MKTLRARFKK TELRLSPTDL GSCPPCGPCP IPKPAARGRR QSQDWGKSDE RLLQAVENND
APRVAALIAR KGLVPTKLDP EGKSAFHLAA MRGAASCLEV MIAHGSNVMS TDGAGYNALH
LAAKYGHPQC LKQLLQASCV VDVVDSSGWT ALHHAAAGGC LSCSEVLCSF KAHLNPQDRS
GATPLIIAAQ MCHTDLCRLL LQQGAAANDQ DLQGRTALML ACEGASPETV EVLLQGGAQP
GITDALGQDA AHYGALAGDK LILHLLQEAA QRPSPPSALT EDDSGEASSQ NSMSSHGKQG
APKKRKAPPP PASIPMPDDR DAYEEIVRLR QERGRLLQKI RGLEQHKERR QQESPEASSL
HILERQVQEL QQLLVERQEE KESLGREVES LQSRLSLLEN ERENTSYDVT TLQDEEGELP
DLPGAEVLLS RQLSPSAQEH LASLQEQVAV LTRQNQELME KVQILENFEK DETQMEVEAL
AEVIPLALYD SLRAEFDQLR RQHAEALQAL RQQETREVPR EEGAACGESE VAGATATKNG
PTHMELNGSV APETKVNGAE TIDEEAAGDE TMEARTMEAE ATGAEATGAE ATGAKVTETK
PTGAEVREME TTEEEANMET KPTGAQATDT ETTGVEAMGV EATKTKAEEA EMQAYGVGAG
QAEPPVTGTT NMEATGSRAT GMESTGVSAT GVENPGVEAT VPGISAGPIL HPGAAEASEK
LQVELETRIR GLEEALRQRE REAAAELEAA LGKCEAAEAE AGRLRERVRE AEGSGASGGG
GGDTTQLRAA LEQAREDLRD RDSRLRELEA ASACLDEARA SRLLAEEEAR GLRAELAQRE
EARLEQSREL EVLREQLATA RATGEQQRTA AAELGRARDA AEARVAELPA ACEEARQGLA
ELREASEALR QSVVPASEHR RLQEEALELR GRAASLEQEV VATGKEAARL RAELERERVC
SVALSEHERI VGTLQANVAQ LEGQLEELGR RHEKTSAEVF QVQREALFMK SERHAAEAQL
ATAEQQLRGL RTEAERARQA QSRAQEALDK AKEKDKKITE LSKEVFNLKE ALKEQPAALA
TPEVEALRDQ VKDLQQQLQE AARDHSSVVA LYRSHLLYAI QGQMDEDVQR ILSQILQMQR
LQAQGR*
speed 0.69 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