Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999994611528625 (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) chr6:74497009A>GN/A show variant in all transcripts   IGV
HGNC symbol CD109
Ensembl transcript ID ENST00000287097
Genbank transcript ID NM_133493
UniProt peptide Q6YHK3
alteration type single base exchange
alteration region CDS
DNA changes c.2390A>G
cDNA.2502A>G
g.91502A>G
AA changes N797S Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 797
frameshift no
known variant Reference ID: rs2351528
databasehomozygous (G/G)heterozygousallele carriers
1000G36611331499
ExAC84861579524281
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.8890.772
0.3120.815
(flanking)0.6580.916
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased91496wt: 0.60 / mu: 0.97wt: AATGACTTCAAATGA
mu: AATGACTTCAAGTGA		 TGAC|ttca
Donor increased91501wt: 0.80 / mu: 1.00wt: CTTCAAATGAAATAA
mu: CTTCAAGTGAAATAA		 TCAA|atga
Acc gained915010.36mu: TTGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGC tcaa|GTGA
distance from splice site 53
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      797KSDKFDILMTSNEINATGHQQTLL
mutated  all conserved    797KSDKFDILMTSSEINATGHQQTL
Ptroglodytes  all conserved  ENSPTRG00000018349  797KSDKFDILMTSSEINATGHQQTL
Mmulatta  all conserved  ENSMMUG00000017806  796KSDKFDILMTSSEINATGHQQTI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000046186  799ESDSFDILMTSNDTNGTIYRKTV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000060609  830STDSADFSVANVRKV
Dmelanogaster  no homologue    
Celegans  not conserved  ZK337.1  861KDSGYDLLKKDGTVVRRDEVGQQNVR
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
803803CONFLICTG -> S (in Ref. 2; AAN78483).might get lost (downstream of altered splice site)
921924CROSSLNKIsoglutamyl cysteine thioester (Cys-Gln) (By similarity).might get lost (downstream of altered splice site)
10461046CONFLICTV -> A (in Ref. 5; ABQ66266).might get lost (downstream of altered splice site)
10861086CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
14181418CONFLICTD -> N (in Ref. 4; BAG53987).might get lost (downstream of altered splice site)
14201420LIPIDGPI-anchor amidated alanine (Potential).might get lost (downstream of altered splice site)
14211445PROPEPRemoved in mature form (Potential). /FTId=PRO_0000255946.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4338 / 4338
position (AA) of stopcodon in wt / mu AA sequence 1446 / 1446
position of stopcodon in wt / mu cDNA 4450 / 4450
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 6
strand 1
last intron/exon boundary 4275
theoretical NMD boundary in CDS 4112
length of CDS 4338
coding sequence (CDS) position 2390
cDNA position
(for ins/del: last normal base / first normal base)		 2502
gDNA position
(for ins/del: last normal base / first normal base)		 91502
chromosomal position
(for ins/del: last normal base / first normal base)		 74497009
original gDNA sequence snippet TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC
altered gDNA sequence snippet TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC
original cDNA sequence snippet TGATATTCTAATGACTTCAAATGAAATAAATGCCACAGGCC
altered cDNA sequence snippet TGATATTCTAATGACTTCAAGTGAAATAAATGCCACAGGCC
wildtype AA sequence MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSNEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPVKF LIDTHNRLLL QTAELAVVQP TAVNISANGF GFAICQLNVV
YNVKASGSSR RRRSIQNQEA FDLDVAVKEN KDDLNHVDLN VCTSFSGPGR SGMALMEVNL
LSGFMVPSEA ISLSETVKKV EYDHGKLNLY LDSVNETQFC VNIPAVRNFK VSNTQDASVS
IVDYYEPRRQ AVRSYNSEVK LSSCDLCSDV QGCRPCEDGA SGSHHHSSVI FIFCFKLLYF
MELWL*
mutated AA sequence MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSLPLNSADE IYELRVTGRT QDEILFSNST
RLSFETKRIS VFIQTDKALY KPKQEVKFRI VTLFSDFKPY KTSLNILIKD PKSNLIQQWL
SQQSDLGVIS KTFQLSSHPI LGDWSIQVQV NDQTYYQSFQ VSEYVLPKFE VTLQTPLYCS
MNSKHLNGTI TAKYTYGKPV KGDVTLTFLP LSFWGKKKNI TKTFKINGSA NFSFNDEEMK
NVMDSSNGLS EYLDLSSPGP VEILTTVTES VTGISRNVST NVFFKQHDYI IEFFDYTTVL
KPSLNFTATV KVTRADGNQL TLEERRNNVV ITVTQRNYTE YWSGSNSGNQ KMEAVQKINY
TVPQSGTFKI EFPILEDSSE LQLKAYFLGS KSSMAVHSLF KSPSKTYIQL KTRDENIKVG
SPFELVVSGN KRLKELSYMV VSRGQLVAVG KQNSTMFSLT PENSWTPKAC VIVYYIEDDG
EIISDVLKIP VQLVFKNKIK LYWSKVKAEP SEKVSLRISV TQPDSIVGIV AVDKSVNLMN
ASNDITMENV VHELELYNTG YYLGMFMNSF AVFQECGLWV LTDANLTKDY IDGVYDNAEY
AERFMEENEG HIVDIHDFSL GSSPHVRKHF PETWIWLDTN MGYRIYQEFE VTVPDSITSW
VATGFVISED LGLGLTTTPV ELQAFQPFFI FLNLPYSVIR GEEFALEITI FNYLKDATEV
KVIIEKSDKF DILMTSSEIN ATGHQQTLLV PSEDGATVLF PIRPTHLGEI PITVTALSPT
ASDAVTQMIL VKAEGIEKSY SQSILLDLTD NRLQSTLKTL SFSFPPNTVT GSERVQITAI
GDVLGPSING LASLIRMPYG CGEQNMINFA PNIYILDYLT KKKQLTDNLK EKALSFMRQG
YQRELLYQRE DGSFSAFGNY DPSGSTWLSA FVLRCFLEAD PYIDIDQNVL HRTYTWLKGH
QKSNGEFWDP GRVIHSELQG GNKSPVTLTA YIVTSLLGYR KYQPNIDVQE SIHFLESEFS
RGISDNYTLA LITYALSSVG SPKAKEALNM LTWRAEQEGG MQFWVSSESK LSDSWQPRSL
DIEVAAYALL SHFLQFQTSE GIPIMRWLSR QRNSLGGFAS TQDTTVALKA LSEFAALMNT
ERTNIQVTVT GPSSPSPVKF LIDTHNRLLL QTAELAVVQP TAVNISANGF GFAICQLNVV
YNVKASGSSR RRRSIQNQEA FDLDVAVKEN KDDLNHVDLN VCTSFSGPGR SGMALMEVNL
LSGFMVPSEA ISLSETVKKV EYDHGKLNLY LDSVNETQFC VNIPAVRNFK VSNTQDASVS
IVDYYEPRRQ AVRSYNSEVK LSSCDLCSDV QGCRPCEDGA SGSHHHSSVI FIFCFKLLYF
MELWL*
speed 1.61 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