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 ENST00000376070
Genbank transcript ID N/A
UniProt peptide Q9UPS8
alteration type single base exchange
alteration region CDS
DNA changes c.2584G>A
cDNA.2584G>A
g.71582G>A
AA changes V862I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 862
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      862LEKDNAKLKVTVKKQMDKIEELQK
mutated  all conserved    862LEKDNAKLKVTIKKQMDKIEELQ
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  1744LEIENARLEATAKQ
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000021831  1304LEIENAKFEATAKQQAGQ
protein features
start (aa)end (aa)featuredetails 
742872COILEDPotential.lost
9041471COILEDPotential.might get lost (downstream of altered splice site)
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 3804 / 3804
position (AA) of stopcodon in wt / mu AA sequence 1268 / 1268
position of stopcodon in wt / mu cDNA 3804 / 3804
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 1 / 1
chromosome 10
strand -1
last intron/exon boundary 3671
theoretical NMD boundary in CDS 3620
length of CDS 3804
coding sequence (CDS) position 2584
cDNA position
(for ins/del: last normal base / first normal base)		 2584
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 MNHMFHIKRH SISAGTDAYK KTKPIQNLFQ KPLYDHCSAN NYKSMEPELE NVRSSPPRGD
RTSKVSLKEE LQQDMQRFKN EIGMLKVEFQ ALEKEKVQLQ KEVEEERKKH RNNEMEVSAN
IHDGATDDAE DDDDDDGLIQ KRKSGETDHQ QFPRKENKEY ASSGPALQMK EVKSTEKEKR
TSKESVNSPV FGKASLLTGG LLQVDDDSSL SEIDEDEGRP TKKTSNEKNK VKNQIQSMDD
VDDLTQSSET ASEDCELPHS SYKNFMLLIE QLGMECKDSV SLLKIQDAAL SCERLLELKK
NHCELLTVKI KKMEDKVNVL QRELSETKEI KSQLEHQKVE WERELCSLRF SLNQEEEKRR
NADTLYEKIR EQLRRKEEQY RKEVEVKQQL ELSLQTLEME LRTVKSNLNQ VVQERNDAQR
QLSREQNARM LQDGILTNHL SKQKEIEMAQ KKMNSENSHS HEEEKDLSHK NSMLQEEIAM
LRLEIDTIKN QNQEKEKKCF EDLKIVKEKN EDLQKTIKQN EETLTQTISQ YNGRLSVLTA
ENAMLNSKLE NEKQSKERLE AEVESYHSRL AAAIHDRDQS ETSKRELELA FQRARDECSR
LQDKMNFDVS NLKDNNEILS QQLFKTESKL NSLEIEFHHT RDALREKTLG LERVQKDLSQ
TQCQMKEMEQ KYQNEQVKVN KYIGKQESVE ERLSQLQSEN MLLRQQLDDA HNKADNKEKT
VINIQDQFHA IVQKLQAESE KQSLLLEERN KELISECNHL KERQYQYENE KAEREVVVRQ
LQQELADTLK KQSMSEASLE VTSRYRINLE DETQDLKKKL GQIRNQLQEA QDRHTEAVRC
AEKMQDHKQK LEKDNAKLKV TVKKQMDKIE ELQKNLLNAN LSEDEKEQLK KLMELKQSLE
CNLDQEMKKN VELEREITGF KNLLKMTRKK LNEYENGEFS FHGDLKTSQF EMDIQINKLK
HKIDDLTAEL ETAGSKCLHL DTKNQILQEE LLSMKTVQKK CEKLQKNKKK LEQEVINLRS
HIERNMVELG QVKQYKQEIE ERARQEIAEK LKEVNLFLQA QAASQENLEQ FRENNFASMK
SQMELRIKDL ESELSKIKTS QEDFNKTELE KYKQLYLEEL KVRKSLSSKL TKTNERLAEV
NTKLLVEKQQ SRSLFTTLTT RPVMEPPCVG NLNNSLDLNR KLIPRENLVI STSNPRASNN
SMENYLSKMQ QELEKNITRE LKEAAAELES GSIASPLGST DESNLNQDLV WKASREYVQV
LKKNYMI*
mutated AA sequence MNHMFHIKRH SISAGTDAYK KTKPIQNLFQ KPLYDHCSAN NYKSMEPELE NVRSSPPRGD
RTSKVSLKEE LQQDMQRFKN EIGMLKVEFQ ALEKEKVQLQ KEVEEERKKH RNNEMEVSAN
IHDGATDDAE DDDDDDGLIQ KRKSGETDHQ QFPRKENKEY ASSGPALQMK EVKSTEKEKR
TSKESVNSPV FGKASLLTGG LLQVDDDSSL SEIDEDEGRP TKKTSNEKNK VKNQIQSMDD
VDDLTQSSET ASEDCELPHS SYKNFMLLIE QLGMECKDSV SLLKIQDAAL SCERLLELKK
NHCELLTVKI KKMEDKVNVL QRELSETKEI KSQLEHQKVE WERELCSLRF SLNQEEEKRR
NADTLYEKIR EQLRRKEEQY RKEVEVKQQL ELSLQTLEME LRTVKSNLNQ VVQERNDAQR
QLSREQNARM LQDGILTNHL SKQKEIEMAQ KKMNSENSHS HEEEKDLSHK NSMLQEEIAM
LRLEIDTIKN QNQEKEKKCF EDLKIVKEKN EDLQKTIKQN EETLTQTISQ YNGRLSVLTA
ENAMLNSKLE NEKQSKERLE AEVESYHSRL AAAIHDRDQS ETSKRELELA FQRARDECSR
LQDKMNFDVS NLKDNNEILS QQLFKTESKL NSLEIEFHHT RDALREKTLG LERVQKDLSQ
TQCQMKEMEQ KYQNEQVKVN KYIGKQESVE ERLSQLQSEN MLLRQQLDDA HNKADNKEKT
VINIQDQFHA IVQKLQAESE KQSLLLEERN KELISECNHL KERQYQYENE KAEREVVVRQ
LQQELADTLK KQSMSEASLE VTSRYRINLE DETQDLKKKL GQIRNQLQEA QDRHTEAVRC
AEKMQDHKQK LEKDNAKLKV TIKKQMDKIE ELQKNLLNAN LSEDEKEQLK KLMELKQSLE
CNLDQEMKKN VELEREITGF KNLLKMTRKK LNEYENGEFS FHGDLKTSQF EMDIQINKLK
HKIDDLTAEL ETAGSKCLHL DTKNQILQEE LLSMKTVQKK CEKLQKNKKK LEQEVINLRS
HIERNMVELG QVKQYKQEIE ERARQEIAEK LKEVNLFLQA QAASQENLEQ FRENNFASMK
SQMELRIKDL ESELSKIKTS QEDFNKTELE KYKQLYLEEL KVRKSLSSKL TKTNERLAEV
NTKLLVEKQQ SRSLFTTLTT RPVMEPPCVG NLNNSLDLNR KLIPRENLVI STSNPRASNN
SMENYLSKMQ QELEKNITRE LKEAAAELES GSIASPLGST DESNLNQDLV WKASREYVQV
LKKNYMI*
speed 1.02 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