Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00272895020024222 (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) chr17:66985992T>GN/A show variant in all transcripts   IGV
HGNC symbol ABCA9
Ensembl transcript ID ENST00000340001
Genbank transcript ID NM_080283
UniProt peptide Q8IUA7
alteration type single base exchange
alteration region CDS
DNA changes c.3917A>C
cDNA.4129A>C
g.71214A>C
AA changes K1306T Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1306
frameshift no
known variant Reference ID: rs2302294
databasehomozygous (G/G)heterozygousallele carriers
1000G5519681519
ExAC21458-1014911309
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8191
2.771
(flanking)4.2961
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 increased71205wt: 0.6437 / mu: 0.6787 (marginal change - not scored)wt: TAAAAGGAAGAAAAA
mu: TAAAAGGAAGAAAAC		 AAAG|gaag
distance from splice site 39
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1306KKKNCFSKRKKKIATRNVSFCVKK
mutated  not conserved    1306KKKNCFSKRKKTIATRNVSFCVK
Ptroglodytes  all identical  ENSPTRG00000009583  1306KKKNCFSKRKKKIATRNVSFCVK
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000015675  1262KKRNCFAKRKKKVAIRNVSFCVK
Mmusculus  all identical  ENSMUSG00000041797  1305RTKRCFSKMKKKIATRNISFCVK
Ggallus  all identical  ENSGALG00000021399  1302KKAGSVFRKKKKVATKNIS
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0031170  1392----------QFMAVNQVSLCVQ
Celegans  not conserved  Y39D8C.1  1472NFN----------AVKG
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12881521DOMAINABC transporter 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4875 / 4875
position (AA) of stopcodon in wt / mu AA sequence 1625 / 1625
position of stopcodon in wt / mu cDNA 5087 / 5087
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 213 / 213
chromosome 17
strand -1
last intron/exon boundary 4989
theoretical NMD boundary in CDS 4726
length of CDS 4875
coding sequence (CDS) position 3917
cDNA position
(for ins/del: last normal base / first normal base)		 4129
gDNA position
(for ins/del: last normal base / first normal base)		 71214
chromosomal position
(for ins/del: last normal base / first normal base)		 66985992
original gDNA sequence snippet CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT
altered gDNA sequence snippet CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT
original cDNA sequence snippet CTTTTCTAAAAGGAAGAAAAAAATTGCCACAAGAAATGTCT
altered cDNA sequence snippet CTTTTCTAAAAGGAAGAAAACAATTGCCACAAGAAATGTCT
wildtype AA sequence MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS
FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED
IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKKIATR NVSFCVKKGE
VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR
QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS
VVLLDEPSTG MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR
CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS LMVYKLPVED
VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE QELGDLEEDF DPSVKWKLLL
QEEP*
mutated AA sequence MSKRRMSVGQ QTWALLCKNC LKKWRMKRQT LLEWLFSFLL VLFLYLFFSN LHQVHDTPQM
SSMDLGRVDS FNDTNYVIAF APESKTTQEI MNKVASAPFL KGRTIMGWPD EKSMDELDLN
YSIDAVRVIF TDTFSYHLKF SWGHRIPMMK EHRDHSAHCQ AVNEKMKCEG SEFWEKGFVA
FQAAINAAII EIATNHSVME QLMSVTGVHM KILPFVAQGG VATDFFIFFC IISFSTFIYY
VSVNVTQERQ YITSLMTMMG LRESAFWLSW GLMYAGFILI MATLMALIVK SAQIVVLTGF
VMVFTLFLLY GLSLITLAFL MSVLIKKPFL TGLVVFLLIV FWGILGFPAL YTRLPAFLEW
TLCLLSPFAF TVGMAQLIHL DYDVNSNAHL DSSQNPYLII ATLFMLVFDT LLYLVLTLYF
DKILPAEYGH RCSPLFFLKS CFWFQHGRAN HVVLENETDS DPTPNDCFEP VSPEFCGKEA
IRIKNLKKEY AGKCERVEAL KGVVFDIYEG QITALLGHSG AGKTTLLNIL SGLSVPTSGS
VTVYNHTLSR MADIENISKF TGFCPQSNVQ FGFLTVKENL RLFAKIKGIL PHEVEKEVQR
VVQELEMENI QDILAQNLSG GQNRKLTFGI AILGDPQVLL LDEPTAGLDP LSRHRIWNLL
KEGKSDRVIL FSTQFIDEAD ILADRKVFIS NGKLKCAGSS LFLKKKWGIG YHLSLHLNER
CDPESITSLV KQHISDAKLT AQSEEKLVYI LPLERTNKFP ELYRDLDRCS NQGIEDYGVS
ITTLNEVFLK LEGKSTIDES DIGIWGQLQT DGAKDIGSLV ELEQVLSSFH ETRKTISGVA
LWRQQVCAIA KVRFLKLKKE RKSLWTILLL FGISFIPQLL EHLFYESYQK SYPWELSPNT
YFLSPGQQPQ DPLTHLLVIN KTGSTIDNFL HSLRRQNIAI EVDAFGTRNG TDDPSYNGAI
IVSGDEKDHR FSIACNTKRL NCFPVLLDVI SNGLLGIFNS SEHIQTDRST FFEEHMDYEY
GYRSNTFFWI PMAASFTPYI AMSSIGDYKK KAHSQLRISG LYPSAYWFGQ ALVDVSLYFL
ILLLMQIMDY IFSPEEIIFI IQNLLIQILC SIGYVSSLVF LTYVISFIFR NGRKNSGIWS
FFFLIVVIFS IVATDLNEYG FLGLFFGTML IPPFTLIGSL FIFSEISPDS MDYLGASESE
IVYLALLIPY LHFLIFLFIL RCLEMNCRKK LMRKDPVFRI SPRSNAIFPN PEEPEGEEED
IQMERMRTVN AMAVRDFDET PVIIASCLRK EYAGKKKNCF SKRKKTIATR NVSFCVKKGE
VIGLLGHNGA GKSTTIKMIT GDTKPTAGQV ILKGSGGGEP LGFLGYCPQE NALWPNLTVR
QHLEVYAAVK GLRKGDAMIA ITRLVDALKL QDQLKAPVKT LSEGIKRKLC FVLSILGNPS
VVLLDEPSTG MDPEGQQQMW QVIRATFRNT ERGALLTTHY MAEAEAVCDR VAIMVSGRLR
CIGSIQHLKS KFGKDYLLEM KLKNLAQMEP LHAEILRLFP QAAQQERFSS LMVYKLPVED
VRPLSQAFFK LEIVKQSFDL EEYSLSQSTL EQVFLELSKE QELGDLEEDF DPSVKWKLLL
QEEP*
speed 1.25 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