Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999997654 (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) chr10:27317840C>TN/A show variant in all transcripts   IGV
HGNC symbol ANKRD26
Ensembl transcript ID ENST00000376087
Genbank transcript ID NM_001256053
UniProt peptide Q9UPS8
alteration type single base exchange
alteration region CDS
DNA changes c.3913G>A
cDNA.4079G>A
g.71582G>A
AA changes V1305I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1305
frameshift no
known variant Reference ID: rs10829163
databasehomozygous (T/T)heterozygousallele carriers
1000G3129651277
ExAC36851919022875
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.7040.326
-0.2970.323
(flanking)0.4660.617
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased71584wt: 0.59 / mu: 0.82wt: ACAGTCAAAAAGCAA
mu: ACAATCAAAAAGCAA		 AGTC|aaaa
Donor gained715820.40mu: TTACAATCAAAAAGC ACAA|tcaa
distance from splice site 35
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1305LEKDNAKLKVTVKKQMDKIEELQK
mutated  all conserved    1305LEKDNAKLKVTIKKQMDKIEELQ
Ptroglodytes  all conserved  ENSPTRG00000002376  1306LEKDNAKLKVTIKKQMDKIEELQ
Mmulatta  all conserved  ENSMMUG00000016403  1294LEKDNAKLKVTIKKQMDKIEELQ
Fcatus  all conserved  ENSFCAG00000014236  1085LQVKNATQEATIKHQAAQIQDLE
Mmusculus  all conserved  ENSMUSG00000007827  1277LELEKSKFEITIKKQSEEIDQ
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016302  1194LEIENARLEATANKQSKEINTLQ
Drerio  not conserved  ENSDARG00000013015  1753LEIENARLEATAKQQTNRIETLQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000021831  1305LEIENAKFEATAKQQAGQIDILQ
protein features
start (aa)end (aa)featuredetails 
9041471COILEDPotential.lost
13461346CONFLICTD -> G (in Ref. 3; BAC87508).might get lost (downstream of altered splice site)
13901390MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
15161522CONFLICTNNFASMK -> KQDLPDS (in Ref. 3; BAC87508).might get lost (downstream of altered splice site)
15161586COILEDPotential.might get lost (downstream of altered splice site)
16481673COILEDPotential.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 5133 / 5133
position (AA) of stopcodon in wt / mu AA sequence 1711 / 1711
position of stopcodon in wt / mu cDNA 5299 / 5299
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 167 / 167
chromosome 10
strand -1
last intron/exon boundary 5166
theoretical NMD boundary in CDS 4949
length of CDS 5133
coding sequence (CDS) position 3913
cDNA position
(for ins/del: last normal base / first normal base)		 4079
gDNA position
(for ins/del: last normal base / first normal base)		 71582
chromosomal position
(for ins/del: last normal base / first normal base)		 27317840
original gDNA sequence snippet ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA
altered gDNA sequence snippet ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA
original cDNA sequence snippet ATGCCAAGTTAAAAGTTACAGTCAAAAAGCAAATGGACAAA
altered cDNA sequence snippet ATGCCAAGTTAAAAGTTACAATCAAAAAGCAAATGGACAAA
wildtype AA sequence MKKIFSKKGE SPLGSFARRQ RSSAGGGGEP GEGAYSQPGY HVRDRDLGKI HKAASAGNVA
KVQQILLLRK NGLNDRDKMN RTALHLACAN GHPEVVTLLV DRKCQLNVCD NENRTALMKA
VQCQEEKCAT ILLEHGADPN LADVHGNTAL HYAVYNEDIS VATKLLLYDA NIEAKNKDDL
TPLLLAVSGK KQQMVEFLIK KKANVNAVDK LESSHQLISE YKEERIPKHS SQNSNSVDES
SEDSLSRLSG KPGVDDSWPT SDDEDLNFDT KNVPKPSLAK LMTASQQSRK NLEATYGTVR
TGNRTLFEDR DSDSQDEVVV ESLPTTSIKV QCFSHPTYQS PDLLPKPSHK SLANPGLMKE
