Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999998 (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) chr2:238244963A>GN/A show variant in all transcripts   IGV
HGNC symbol COL6A3
Ensembl transcript ID ENST00000347401
Genbank transcript ID N/A
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8177T>C
cDNA.8462T>C
g.78056T>C
AA changes M2726T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2726
frameshift no
known variant Reference ID: rs6728818
databasehomozygous (G/G)heterozygousallele carriers
1000G107010482118
ExAC25150-175337617
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.8770
0.1560
(flanking)-1.4540
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 increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
Donor marginally increased78048wt: 0.8509 / mu: 0.8900 (marginal change - not scored)wt: GTGGCCACAAAGATG
mu: GTGGCCACAAAGACG		 GGCC|acaa
Donor marginally increased78053wt: 0.2851 / mu: 0.3345 (marginal change - not scored)wt: CACAAAGATGGCCAC
mu: CACAAAGACGGCCAC		 CAAA|gatg
Donor gained780570.52mu: AAGACGGCCACTGTT GACG|gcca
distance from splice site 186
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      2726KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2726KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATV
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2413PAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2906TTTASTTAQTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502VNTHNVNGHVASTYKGIVPTK
Dmelanogaster  no homologue    
Celegans  no alignment  C18H7.1  n/a
Xtropicalis  no alignment  ENSXETG00000031229  n/a
protein features
start (aa)end (aa)featuredetails 
23763177REGIONNonhelical region.lost
26192815DOMAINVWFA 12.lost
28612861CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
28632898COMPBIASThr-rich.might get lost (downstream of altered splice site)
29082983COMPBIASAla-rich.might get lost (downstream of altered splice site)
29562956CONFLICTMissing (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
29883076DOMAINFibronectin type-III.might get lost (downstream of altered splice site)
29922992CONFLICTS -> L (in Ref. 1; CAA36267).might get lost (downstream of altered splice site)
30373037CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
31103113HELIXmight get lost (downstream of altered splice site)
31123112DISULFIDBy similarity.might get lost (downstream of altered splice site)
31123162DOMAINBPTI/Kunitz inhibitor.might get lost (downstream of altered splice site)
31203122STRANDmight get lost (downstream of altered splice site)
