Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.99998668020424 (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) chr15:62202482C>TN/A show variant in all transcripts   IGV
HGNC symbol VPS13C
Ensembl transcript ID ENST00000249837
Genbank transcript ID NM_017684
UniProt peptide Q709C8
alteration type single base exchange
alteration region CDS
DNA changes c.8609G>A
cDNA.8708G>A
g.150191G>A
AA changes S2870N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2870
frameshift no
known variant Reference ID: rs10851704
databasehomozygous (T/T)heterozygousallele carriers
1000G68712121899
ExAC18513-425914254
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2550.934
0.8080.976
(flanking)2.7581
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 increased150186wt: 0.4747 / mu: 0.4913 (marginal change - not scored)wt: TAGTGCCTTCCATTTTGGCCAGAAAGTTTGTCAGGCAAACT
mu: TAGTGCCTTCCATTTTGGCCAGAAAATTTGTCAGGCAAACT		 gcca|GAAA
Acc marginally increased150182wt: 0.9295 / mu: 0.9383 (marginal change - not scored)wt: TTTTTAGTGCCTTCCATTTTGGCCAGAAAGTTTGTCAGGCA
mu: TTTTTAGTGCCTTCCATTTTGGCCAGAAAATTTGTCAGGCA		 tttg|GCCA
Acc marginally increased150181wt: 0.9502 / mu: 0.9519 (marginal change - not scored)wt: ATTTTTAGTGCCTTCCATTTTGGCCAGAAAGTTTGTCAGGC
mu: ATTTTTAGTGCCTTCCATTTTGGCCAGAAAATTTGTCAGGC		 tttt|GGCC
Donor increased150194wt: 0.84 / mu: 0.94wt: AAGTTTGTCAGGCAA
mu: AAATTTGTCAGGCAA		 GTTT|gtca
Donor increased150186wt: 0.44 / mu: 0.98wt: TGGCCAGAAAGTTTG
mu: TGGCCAGAAAATTTG		 GCCA|gaaa
distance from splice site 23
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2870ASSECLPFWPESLSGKLCVRVVGC
mutated  all conserved    2870ASSECLPFWPENLSGKLCVRVV
Ptroglodytes  all conserved  ENSPTRG00000007135  2914ASSECLPFWPENLSGKLCVRVVG
Mmulatta  all conserved  ENSMMUG00000001362  2913ASSECLPFWPENLSGKLCVRVVG
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000035284  2908ASSECIPFWPENLSGKLCVRVVG
Ggallus  all conserved  ENSGALG00000003705  2910SPSECLPFWPENSSGELCVRVVG
Trubripes  all conserved  ENSTRUG00000003978  2891SSTECLPFWPENTSGKLCLRV
Drerio  all identical  ENSDARG00000074465  2912SSTECLPFWPESSTEKLCV
Dmelanogaster  not conserved  FBgn0033194  2501EPNEMEPLWPRNDTKNNLVVRV--
Celegans  not conserved  T08G11.1  2398PAETCVGIWPVERKKRKLMCVRYKE
Xtropicalis  all conserved  ENSXETG00000005221  2917WPENISGKLCVRVIG
