Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00452353547150315 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 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 ENST00000453985
Genbank transcript ID N/A
UniProt peptide Q8IUA7
alteration type single base exchange
alteration region CDS
DNA changes c.3803A>C
cDNA.3875A>C
g.71214A>C
AA changes K1268T Score: 78 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1268
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      1268KKKNCFSKRKKKIATRNVSFCVKK
mutated  not conserved    1268CFSKRKKTIATRNVSFCVK
Ptroglodytes  all identical  ENSPTRG00000009583  1306KKKNCFSKRKKKIATRNVSFCVK
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000015675  1262KKRNCFAKRKKKVAIRNVSFCVK
Mmusculus  all identical  ENSMUSG00000041797  1305RTKRCFSKMKKKIATRNISFCVK
Ggallus  all identical  ENSGALG00000021399  1302KKAGSVFRKKKKVATKNISFC
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0031170  1392----------QFMAVNQVSLCVQ
Celegans  not conserved  Y39D8C.1  1456NNKTALVSNNLVKWYGNFNAVKGVNFHVN
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4761 / 4761
position (AA) of stopcodon in wt / mu AA sequence 1587 / 1587
position of stopcodon in wt / mu cDNA 4833 / 4833
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 73 / 73
chromosome 17
strand -1
last intron/exon boundary 4735
theoretical NMD boundary in CDS 4612
length of CDS 4761
coding sequence (CDS) position 3803
cDNA position
(for ins/del: last normal base / first normal base)		 3875
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 IQNLLIQVVI FSIVATDLNE YGFLGLFFGT MLIPPFTLIG
SLFIFSEISP DSMDYLGASE SEIVYLALLI PYLHFLIFLF ILRCLEMNCR KKLMRKDPVF
RISPRSNAIF PNPEEPEGEE EDIQMERMRT VNAMAVRDFD ETPVIIASCL RKEYAGKKKN
CFSKRKKKIA TRNVSFCVKK GEVIGLLGHN GAGKSTTIKM ITGDTKPTAG QVILKGSGGG
EPLGFLGYCP QENALWPNLT VRQHLEVYAA VKGLRKGDAM IAITRLVDAL KLQDQLKAPV
KTLSEGIKRK LCFVLSILGN PSVVLLDEPS TGMDPEGQQQ MWQVIRATFR NTERGALLTT
HYMAEAEAVC DRVAIMVSGR LRCIGSIQHL KSKFGKDYLL EMKLKNLAQM EPLHAEILRL
FPQAAQQERF SSLMVYKLPV EDVRPLSQAF FKLEIVKQSF DLEEYSLSQS TLEQVFLELS
KEQELGDLEE DFDPSVKWKL LLQEEP*
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 IQNLLIQVVI FSIVATDLNE YGFLGLFFGT MLIPPFTLIG
SLFIFSEISP DSMDYLGASE SEIVYLALLI PYLHFLIFLF ILRCLEMNCR KKLMRKDPVF
RISPRSNAIF PNPEEPEGEE EDIQMERMRT VNAMAVRDFD ETPVIIASCL RKEYAGKKKN
CFSKRKKTIA TRNVSFCVKK GEVIGLLGHN GAGKSTTIKM ITGDTKPTAG QVILKGSGGG
EPLGFLGYCP QENALWPNLT VRQHLEVYAA VKGLRKGDAM IAITRLVDAL KLQDQLKAPV
KTLSEGIKRK LCFVLSILGN PSVVLLDEPS TGMDPEGQQQ MWQVIRATFR NTERGALLTT
HYMAEAEAVC DRVAIMVSGR LRCIGSIQHL KSKFGKDYLL EMKLKNLAQM EPLHAEILRL
FPQAAQQERF SSLMVYKLPV EDVRPLSQAF FKLEIVKQSF DLEEYSLSQS TLEQVFLELS
KEQELGDLEE DFDPSVKWKL LLQEEP*
speed 1.37 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