31213121DISULFIDBy similarity.might get lost (downstream of altered splice site)
31223123SITEReactive bond.might get lost (downstream of altered splice site)
31253131STRANDmight get lost (downstream of altered splice site)
31323135TURNmight get lost (downstream of altered splice site)
31363142STRANDmight get lost (downstream of altered splice site)
31373137DISULFIDBy similarity.might get lost (downstream of altered splice site)
31443146STRANDmight get lost (downstream of altered splice site)
31453145DISULFIDBy similarity.might get lost (downstream of altered splice site)
31523154STRANDmight get lost (downstream of altered splice site)
31553162HELIXmight get lost (downstream of altered splice site)
31583158DISULFIDBy similarity.might get lost (downstream of altered splice site)
31623162DISULFIDBy similarity.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 8931 / 8931
position (AA) of stopcodon in wt / mu AA sequence 2977 / 2977
position of stopcodon in wt / mu cDNA 9216 / 9216
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 286 / 286
chromosome 2
strand -1
last intron/exon boundary 9176
theoretical NMD boundary in CDS 8840
length of CDS 8931
coding sequence (CDS) position 8177
cDNA position
(for ins/del: last normal base / first normal base)		 8462
gDNA position
(for ins/del: last normal base / first normal base)		 78056
chromosomal position
(for ins/del: last normal base / first normal base)		 238244963
original gDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered gDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
original cDNA sequence snippet CAAGCCTGTGGCCACAAAGATGGCCACTGTTAGACCCCCAG
altered cDNA sequence snippet CAAGCCTGTGGCCACAAAGACGGCCACTGTTAGACCCCCAG
wildtype AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITVIEV
NKRDIVFLVD GSSALGLANF NAIRDFIAKV IQRLEIGQDL IQVAVAQYAD TVRPEFYFNT
HPTKREVITA VRKMKPLDGS ALYTGSALDF VRNNLFTSSA GYRAAEGIPK LLVLITGGKS
LDEISQPAQE LKRSSIMAFA IGNKGADQAE LEEIAFDSSL VFIPAEFRAA PLQGMLPGLL
APLRTLSGTP EVHSNKRDII FLLDGSANVG KTNFPYVRDF VMNLVNSLDI GNDNIRVGLV
QFSDTPVTEF SLNTYQTKSD ILGHLRQLQL QGGSGLNTGS ALSYVYANHF TEAGGSRIRE
HVPQLLLLLT AGQSEDSYLQ AANALTRAGI LTFCVGASQA NKAELEQIAF NPSLVYLMDD
FSSLPALPQQ LIQPLTTYVS GGVEEVPLAQ PESKRDILFL FDGSANLVGQ FPVVRDFLYK
IIDELNVKPE GTRIAVAQYS DDVKVESRFD EHQSKPEILN LVKRMKIKTG KALNLGYALD
YAQRYIFVKS AGSRIEDGVL QFLVLLVAGR SSDRVDGPAS NLKQSGVVPF IFQAKNADPA
ELEQIVLSPA FILAAESLPK IGDLHPQIVN LLKSVHNGAP APVSGEKDVV FLLDGSEGVR
SGFPLLKEFV QRVVESLDVG QDRVRVAVVQ YSDRTRPEFY LNSYMNKQDV VNAVRQLTLL
GGPTPNTGAA LEFVLRNILV SSAGSRITEG VPQLLIVLTA DRSGDDVRNP SVVVKRGGAV