protein features
start (aa)end (aa)featuredetails 
35383538MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 11133 / 11133
position (AA) of stopcodon in wt / mu AA sequence 3711 / 3711
position of stopcodon in wt / mu cDNA 11232 / 11232
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 100 / 100
chromosome 15
strand -1
last intron/exon boundary 11131
theoretical NMD boundary in CDS 10981
length of CDS 11133
coding sequence (CDS) position 8609
cDNA position
(for ins/del: last normal base / first normal base)		 8708
gDNA position
(for ins/del: last normal base / first normal base)		 150191
chromosomal position
(for ins/del: last normal base / first normal base)		 62202482
original gDNA sequence snippet CCTTCCATTTTGGCCAGAAAGTTTGTCAGGCAAACTTTGTG
altered gDNA sequence snippet CCTTCCATTTTGGCCAGAAAATTTGTCAGGCAAACTTTGTG
original cDNA sequence snippet CCTTCCATTTTGGCCAGAAAGTTTGTCAGGCAAACTTTGTG
altered cDNA sequence snippet CCTTCCATTTTGGCCAGAAAATTTGTCAGGCAAACTTTGTG
wildtype AA sequence MVLESVVADL LNRFLGDYVE NLNKSQLKLG IWGGNVALDN LQIKENALSE LDVPFKVKAG
QIDKLTLKIP WKNLYGEAVV ATLEGLYLLV VPGASIKYDA VKEEKSLQDV KQKELSRIEE
ALQKAAEKDK PKEAKKDTFV EKLATQVIKN VQVKITDIHI KYEDDVTDPK RPLSFGVTLG
ELSLLTANEH WTPCILNEAD KIIYKLIRLD SLSAYWNVNC SMSYQRSREQ ILDQLKNEIL
TSGNIPPNYQ YIFQPISASA KLYMNPYAES ELKTPKLDCN IEIQNIAIEL TKPQYLSMID
LLESVDYMVR NAPYRKYKPY LPLHTNGRRW WKYAIDSVLE VHIRRYTQMW SWSNIKKHRQ
LLKSYKIAYK NKLTQSKVSE EIQKEIQDLE KTLDVFNIIL ARQQAQVEVI RSGQKLRKKS
ADTGEKRGGW FSGLWGKKES KKKDEESLIP ETIDDLMTPE EKDKLFTAIG YSESTHNLTL
PKQYVAHIMT LKLVSTSVTI RENKNIPEIL KIQIIGLGTQ VSQRPGAQAL KVEAKLEHWY
ITGLRQQDIV PSLVASIGDT TSSLLKIKFE TNPEDSPADQ TLIVQSQPVE VIYDAKTVNA
VVEFFQSNKG LDLEQITSAT LMKLEEIKER TATGLTHIIE TRKVLDLRIN LKPSYLVVPQ
TGFHHEKSDL LILDFGTFQL NSKDQGLQKT TNSSLEEIMD KAYDKFDVEI KNVQLLFARA
EETWKKCRFQ HPSTMHILQP MDIHVELAKA MVEKDIRMAR FKVSGGLPLM HVRISDQKMK
DVLYLMNSIP LPQKSSAQSP ERQVSSIPII SGGTKGLLGT SLLLDTVESE SDDEYFDAED
GEPQTCKSMK GSELKKAAEV PNEELINLLL KFEIKEVILE FTKQQKEEDT ILVFNVTQLG
TEATMRTFDL TVVSYLKKIS LDYHEIEGSK RKPLHLISSS DKPGLDLLKV EYIKADKNGP
SFQTAFGKTE QTVKVAFSSL NLLLQTQALV ASINYLTTII PSDDQSISVA KEVQISTEKQ
QKNSTLPKAI VSSRDSDIID FRLFAKLNAF CVIVCNEKNN IAEIKIQGLD SSLSLQSRKQ
SLFARLENII VTDVDPKTVH KKAVSIMGNE VFRFNLDLYP DATEGDLYTD MSKVDGVLSL
NVGCIQIVYL HKFLMSLLNF LNNFQTAKES LSAATAQAAE RAATSVKDLA QRSFRVSINI