EPTKPGIAKK ENGIDIIESA PLEQTNNDNL TYVDEVHKNN RSDMMSALGL GQEEDIESPW
DSESISENFP QKYVDPLAGA ADGKEKNIGN EQAEDVFYIP SCMSGSRNFK MAKLEDTRNV
GMPVAHMESP ERYLHLKPTI EMKDSVPNKA GGMKDVQTSK AAEHDLEVAS EEEQEREGSE
NNQPQVEEER KKHRNNEMEV SANIHDGATD DAEDDDDDDG LIQKRKSGET DHQQFPRKEN
KEYASSGPAL QMKEVKSTEK EKRTSKESVN SPVFGKASLL TGGLLQVDDD SSLSEIDEDE
GRPTKKTSNE KNKVKNQIQS MDDVDDLTQS SETASEDCEL PHSSYKNFML LIEQLGMECK
DSVSLLKIQD AALSCERLLE LKKNHCELLT VKIKKMEDKV NVLQRELSET KEIKSQLEHQ
KVEWERELCS LRFSLNQEEE KRRNADTLYE KIREQLRRKE EQYRKEVEVK QQLELSLQTL
EMELRTVKSN LNQVVQERND AQRQLSREQN ARMLQDGILT NHLSKQKEIE MAQKKMNSEN
SHSHEEEKDL SHKNSMLQEE IAMLRLEIDT IKNQNQEKEK KCFEDLKIVK EKNEDLQKTI
KQNEETLTQT ISQYNGRLSV LTAENAMLNS KLENEKQSKE RLEAEVESYH SRLAAAIHDR
DQSETSKREL ELAFQRARDE CSRLQDKMNF DVSNLKDNNE ILSQQLFKTE SKLNSLEIEF
HHTRDALREK TLGLERVQKD LSQTQCQMKE MEQKYQNEQV KVNKYIGKQE SVEERLSQLQ
SENMLLRQQL DDAHNKADNK EKTVINIQDQ FHAIVQKLQA ESEKQSLLLE ERNKELISEC
NHLKERQYQY ENEKAEREVV VRQLQQELAD TLKKQSMSEA SLEVTSRYRI NLEDETQDLK
KKLGQIRNQL QEAQDRHTEA VRCAEKMQDH KQKLEKDNAK LKVTVKKQMD KIEELQKNLL
NANLSEDEKE QLKKLMELKQ SLECNLDQEM KKNVELEREI TGFKNLLKMT RKKLNEYENG
EFSFHGDLKT SQFEMDIQIN KLKHKIDDLT AELETAGSKC LHLDTKNQIL QEELLSMKTV
QKKCEKLQKN KKKLEQEVIN LRSHIERNMV ELGQVKQYKQ EIEERARQEI AEKLKEVNLF
LQAQAASQEN LEQFRENNFA SMKSQMELRI KDLESELSKI KTSQEDFNKT ELEKYKQLYL
EELKVRKSLS SKLTKTNERL AEVNTKLLVE KQQSRSLFTT LTTRPVMEPP CVGNLNNSLD
LNRKLIPREN LVISTSNPRA SNNSMENYLS KMQQELEKNI TRELKEAAAE LESGSIASPL
GSTDESNLNQ DLVWKASREY VQVLKKNYMI *
mutated AA sequence MKKIFSKKGE SPLGSFARRQ RSSAGGGGEP GEGAYSQPGY HVRDRDLGKI HKAASAGNVA
KVQQILLLRK NGLNDRDKMN RTALHLACAN GHPEVVTLLV DRKCQLNVCD NENRTALMKA
VQCQEEKCAT ILLEHGADPN LADVHGNTAL HYAVYNEDIS VATKLLLYDA NIEAKNKDDL
TPLLLAVSGK KQQMVEFLIK KKANVNAVDK LESSHQLISE YKEERIPKHS SQNSNSVDES
SEDSLSRLSG KPGVDDSWPT SDDEDLNFDT KNVPKPSLAK LMTASQQSRK NLEATYGTVR
TGNRTLFEDR DSDSQDEVVV ESLPTTSIKV QCFSHPTYQS PDLLPKPSHK SLANPGLMKE
EPTKPGIAKK ENGIDIIESA PLEQTNNDNL TYVDEVHKNN RSDMMSALGL GQEEDIESPW
DSESISENFP QKYVDPLAGA ADGKEKNIGN EQAEDVFYIP SCMSGSRNFK MAKLEDTRNV
GMPVAHMESP ERYLHLKPTI EMKDSVPNKA GGMKDVQTSK AAEHDLEVAS EEEQEREGSE
NNQPQVEEER KKHRNNEMEV SANIHDGATD DAEDDDDDDG LIQKRKSGET DHQQFPRKEN
KEYASSGPAL QMKEVKSTEK EKRTSKESVN SPVFGKASLL TGGLLQVDDD SSLSEIDEDE
GRPTKKTSNE KNKVKNQIQS MDDVDDLTQS SETASEDCEL PHSSYKNFML LIEQLGMECK
DSVSLLKIQD AALSCERLLE LKKNHCELLT VKIKKMEDKV NVLQRELSET KEIKSQLEHQ
KVEWERELCS LRFSLNQEEE KRRNADTLYE KIREQLRRKE EQYRKEVEVK QQLELSLQTL
EMELRTVKSN LNQVVQERND AQRQLSREQN ARMLQDGILT NHLSKQKEIE MAQKKMNSEN
SHSHEEEKDL SHKNSMLQEE IAMLRLEIDT IKNQNQEKEK KCFEDLKIVK EKNEDLQKTI
KQNEETLTQT ISQYNGRLSV LTAENAMLNS KLENEKQSKE RLEAEVESYH SRLAAAIHDR
DQSETSKREL ELAFQRARDE CSRLQDKMNF DVSNLKDNNE ILSQQLFKTE SKLNSLEIEF
HHTRDALREK TLGLERVQKD LSQTQCQMKE MEQKYQNEQV KVNKYIGKQE SVEERLSQLQ
SENMLLRQQL DDAHNKADNK EKTVINIQDQ FHAIVQKLQA ESEKQSLLLE ERNKELISEC
NHLKERQYQY ENEKAEREVV VRQLQQELAD TLKKQSMSEA SLEVTSRYRI NLEDETQDLK
KKLGQIRNQL QEAQDRHTEA VRCAEKMQDH KQKLEKDNAK LKVTIKKQMD KIEELQKNLL
NANLSEDEKE QLKKLMELKQ SLECNLDQEM KKNVELEREI TGFKNLLKMT RKKLNEYENG
EFSFHGDLKT SQFEMDIQIN KLKHKIDDLT AELETAGSKC LHLDTKNQIL QEELLSMKTV
QKKCEKLQKN KKKLEQEVIN LRSHIERNMV ELGQVKQYKQ EIEERARQEI AEKLKEVNLF
LQAQAASQEN LEQFRENNFA SMKSQMELRI KDLESELSKI KTSQEDFNKT ELEKYKQLYL
EELKVRKSLS SKLTKTNERL AEVNTKLLVE KQQSRSLFTT LTTRPVMEPP CVGNLNNSLD
LNRKLIPREN LVISTSNPRA SNNSMENYLS KMQQELEKNI TRELKEAAAE LESGSIASPL
GSTDESNLNQ DLVWKASREY VQVLKKNYMI *
speed 0.91 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