PIGIGIGNAD ITEMQTISFI PDFAVAIPTF RQLGTVQQVI SERVTQLTRE ELSRLQPVLQ
PLPSPGVGGK RDVVFLIDGS QSAGPEFQYV RTLIERLVDY LDVGFDTTRV AVIQFSDDPK
VEFLLNAHSS KDEVQNAVQR LRPKGGRQIN VGNALEYVSR NIFKRPLGSR IEEGVPQFLV
LISSGKSDDE VDDPAVELKQ FGVAPFTIAR NADQEELVKI SLSPEYVFSV STFRELPSLE
QKLLTPITTL TSEQIQKLLA STRYPPPAVE SDAADIVFLI DSSEGVRPDG FAHIRDFVSR
IVRRLNIGPS KVRVGVVQFS NDVFPEFYLK TYRSQAPVLD AIRRLRLRGG SPLNTGKALE
FVARNLFVKS AGSRIEDGVP QHLVLVLGGK SQDDVSRFAQ VIRSSGIVSL GVGDRNIDRT
ELQTITNDPR LVFTVREFRE LPNIEERIMN SFGPSAATPA PPGVDTPPPS RPEKKKADIV
FLLDGSINFR RDSFQEVLRF VSEIVDTVYE DGDSIQVGLV QYNSDPTDEF FLKDFSTKRQ
IIDAINKVVY KGGRHANTKV GLEHLRVNHF VPEAGSRLDQ RVPQIAFVIT GGKSVEDAQD
VSLALTQRGV KVFAVGVRNI DSEEVGKIAS NSATAFRVGN VQELSELSEQ VLETLHDAMH
ETLCPGVTDA AKACNLDVIL GFDGSRDQNV FVAQKGFESK VDAILNRISQ MHRVSCSGGR
SPTVRVSVVA NTPSGPVEAF DFDEYQPEML EKFRNMRSQH PYVLTEDTLK VYLNKFRQSS
PDSVKVVIHF TDGADGDLAD LHRASENLRQ EGVRALILVG LERVVNLERL MHLEFGRGFM
YDRPLRLNLL DLDYELAEQL DNIAEKACCG VPCKCSGQRG DRGPIGSIGP KGIPGEDGYR
GYPGDEGGPG ERGPPGVNGT QGFQGCPGQR GVKGSRGFPG EKGEVGEIGL DGLDGEDGDK
GLPGSSGEKG NPGRRGDKGP RGEKGERGDV GIRGDPGNPG QDSQERGPKG ETGDLGPMGV
PGRDGVPGGP GETGKNGGFG RRGPPGAKGN KGGPGQPGFE GEQGTRGAQG PAGPAGPPGL
IGEQGISGPR GSGGAAGAPG ERGRTGPLGR KGEPGEPGPK GGIGNRGPRG ETGDDGRDGV
GSEGRRGKKG ERGFPGYPGP KGNPGEPGLN GTTGPKGIRG RRGNSGPPGI VGQKGDPGYP
GPAGPKGNRG DSIDQCALIQ SIKDKCPCCY GPLECPVFPT ELAFALDTSE GVNQDTFGRM
RDVVLSIVND LTIAESNCPR GARVAVVTYN NEVTTEIRFA DSKRKSVLLD KIKNLQVALT
SKQQSLETAM SFVARNTFKR VRNGFLMRKV AVFFSNTPTR ASPQLREAVL KLSDAGITPL
FLTRQEDRQL INALQINNTA VGHALVLPAG RDLTDFLENV LTCHVCLDIC NIDPSCGFGS
WRPSFRDRRA AGSDVDIDMA FILDSAETTT LFQFNEMKKY IAYLVRQLDM SPDPKASQHF
ARVAVVQHAP SESVDNASMP PVKVEFSLTD YGSKEKLVDF LSRGMTQLQG TRALGSAIEY
TIENVFESAP NPRDLKIVVL MLTGEVPEQQ LEEAQRVILQ AKCKGYFFVV LGIGRKVNIK
EVYTFASEPN DVFFKLVDKS TELNEEPLMR FGRLLPSFVS SENAFYLSPD IRKQCDWFQG
DQPTKNLVKF GHKQVNVPNN VTSSPTSNPV TTTKPVTTTK PVTTTTKPVT TTTKPVTIIN
QPSVKPAAAK PAPAKPVAAK PVATKMATVR PPVAVKPATA AKPVAAKPAA VRPPAAAAAK
PVATKPEVPR PQAAKPAATK PATTKPMVKM SREVQVFEIT ENSAKLHWER AEPPGPYFYD
LTVTSAHDQS LVLKQNLTVT DRVIGGLLAG QTYHVAVVCY LRSQVRATYH GSFSTKKSQP
PPPQPARSAS SSTINLMVST EPLALTETDI CKLPKDEGTC RDFILKWYYD PNTKSCARFW
YGGCGGNENK FGSQKECEKV CAPVLAKPGV ISVMGT*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA DVKNGAAADI IFLVDSSWTI GEEHFQLVRE
FLYDVVKSLA VGENDFHFAL VQFNGNPHTE FLLNTYRTKQ EVLSHISNMS YIGGTNQTGK
GLEYIMQSHL TKAAGSRAGD GVPQVIVVLT DGHSKDGLAL PSAELKSADV NVFAIGVEDA
DEGALKEIAS EPLNMHMFNL ENFTSLHDIV GNLVSCVHSS VSPERAGDTE TLKDITVIEV
