Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999897263      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM013507)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr7:87035609G>AN/A show variant in all transcripts   IGV
HGNC symbol ABCB4
Ensembl transcript ID ENST00000265723
Genbank transcript ID NM_000443
UniProt peptide P21439
alteration type single base exchange
alteration region CDS
DNA changes c.3502C>T
cDNA.3614C>T
g.74143C>T
AA changes P1168S Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1168
frameshift no
known variant Reference ID: rs121918442
databasehomozygous (A/A)heterozygousallele carriers
1000G---
ExAC044

known disease mutation at this position, please check HGMD for details (HGMD ID CM013507)

known disease mutation at this position, please check HGMD for details (HGMD ID CM013507)
known disease mutation at this position, please check HGMD for details (HGMD ID CM013507)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.1721
6.1721
(flanking)-0.4520.752
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased74152wt: 0.48 / mu: 0.60wt: TCGAGACGTTACCCCACGTAAGTTAAAGAGTAGCTGAAATC
mu: TCGAGACGTTATCCCACGTAAGTTAAAGAGTAGCTGAAATC		 gtaa|GTTA
Acc marginally increased74134wt: 0.6410 / mu: 0.6690 (marginal change - not scored)wt: CCAACATACATCCTTTCATCGAGACGTTACCCCACGTAAGT
mu: CCAACATACATCCTTTCATCGAGACGTTATCCCACGTAAGT		 atcg|AGAC
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1168AANIHPFIETLPHKYETRVGDKGT
mutated  not conserved    1168AANIHPFIETLSHKYETRVGDKG
Ptroglodytes  all identical  ENSPTRG00000024082  1168AANIHPFIETLPHKYETRVGDKG
Mmulatta  all identical  ENSMMUG00000010788  1150AANIHPFIETLPHKYETRVGDKG
Fcatus  no alignment  ENSFCAG00000003276  n/a
Mmusculus  all identical  ENSMUSG00000042476  1158EANIHPFIETLPQKYNTRVGDKG
Ggallus  all identical  ENSGALG00000023271  1136IESLPKKYNTRVGDKG
Trubripes  not conserved  ENSTRUG00000005770  1192-------------RYDTQAGDKG
Drerio  all identical  ENSDARG00000010936  1160AANIHSFIENLPQRYQTQAGDKG
Dmelanogaster  all identical  FBgn0010241  1197KSNIHEFIANLPLGYDTRMGEKG
Celegans  all identical  C34G6.4  1155MANIHNFILGLPDGYD
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
9951286TOPO_DOMCytoplasmic (By similarity).lost
10341279DOMAINABC transporter 2.lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3861 / 3861
position (AA) of stopcodon in wt / mu AA sequence 1287 / 1287
position of stopcodon in wt / mu cDNA 3973 / 3973
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 113 / 113
chromosome 7
strand -1
last intron/exon boundary 3767
theoretical NMD boundary in CDS 3604
length of CDS 3861
coding sequence (CDS) position 3502
cDNA position
(for ins/del: last normal base / first normal base)		 3614
gDNA position
(for ins/del: last normal base / first normal base)		 74143
chromosomal position
(for ins/del: last normal base / first normal base)		 87035609
original gDNA sequence snippet ATCCTTTCATCGAGACGTTACCCCACGTAAGTTAAAGAGTA
altered gDNA sequence snippet ATCCTTTCATCGAGACGTTATCCCACGTAAGTTAAAGAGTA
original cDNA sequence snippet ATCCTTTCATCGAGACGTTACCCCACAAATATGAAACAAGA
altered cDNA sequence snippet ATCCTTTCATCGAGACGTTATCCCACAAATATGAAACAAGA
wildtype AA sequence MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG
DNSRVVSQDE IVSAAKAANI HPFIETLPHK YETRVGDKGT QLSGGQKQRI AIARALIRQP
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH
GTHQQLLAQK GIYFSMVSVQ AGTQNL*
mutated AA sequence MDLEAAKNGT AWRPTSAEGD FELGISSKQK RKKTKTVKMI GVLTLFRYSD WQDKLFMSLG
TIMAIAHGSG LPLMMIVFGE MTDKFVDTAG NFSFPVNFSL SLLNPGKILE EEMTRYAYYY
SGLGAGVLVA AYIQVSFWTL AAGRQIRKIR QKFFHAILRQ EIGWFDINDT TELNTRLTDD
ISKISEGIGD KVGMFFQAVA TFFAGFIVGF IRGWKLTLVI MAISPILGLS AAVWAKILSA
FSDKELAAYA KAGAVAEEAL GAIRTVIAFG GQNKELERYQ KHLENAKEIG IKKAISANIS
MGIAFLLIYA SYALAFWYGS TLVISKEYTI GNAMTVFFSI LIGAFSVGQA APCIDAFANA
RGAAYVIFDI IDNNPKIDSF SERGHKPDSI KGNLEFNDVH FSYPSRANVK ILKGLNLKVQ
SGQTVALVGS SGCGKSTTVQ LIQRLYDPDE GTINIDGQDI RNFNVNYLRE IIGVVSQEPV
LFSTTIAENI CYGRGNVTMD EIKKAVKEAN AYEFIMKLPQ KFDTLVGERG AQLSGGQKQR
IAIARALVRN PKILLLDEAT SALDTESEAE VQAALDKARE GRTTIVIAHR LSTVRNADVI
AGFEDGVIVE QGSHSELMKK EGVYFKLVNM QTSGSQIQSE EFELNDEKAA TRMAPNGWKS
RLFRHSTQKN LKNSQMCQKS LDVETDGLEA NVPPVSFLKV LKLNKTEWPY FVVGTVCAIA
NGGLQPAFSV IFSEIIAIFG PGDDAVKQQK CNIFSLIFLF LGIISFFTFF LQGFTFGKAG
EILTRRLRSM AFKAMLRQDM SWFDDHKNST GALSTRLATD AAQVQGATGT RLALIAQNIA
NLGTGIIISF IYGWQLTLLL LAVVPIIAVS GIVEMKLLAG NAKRDKKELE AAGKIATEAI
ENIRTVVSLT QERKFESMYV EKLYGPYRNS VQKAHIYGIT FSISQAFMYF SYAGCFRFGA
YLIVNGHMRF RDVILVFSAI VFGAVALGHA SSFAPDYAKA KLSAAHLFML FERQPLIDSY
SEEGLKPDKF EGNITFNEVV FNYPTRANVP VLQGLSLEVK KGQTLALVGS SGCGKSTVVQ
LLERFYDPLA GTVFVDFGFQ LLDGQEAKKL NVQWLRAQLG IVSQEPILFD CSIAENIAYG
DNSRVVSQDE IVSAAKAANI HPFIETLSHK YETRVGDKGT QLSGGQKQRI AIARALIRQP
QILLLDEATS ALDTESEKVV QEALDKAREG RTCIVIAHRL STIQNADLIV VFQNGRVKEH
GTHQQLLAQK GIYFSMVSVQ AGTQNL*
speed 0.56 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