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 ENST00000436985
Genbank transcript ID N/A
UniProt peptide Q9UPS8
alteration type single base exchange
alteration region CDS
DNA changes c.3961G>A
cDNA.4026G>A
g.71582G>A
AA changes V1321I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1321
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      1321LEKDNAKLKVTVKKQMDKIEELQK
mutated  all conserved    1321IKKQMDKIEELQ
Ptroglodytes  all conserved  ENSPTRG00000002376  1306LEKDNAKLKVTIKKQMDKIEELQ
Mmulatta  all conserved  ENSMMUG00000016403  1294LEKDNAKLKVTIKKQMDKIEELQ
Fcatus  all conserved  ENSFCAG00000014236  1085LQVKNATQEATIKHQAAQIQDLE
Mmusculus  all conserved  ENSMUSG00000007827  1277LELEKSKFEITIKKQSEEIDQLQ
Ggallus  no homologue    
Trubripes  not conserved  ENSTRUG00000016302  1193LEIENARLEATANKQSKEINTLQ
Drerio  not conserved  ENSDARG00000013015  1779LEIENARLEATAKQQTNRIETLQ
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 5181 / 5181
position (AA) of stopcodon in wt / mu AA sequence 1727 / 1727
position of stopcodon in wt / mu cDNA 5246 / 5246
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 66 / 66
chromosome 10
strand -1
last intron/exon boundary 5113
theoretical NMD boundary in CDS 4997
length of CDS 5181
coding sequence (CDS) position 3961
cDNA position
(for ins/del: last normal base / first normal base)		 4026
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
SEDSLSSLFY FIFFETKSCT VAQAGVLQHD LSSLQSLLPG FTQFFCLHLP SSWDHRLSGK
PGVDDSWPTS DDEDLNFDTK NVPKPSLAKL MTASQQSRKN LEATYGTVRT GNRTLFEDRD
SDSQDEVVVE SLPTTSIKVQ CFSHPTYQSP DLLPKPSHKS LANPGLMKEE PTKPGIAKKE
NGIDIIESAP LEQTNNDNLT YVDEVHKNNR SDMMSALGLG QEEDIESPWD SESISENFPQ
KYVDPLAGAA DGKEKNIGNE QAEESPERYL HLKPTIEMKD SVPNKAGGMK DVQTSKAAEH
DLEVASEEEQ EREGSENNQP QVEEERKKHR NNEMEVSANI HDGATDDAED DDDDDGLIQK
RKSGETDHQQ FPRKENKEYA SSGPALQMKE VKSTEKEKRT SKESVNSPVF GKASLLTGGL
LQVDDDSSLS EIDEDEGRPT KKTSNEKNKV KNQIQSMDDV DDLTQSSETA SEDCELPHSS
YKNFMLLIEQ LGMECKDSVS LLKIQDAALS CERLLELKKN HCELLTVKIK KMEDKVNVLQ
RELSETKEIK SQLEHQKVEW ERELCSLRFS LNQEEEKRRN ADTLYEKIRE QLRRKEEQYR
KEVEVKQQLE LSLQTLEMEL RTVKSNLNQV VQERNDAQRQ LSREQNARML QDGILTNHLS
KQKEIEMAQK KMNSENSHSH EEEKDLSHKN SMLQEEIAML RLEIDTIKNQ NQEKEKKCFE
DLKIVKEKNE DLQKTIKQNE ETLTQTISQY NGRLSVLTAE NAMLNSKLEN EKQSKERLEA
EVESYHSRLA AAIHDRDQSE TSKRELELAF QRARDECSRL QDKMNFDVSN LKDNNEILSQ
QLFKTESKLN SLEIEFHHTR DALREKTLGL ERVQKDLSQT QCQMKEMEQK YQNEQVKVNK