DLKAPVIVIP QSSISTNAVV VDLGLIRVHN QFSLVSDEDY LNPPVIDRMD VQLTKLTLYR
TVIQPGIYHP DIQLLHPINL EFLVNRNLAA SWYHKVPVVE IKGHLDSMNV SLNQEDLNLL
FRILTENLCE GTEDLDKVKP RVQETGEIKE PLEISISQDV HDSKNTLTTG VEEIRSVDII
NMLLNFEIKE VVVTLMKKSE KKGRPLHELN VLQLGMEAKV KTYDMTAKAY LKKISMQCFD
FTDSKGEPLH IINSSNVTDE PLLKMLLTKA DSDGPEFKTI HDSTKQRLKV SFASLDLVLH
LEALLSFMDF LSSAAPFSEP SSSEKESELK PLVGESRSIA VKAVSSNISQ KDVFDLKITA
ELNAFNVFVC DQKCNIADIK IHGMDASISV KPKQTDVFAR LKDIIVMNVD LQSIHKKAVS
ILGDEVFRFQ LTLYPDATEG EAYADMSKVD GKLSFKVGCI QIVYVHKFFM SLLNFLNNFQ
TAKEALSTAT VQAAERAASS MKDLAQKSFR LLMDINLKAP VIIIPQSSVS PNAVIADLGL
IRVENKFSLV PMEHYSLPPV IDKMNIELTQ LKLSRTILQA SLPQNDIEIL KPVNMLLSIQ
RNLAAAWYVQ IPGMEIKGKL KPMQVALSED DLTVLMKILL ENLGEASSQP SPTQSVQETV
RVRKVDVSSV PDHLKEQEDW TDSKLSMNQI VSLQFDFHFE SLSIILYNND INQESGVAFH
NDSFQLGELR LHLMASSGKM FKDGSMNVSV KLKTCTLDDL REGIERATSR MIDRKNDQDN
NSSMIDISYK QDKNGSQIDA VLDKLYVCAS VEFLMTVADF FIKAVPQSPE NVAKETQILP
RQTATGKVKI EKDDSVRPNM TLKAMITDPE VVFVASLTKA DAPALTASFQ CNLSLSTSKL
EQMMEASVRD LKVLACPFLR EKRGKNITTV LQPCSLFMEK CTWASGKQNI NIMVKEFIIK
ISPIILNTVL TIMAALSPKT KEDGSKDTSK EMENLWGIKS INDYNTWFLG VDTATEITES
FKGIEHSLIE ENCGVVVESI QVTLECGLGH RTVPLLLAES KFSGNIKNWT SLMAAVADVT
LQVHYYNEIH AVWEPLIERV EGKRQWNLRL DVKKNPVQDK SLLPGDDFIP EPQMAIHISS
GNTMNITISK SCLNVFNNLA KGFSEGTAST FDYSLKDRAP FTVKNAVGVP IKVKPNCNLR
VMGFPEKSDI FDVDAGQNLE LEYASMVPSS QGNLSILSRQ ESSFFTLTIV PHGYTEVANI
PVARPGRRLY NVRNPNASHS DSVLVQIDAT EGNKVITLRS PLQIKNHFSI AFIIYKFVKN
VKLLERIGIA RPEEEFHVPL DSYRCQLFIQ PAGILEHQYK ESTTYISWKE ELHRSREVRC
MLQCPSVEVS FLPLIVNTVA LPDELSYICT HGEDWDVAYI IHLYPSLTLR NLLPYSLRYL
LEGTAETHEL AEGSTADVLH SRISGEIMEL VLVKYQGKNW NGHFRIRDTL PEFFPVCFSS
DSTEVTTVDL SVHVRRIGSR MVLSVFSPYW LINKTTRVLQ YRSEDIHVKH PADFRDIILF
SFKKKNIFTK NKVQLKISTS AWSSSFSLDT VGSYGCVKCP ANNMEYLVGV SIKMSSFNLS
RIVTLTPFCT IANKSSLELE VGEIASDGSM PTNKWNYIAS SECLPFWPES LSGKLCVRVV
GCEGSSKPFF YNRQDNGTLL SLEDLNGGIL VDVNTAEHST VITFSDYHEG SAPALIMNHT
PWDILTYKQS GSPEEMVLLP RQARLFAWAD PTGTRKLTWT YAANVGEHDL LKDGCGQFPY
DANIQIHWVS FLDGRQRVLL FTDDVALVSK ALQAEEMEQA DYEITLSLHS LGLSLVNNES
KQEVSYIGIT SSGVVWEVKP KQKWKPFSQK QIILLEQSYQ KHQISRDHGW IKLDNNFEVN
FDKDPMEMRL PIRSPIKRDF LSGIQIEFKQ SSHQRSLRAR LYWLQVDNQL PGAMFPVVFH
PVAPPKSIAL DSEPKPFIDV SVITRFNEYS KVLQFKYFMV LIQEMALKID QGFLGAIIAL
FTPTTDPEAE RRRTKLIQQD IDALNAELME TSMTDMSILS FFEHFHISPV KLHLSLSLGS
