Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999919130615 (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) chr6:74497152G>AN/A show variant in all transcripts   IGV
HGNC symbol CD109
Ensembl transcript ID ENST00000422508
Genbank transcript ID NM_001159588
UniProt peptide Q6YHK3
alteration type single base exchange
alteration region CDS
DNA changes c.2302G>A
cDNA.2733G>A
g.91645G>A
AA changes V768I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 768
frameshift no
known variant Reference ID: rs5023688
databasehomozygous (A/A)heterozygousallele carriers
1000G36411331497
ExAC84711582524296
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.9340
-3.1470
(flanking)4.5810.995
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased91636wt: 0.5329 / mu: 0.5507 (marginal change - not scored)wt: CAGCTCTTTCACCCACTGCTTCTGATGCTGTCACCCAGATG
mu: CAGCTCTTTCACCCACTGCTTCTGATGCTATCACCCAGATG		 gctt|CTGA
Donor gained916500.41mu: ATCACCCAGATGATT CACC|caga
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      768VTALSPTASDAVTQMILVKAEGIE
mutated  all conserved    768VTALSPTASDAITQMILVKAEGI
Ptroglodytes  all conserved  ENSPTRG00000018349  845VTALSPTASDAITQMILVKAEGI
Mmulatta  all conserved  ENSMMUG00000017806  844VTALSPTASDAITQMILVKAEGI
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000046186  847VTAASPTASDAVTQTIVVKPEGI
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000060609  878VYSSDWLYKTVLVKPEGL
Dmelanogaster  no homologue    
Celegans  all identical  ZK337.1  917ISAIASQGGDAVEMNLRVDPQGY
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
789789CONFLICTK -> E (in Ref. 4; BAG36395).might get lost (downstream of altered splice site)
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 4107 / 4107
position (AA) of stopcodon in wt / mu AA sequence 1369 / 1369
position of stopcodon in wt / mu cDNA 4538 / 4538
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 432 / 432
chromosome 6
strand 1
last intron/exon boundary 4363
theoretical NMD boundary in CDS 3881
length of CDS 4107
coding sequence (CDS) position 2302
cDNA position
(for ins/del: last normal base / first normal base)		 2733
gDNA position
(for ins/del: last normal base / first normal base)		 91645
chromosomal position
(for ins/del: last normal base / first normal base)		 74497152
original gDNA sequence snippet CACCCACTGCTTCTGATGCTGTCACCCAGATGATTTTAGTA
altered gDNA sequence snippet CACCCACTGCTTCTGATGCTATCACCCAGATGATTTTAGTA
original cDNA sequence snippet CACCCACTGCTTCTGATGCTGTCACCCAGATGATTTTAGTA
altered cDNA sequence snippet CACCCACTGCTTCTGATGCTATCACCCAGATGATTTTAGTA
wildtype AA sequence MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSDPKSNLIQ QWLSQQSDLG VISKTFQLSS
HPILGDWSIQ VQVNDQTYYQ SFQVSEYVLP KFEVTLQTPL YCSMNSKHLN GTITAKYTYG
KPVKGDVTLT FLPLSFWGKK KNITKTFKIN GSANFSFNDE EMKNVMDSSN GLSEYLDLSS