YIGKQESVEE RLSQLQSENM LLRQQLDDAH NKADNKEKTV INIQDQFHAI VQKLQAESEK
QSLLLEERNK ELISECNHLK ERQYQYENEK AEREVVVRQL QQELADTLKK QSMSEASLEV
TSRYRINLED ETQDLKKKLG QIRNQLQEAQ DRHTEAVRCA EKMQDHKQKL EKDNAKLKVT
VKKQMDKIEE LQKNLLNANL SEDEKEQLKK LMELKQSLEC NLDQEMKKNV ELEREITGFK
NLLKMTRKKL NEYENGEFSF HGDLKTSQFE MDIQINKLKH KIDDLTAELE TAGSKCLHLD
TKNQILQEEL LSMKTVQKKC EKLQKNKKKL EQEVINLRSH IERNMVELGQ VKQYKQEIEE
RARQEIAEKL KEVNLFLQAQ AASQENLEQF RENNFASMKS QMELRIKDLE SELSKIKTSQ
EDFNKTELEK YKQLYLEELK VRKSLSSKLT KTNERLAEVN TKLLVEKQQS RSLFTTLTTR
PVMEPPCVGN LNNSLDLNRK LIPRENLVIS TSNPRASNNS MENYLSKMQQ ELEKNITREL
KEAAAELESG SIASPLGSTD ESNLNQDLVW KASREYVQVL KKNYMI*
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
SEDSLSSLFY FIFFETKSCT VAQAGVLQHD LSSLQSLLPG FTQFFCLHLP SSWDHRLSGK
PGVDDSWPTS DDEDLNFDTK NVPKPSLAKL MTASQQSRKN LEATYGTVRT GNRTLFEDRD
SDSQDEVVVE SLPTTSIKVQ CFSHPTYQSP DLLPKPSHKS LANPGLMKEE PTKPGIAKKE
NGIDIIESAP LEQTNNDNLT YVDEVHKNNR SDMMSALGLG QEEDIESPWD SESISENFPQ
KYVDPLAGAA DGKEKNIGNE QAEESPERYL HLKPTIEMKD SVPNKAGGMK DVQTSKAAEH
DLEVASEEEQ EREGSENNQP QVEEERKKHR NNEMEVSANI HDGATDDAED DDDDDGLIQK
RKSGETDHQQ FPRKENKEYA SSGPALQMKE VKSTEKEKRT SKESVNSPVF GKASLLTGGL
LQVDDDSSLS EIDEDEGRPT KKTSNEKNKV KNQIQSMDDV DDLTQSSETA SEDCELPHSS
YKNFMLLIEQ LGMECKDSVS LLKIQDAALS CERLLELKKN HCELLTVKIK KMEDKVNVLQ
RELSETKEIK SQLEHQKVEW ERELCSLRFS LNQEEEKRRN ADTLYEKIRE QLRRKEEQYR
KEVEVKQQLE LSLQTLEMEL RTVKSNLNQV VQERNDAQRQ LSREQNARML QDGILTNHLS
KQKEIEMAQK KMNSENSHSH EEEKDLSHKN SMLQEEIAML RLEIDTIKNQ NQEKEKKCFE
DLKIVKEKNE DLQKTIKQNE ETLTQTISQY NGRLSVLTAE NAMLNSKLEN EKQSKERLEA
EVESYHSRLA AAIHDRDQSE TSKRELELAF QRARDECSRL QDKMNFDVSN LKDNNEILSQ
QLFKTESKLN SLEIEFHHTR DALREKTLGL ERVQKDLSQT QCQMKEMEQK YQNEQVKVNK
YIGKQESVEE RLSQLQSENM LLRQQLDDAH NKADNKEKTV INIQDQFHAI VQKLQAESEK
QSLLLEERNK ELISECNHLK ERQYQYENEK AEREVVVRQL QQELADTLKK QSMSEASLEV
TSRYRINLED ETQDLKKKLG QIRNQLQEAQ DRHTEAVRCA EKMQDHKQKL EKDNAKLKVT
IKKQMDKIEE LQKNLLNANL SEDEKEQLKK LMELKQSLEC NLDQEMKKNV ELEREITGFK
NLLKMTRKKL NEYENGEFSF HGDLKTSQFE MDIQINKLKH KIDDLTAELE TAGSKCLHLD
TKNQILQEEL LSMKTVQKKC EKLQKNKKKL EQEVINLRSH IERNMVELGQ VKQYKQEIEE
RARQEIAEKL KEVNLFLQAQ AASQENLEQF RENNFASMKS QMELRIKDLE SELSKIKTSQ
EDFNKTELEK YKQLYLEELK VRKSLSSKLT KTNERLAEVN TKLLVEKQQS RSLFTTLTTR
PVMEPPCVGN LNNSLDLNRK LIPRENLVIS TSNPRASNNS MENYLSKMQQ ELEKNITREL
KEAAAELESG SIASPLGSTD ESNLNQDLVW KASREYVQVL KKNYMI*
speed 1.04 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