GGEESDKEKQ EMFAVHSVNL LLKSIGATLT DVDDLIFKLA YYEIRYQFYK RDQLIWSVVR
HYSEQFLKQM YVLVLGLDVL GNPFGLIRGL SEGVEALFYE PFQGAVQGPE EFAEGLVIGV
RSLFGHTVGG AAGVVSRITG SVGKGLAAIT MDKEYQQKRR EELSRQPRDF GDSLARGGKG
FLRGVVGGVT GIITKPVEGA KKEGAAGFFK GIGKGLVGAV ARPTGGIVDM ASSTFQGIQR
AAESTEEVSS LRPPRLIHED GIIRPYDRQE SEGSDLLENH IKKLEGETYR YHCAIPGSKK
TILMVTNRRV LCIKEVEILG LMCVDWQCPF EDFVFPPSVS ENVLKISVKE QGLFHKKDSA
NQGCVRKVYL KDTATAERAC NAIEDAQSTR QQQKLMKQSS VRLLRPQLPS *
mutated AA sequence MVLESVVADL LNRFLGDYVE NLNKSQLKLG IWGGNVALDN LQIKENALSE LDVPFKVKAG
QIDKLTLKIP WKNLYGEAVV ATLEGLYLLV VPGASIKYDA VKEEKSLQDV KQKELSRIEE
ALQKAAEKDK PKEAKKDTFV EKLATQVIKN VQVKITDIHI KYEDDVTDPK RPLSFGVTLG
ELSLLTANEH WTPCILNEAD KIIYKLIRLD SLSAYWNVNC SMSYQRSREQ ILDQLKNEIL
TSGNIPPNYQ YIFQPISASA KLYMNPYAES ELKTPKLDCN IEIQNIAIEL TKPQYLSMID
LLESVDYMVR NAPYRKYKPY LPLHTNGRRW WKYAIDSVLE VHIRRYTQMW SWSNIKKHRQ
LLKSYKIAYK NKLTQSKVSE EIQKEIQDLE KTLDVFNIIL ARQQAQVEVI RSGQKLRKKS
ADTGEKRGGW FSGLWGKKES KKKDEESLIP ETIDDLMTPE EKDKLFTAIG YSESTHNLTL
PKQYVAHIMT LKLVSTSVTI RENKNIPEIL KIQIIGLGTQ VSQRPGAQAL KVEAKLEHWY
ITGLRQQDIV PSLVASIGDT TSSLLKIKFE TNPEDSPADQ TLIVQSQPVE VIYDAKTVNA
VVEFFQSNKG LDLEQITSAT LMKLEEIKER TATGLTHIIE TRKVLDLRIN LKPSYLVVPQ
TGFHHEKSDL LILDFGTFQL NSKDQGLQKT TNSSLEEIMD KAYDKFDVEI KNVQLLFARA
EETWKKCRFQ HPSTMHILQP MDIHVELAKA MVEKDIRMAR FKVSGGLPLM HVRISDQKMK
DVLYLMNSIP LPQKSSAQSP ERQVSSIPII SGGTKGLLGT SLLLDTVESE SDDEYFDAED
GEPQTCKSMK GSELKKAAEV PNEELINLLL KFEIKEVILE FTKQQKEEDT ILVFNVTQLG
TEATMRTFDL TVVSYLKKIS LDYHEIEGSK RKPLHLISSS DKPGLDLLKV EYIKADKNGP
SFQTAFGKTE QTVKVAFSSL NLLLQTQALV ASINYLTTII PSDDQSISVA KEVQISTEKQ
QKNSTLPKAI VSSRDSDIID FRLFAKLNAF CVIVCNEKNN IAEIKIQGLD SSLSLQSRKQ
SLFARLENII VTDVDPKTVH KKAVSIMGNE VFRFNLDLYP DATEGDLYTD MSKVDGVLSL
NVGCIQIVYL HKFLMSLLNF LNNFQTAKES LSAATAQAAE RAATSVKDLA QRSFRVSINI
DLKAPVIVIP QSSISTNAVV VDLGLIRVHN QFSLVSDEDY LNPPVIDRMD VQLTKLTLYR
TVIQPGIYHP DIQLLHPINL EFLVNRNLAA SWYHKVPVVE IKGHLDSMNV SLNQEDLNLL
FRILTENLCE GTEDLDKVKP RVQETGEIKE PLEISISQDV HDSKNTLTTG VEEIRSVDII
NMLLNFEIKE VVVTLMKKSE KKGRPLHELN VLQLGMEAKV KTYDMTAKAY LKKISMQCFD
FTDSKGEPLH IINSSNVTDE PLLKMLLTKA DSDGPEFKTI HDSTKQRLKV SFASLDLVLH
LEALLSFMDF LSSAAPFSEP SSSEKESELK PLVGESRSIA VKAVSSNISQ KDVFDLKITA
ELNAFNVFVC DQKCNIADIK IHGMDASISV KPKQTDVFAR LKDIIVMNVD LQSIHKKAVS
ILGDEVFRFQ LTLYPDATEG EAYADMSKVD GKLSFKVGCI QIVYVHKFFM SLLNFLNNFQ