PGPVEILTTV TESVTGISRN VSTNVFFKQH DYIIEFFDYT TVLKPSLNFT ATVKVTRADG
NQLTLEERRN NVVITVTQRN YTEYWSGSNS GNQKMEAVQK INYTVPQSGT FKIEFPILED
SSELQLKAYF LGSKSSMAVH SLFKSPSKTY IQLKTRDENI KVGSPFELVV SGNKRLKELS
YMVVSRGQLV AVGKQNSTMF SLTPENSWTP KACVIVYYIE DDGEIISDVL KIPVQLVFKN
KIKLYWSKVK AEPSEKVSLR ISVTQPDSIV GIVAVDKSVN LMNASNDITM ENVVHELELY
NTGYYLGMFM NSFAVFQECG LWVLTDANLT KDYIDGVYDN AEYAERFMEE NEGHIVDIHD
FSLGSSPHVR KHFPETWIWL DTNMGYRIYQ EFEVTVPDSI TSWVATGFVI SEDLGLGLTT
TPVELQAFQP FFIFLNLPYS VIRGEEFALE ITIFNYLKDA TEVKVIIEKS DKFDILMTSN
EINATGHQQT LLVPSEDGAT VLFPIRPTHL GEIPITVTAL SPTASDAVTQ MILVKAEGIE
KSYSQSILLD LTDNRLQSTL KTLSFSFPPN TVTGSERVQI TAIGDVLGPS INGLASLIRM
PYGCGEQNMI NFAPNIYILD YLTKKKQLTD NLKEKALSFM RQGYQRELLY QREDGSFSAF
GNYDPSGSTW LSAFVLRCFL EADPYIDIDQ NVLHRTYTWL KGHQKSNGEF WDPGRVIHSE
LQGGNKSPVT LTAYIVTSLL GYRKYQPNID VQESIHFLES EFSRGISDNY TLALITYALS
SVGSPKAKEA LNMLTWRAEQ EGGMQFWVSS ESKLSDSWQP RSLDIEVAAY ALLSHFLQFQ
TSEGIPIMRW LSRQRNSLGG FASTQDTTVA LKALSEFAAL MNTERTNIQV TVTGPSSPSP
VKFLIDTHNR LLLQTAELAV VQPTAVNISA NGFGFAICQL NVVYNVKASG SSRRRRSIQN
QEAFDLDVAV KENKDDLNHV DLNVCTSFSG PGRSGMALME VNLLSGFMVP SEAISLSETV
KKVEYDHGKL NLYLDSVNET QFCVNIPAVR NFKVSNTQDA SVSIVDYYEP RRQAVRSYNS
EVKLSSCDLC SDVQGCRPCE DGASGSHHHS SVIFIFCFKL LYFMELWL*
mutated AA sequence MQGPPLLTAA HLLCVCTAAL AVAPGPRFLV TAPGIIRPGG NVTIGVELLE HCPSQVTVKA
ELLKTASNLT VSVLEAEGVF EKGSFKTLTL PSDPKSNLIQ QWLSQQSDLG VISKTFQLSS
HPILGDWSIQ VQVNDQTYYQ SFQVSEYVLP KFEVTLQTPL YCSMNSKHLN GTITAKYTYG
KPVKGDVTLT FLPLSFWGKK KNITKTFKIN GSANFSFNDE EMKNVMDSSN GLSEYLDLSS
PGPVEILTTV TESVTGISRN VSTNVFFKQH DYIIEFFDYT TVLKPSLNFT ATVKVTRADG
NQLTLEERRN NVVITVTQRN YTEYWSGSNS GNQKMEAVQK INYTVPQSGT FKIEFPILED
SSELQLKAYF LGSKSSMAVH SLFKSPSKTY IQLKTRDENI KVGSPFELVV SGNKRLKELS
YMVVSRGQLV AVGKQNSTMF SLTPENSWTP KACVIVYYIE DDGEIISDVL KIPVQLVFKN
KIKLYWSKVK AEPSEKVSLR ISVTQPDSIV GIVAVDKSVN LMNASNDITM ENVVHELELY
NTGYYLGMFM NSFAVFQECG LWVLTDANLT KDYIDGVYDN AEYAERFMEE NEGHIVDIHD
FSLGSSPHVR KHFPETWIWL DTNMGYRIYQ EFEVTVPDSI TSWVATGFVI SEDLGLGLTT
TPVELQAFQP FFIFLNLPYS VIRGEEFALE ITIFNYLKDA TEVKVIIEKS DKFDILMTSN
EINATGHQQT LLVPSEDGAT VLFPIRPTHL GEIPITVTAL SPTASDAITQ MILVKAEGIE
KSYSQSILLD LTDNRLQSTL KTLSFSFPPN TVTGSERVQI TAIGDVLGPS INGLASLIRM
PYGCGEQNMI NFAPNIYILD YLTKKKQLTD NLKEKALSFM RQGYQRELLY QREDGSFSAF
GNYDPSGSTW LSAFVLRCFL EADPYIDIDQ NVLHRTYTWL KGHQKSNGEF WDPGRVIHSE
LQGGNKSPVT LTAYIVTSLL GYRKYQPNID VQESIHFLES EFSRGISDNY TLALITYALS
SVGSPKAKEA LNMLTWRAEQ EGGMQFWVSS ESKLSDSWQP RSLDIEVAAY ALLSHFLQFQ
TSEGIPIMRW LSRQRNSLGG FASTQDTTVA LKALSEFAAL MNTERTNIQV TVTGPSSPSP
VKFLIDTHNR LLLQTAELAV VQPTAVNISA NGFGFAICQL NVVYNVKASG SSRRRRSIQN
QEAFDLDVAV KENKDDLNHV DLNVCTSFSG PGRSGMALME VNLLSGFMVP SEAISLSETV
KKVEYDHGKL NLYLDSVNET QFCVNIPAVR NFKVSNTQDA SVSIVDYYEP RRQAVRSYNS
EVKLSSCDLC SDVQGCRPCE DGASGSHHHS SVIFIFCFKL LYFMELWL*
speed 1.32 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