Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:4217510A>TN/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.2353A>T
cDNA.2509A>T
g.31244A>T
AA changes T785S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 785
frameshift no
known variant Reference ID: rs12980998
databasehomozygous (T/T)heterozygousallele carriers
1000G1919691160
ExAC53540
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.7960
0.8530.001
(flanking)-0.9230.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased31248wt: 0.9480 / mu: 0.9482 (marginal change - not scored)wt: CACACAGCTGCGGGC
mu: CTCACAGCTGCGGGC		 CACA|gctg
distance from splice site 651
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      785SGASGGGGGDTTQLRAALEQARED
mutated  all conserved    785GGDTSQLRAALEQARE
Ptroglodytes  all identical  ENSPTRG00000010297  744GGDTTHLLAALEHAWY
Mmulatta  not conserved  ENSMMUG00000028928  237S-AEVIPLALYDSLRAEFDQLRR
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000054708  819TATATG-----ERARTEAAELRQ
Ggallus  not conserved  ENSGALG00000001235  672----------ALQQRADRLQAAA
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000062103  758D--------DEPSE
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7141110COILEDPotential.lost
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 2353
cDNA position
(for ins/del: last normal base / first normal base)		 2509
gDNA position
(for ins/del: last normal base / first normal base)		 31244
chromosomal position
(for ins/del: last normal base / first normal base)		 4217510
original gDNA sequence snippet GGGGCGGTGGCGGTGACACCACACAGCTGCGGGCGGCCCTG
altered gDNA sequence snippet GGGGCGGTGGCGGTGACACCTCACAGCTGCGGGCGGCCCTG
original cDNA sequence snippet GGGGCGGTGGCGGTGACACCACACAGCTGCGGGCGGCCCTG
altered cDNA sequence snippet GGGGCGGTGGCGGTGACACCTCACAGCTGCGGGCGGCCCTG
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 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
GGDTSQLRAA 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 0.68 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