TAKEALSTAT VQAAERAASS MKDLAQKSFR LLMDINLKAP VIIIPQSSVS PNAVIADLGL
IRVENKFSLV PMEHYSLPPV IDKMNIELTQ LKLSRTILQA SLPQNDIEIL KPVNMLLSIQ
RNLAAAWYVQ IPGMEIKGKL KPMQVALSED DLTVLMKILL ENLGEASSQP SPTQSVQETV
RVRKVDVSSV PDHLKEQEDW TDSKLSMNQI VSLQFDFHFE SLSIILYNND INQESGVAFH
NDSFQLGELR LHLMASSGKM FKDGSMNVSV KLKTCTLDDL REGIERATSR MIDRKNDQDN
NSSMIDISYK QDKNGSQIDA VLDKLYVCAS VEFLMTVADF FIKAVPQSPE NVAKETQILP
RQTATGKVKI EKDDSVRPNM TLKAMITDPE VVFVASLTKA DAPALTASFQ CNLSLSTSKL
EQMMEASVRD LKVLACPFLR EKRGKNITTV LQPCSLFMEK CTWASGKQNI NIMVKEFIIK
ISPIILNTVL TIMAALSPKT KEDGSKDTSK EMENLWGIKS INDYNTWFLG VDTATEITES
FKGIEHSLIE ENCGVVVESI QVTLECGLGH RTVPLLLAES KFSGNIKNWT SLMAAVADVT
LQVHYYNEIH AVWEPLIERV EGKRQWNLRL DVKKNPVQDK SLLPGDDFIP EPQMAIHISS
GNTMNITISK SCLNVFNNLA KGFSEGTAST FDYSLKDRAP FTVKNAVGVP IKVKPNCNLR
VMGFPEKSDI FDVDAGQNLE LEYASMVPSS QGNLSILSRQ ESSFFTLTIV PHGYTEVANI
PVARPGRRLY NVRNPNASHS DSVLVQIDAT EGNKVITLRS PLQIKNHFSI AFIIYKFVKN
VKLLERIGIA RPEEEFHVPL DSYRCQLFIQ PAGILEHQYK ESTTYISWKE ELHRSREVRC
MLQCPSVEVS FLPLIVNTVA LPDELSYICT HGEDWDVAYI IHLYPSLTLR NLLPYSLRYL
LEGTAETHEL AEGSTADVLH SRISGEIMEL VLVKYQGKNW NGHFRIRDTL PEFFPVCFSS
DSTEVTTVDL SVHVRRIGSR MVLSVFSPYW LINKTTRVLQ YRSEDIHVKH PADFRDIILF
SFKKKNIFTK NKVQLKISTS AWSSSFSLDT VGSYGCVKCP ANNMEYLVGV SIKMSSFNLS
RIVTLTPFCT IANKSSLELE VGEIASDGSM PTNKWNYIAS SECLPFWPEN LSGKLCVRVV
GCEGSSKPFF YNRQDNGTLL SLEDLNGGIL VDVNTAEHST VITFSDYHEG SAPALIMNHT
PWDILTYKQS GSPEEMVLLP RQARLFAWAD PTGTRKLTWT YAANVGEHDL LKDGCGQFPY
DANIQIHWVS FLDGRQRVLL FTDDVALVSK ALQAEEMEQA DYEITLSLHS LGLSLVNNES
KQEVSYIGIT SSGVVWEVKP KQKWKPFSQK QIILLEQSYQ KHQISRDHGW IKLDNNFEVN
FDKDPMEMRL PIRSPIKRDF LSGIQIEFKQ SSHQRSLRAR LYWLQVDNQL PGAMFPVVFH
PVAPPKSIAL DSEPKPFIDV SVITRFNEYS KVLQFKYFMV LIQEMALKID QGFLGAIIAL
FTPTTDPEAE RRRTKLIQQD IDALNAELME TSMTDMSILS FFEHFHISPV KLHLSLSLGS
GGEESDKEKQ EMFAVHSVNL LLKSIGATLT DVDDLIFKLA YYEIRYQFYK RDQLIWSVVR
HYSEQFLKQM YVLVLGLDVL GNPFGLIRGL SEGVEALFYE PFQGAVQGPE EFAEGLVIGV
RSLFGHTVGG AAGVVSRITG SVGKGLAAIT MDKEYQQKRR EELSRQPRDF GDSLARGGKG
FLRGVVGGVT GIITKPVEGA KKEGAAGFFK GIGKGLVGAV ARPTGGIVDM ASSTFQGIQR
AAESTEEVSS LRPPRLIHED GIIRPYDRQE SEGSDLLENH IKKLEGETYR YHCAIPGSKK
TILMVTNRRV LCIKEVEILG LMCVDWQCPF EDFVFPPSVS ENVLKISVKE QGLFHKKDSA
NQGCVRKVYL KDTATAERAC NAIEDAQSTR QQQKLMKQSS VRLLRPQLPS *
speed 1.07 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