NKRDIVFLVD GSSALGLANF NAIRDFIAKV IQRLEIGQDL IQVAVAQYAD TVRPEFYFNT
HPTKREVITA VRKMKPLDGS ALYTGSALDF VRNNLFTSSA GYRAAEGIPK LLVLITGGKS
LDEISQPAQE LKRSSIMAFA IGNKGADQAE LEEIAFDSSL VFIPAEFRAA PLQGMLPGLL
APLRTLSGTP EVHSNKRDII FLLDGSANVG KTNFPYVRDF VMNLVNSLDI GNDNIRVGLV
QFSDTPVTEF SLNTYQTKSD ILGHLRQLQL QGGSGLNTGS ALSYVYANHF TEAGGSRIRE
HVPQLLLLLT AGQSEDSYLQ AANALTRAGI LTFCVGASQA NKAELEQIAF NPSLVYLMDD
FSSLPALPQQ LIQPLTTYVS GGVEEVPLAQ PESKRDILFL FDGSANLVGQ FPVVRDFLYK
IIDELNVKPE GTRIAVAQYS DDVKVESRFD EHQSKPEILN LVKRMKIKTG KALNLGYALD
YAQRYIFVKS AGSRIEDGVL QFLVLLVAGR SSDRVDGPAS NLKQSGVVPF IFQAKNADPA
ELEQIVLSPA FILAAESLPK IGDLHPQIVN LLKSVHNGAP APVSGEKDVV FLLDGSEGVR
SGFPLLKEFV QRVVESLDVG QDRVRVAVVQ YSDRTRPEFY LNSYMNKQDV VNAVRQLTLL
GGPTPNTGAA LEFVLRNILV SSAGSRITEG VPQLLIVLTA DRSGDDVRNP SVVVKRGGAV
PIGIGIGNAD ITEMQTISFI PDFAVAIPTF RQLGTVQQVI SERVTQLTRE ELSRLQPVLQ
PLPSPGVGGK RDVVFLIDGS QSAGPEFQYV RTLIERLVDY LDVGFDTTRV AVIQFSDDPK
VEFLLNAHSS KDEVQNAVQR LRPKGGRQIN VGNALEYVSR NIFKRPLGSR IEEGVPQFLV
LISSGKSDDE VDDPAVELKQ FGVAPFTIAR NADQEELVKI SLSPEYVFSV STFRELPSLE
QKLLTPITTL TSEQIQKLLA STRYPPPAVE SDAADIVFLI DSSEGVRPDG FAHIRDFVSR
IVRRLNIGPS KVRVGVVQFS NDVFPEFYLK TYRSQAPVLD AIRRLRLRGG SPLNTGKALE
FVARNLFVKS AGSRIEDGVP QHLVLVLGGK SQDDVSRFAQ VIRSSGIVSL GVGDRNIDRT
ELQTITNDPR LVFTVREFRE LPNIEERIMN SFGPSAATPA PPGVDTPPPS RPEKKKADIV
FLLDGSINFR RDSFQEVLRF VSEIVDTVYE DGDSIQVGLV QYNSDPTDEF FLKDFSTKRQ
IIDAINKVVY KGGRHANTKV GLEHLRVNHF VPEAGSRLDQ RVPQIAFVIT GGKSVEDAQD
VSLALTQRGV KVFAVGVRNI DSEEVGKIAS NSATAFRVGN VQELSELSEQ VLETLHDAMH
ETLCPGVTDA AKACNLDVIL GFDGSRDQNV FVAQKGFESK VDAILNRISQ MHRVSCSGGR
SPTVRVSVVA NTPSGPVEAF DFDEYQPEML EKFRNMRSQH PYVLTEDTLK VYLNKFRQSS
PDSVKVVIHF TDGADGDLAD LHRASENLRQ EGVRALILVG LERVVNLERL MHLEFGRGFM
YDRPLRLNLL DLDYELAEQL DNIAEKACCG VPCKCSGQRG DRGPIGSIGP KGIPGEDGYR
GYPGDEGGPG ERGPPGVNGT QGFQGCPGQR GVKGSRGFPG EKGEVGEIGL DGLDGEDGDK
GLPGSSGEKG NPGRRGDKGP RGEKGERGDV GIRGDPGNPG QDSQERGPKG ETGDLGPMGV
PGRDGVPGGP GETGKNGGFG RRGPPGAKGN KGGPGQPGFE GEQGTRGAQG PAGPAGPPGL
IGEQGISGPR GSGGAAGAPG ERGRTGPLGR KGEPGEPGPK GGIGNRGPRG ETGDDGRDGV
GSEGRRGKKG ERGFPGYPGP KGNPGEPGLN GTTGPKGIRG RRGNSGPPGI VGQKGDPGYP
GPAGPKGNRG DSIDQCALIQ SIKDKCPCCY GPLECPVFPT ELAFALDTSE GVNQDTFGRM
RDVVLSIVND LTIAESNCPR GARVAVVTYN NEVTTEIRFA DSKRKSVLLD KIKNLQVALT
SKQQSLETAM SFVARNTFKR VRNGFLMRKV AVFFSNTPTR ASPQLREAVL KLSDAGITPL
FLTRQEDRQL INALQINNTA VGHALVLPAG RDLTDFLENV LTCHVCLDIC NIDPSCGFGS
WRPSFRDRRA AGSDVDIDMA FILDSAETTT LFQFNEMKKY IAYLVRQLDM SPDPKASQHF
ARVAVVQHAP SESVDNASMP PVKVEFSLTD YGSKEKLVDF LSRGMTQLQG TRALGSAIEY
TIENVFESAP NPRDLKIVVL MLTGEVPEQQ LEEAQRVILQ AKCKGYFFVV LGIGRKVNIK
EVYTFASEPN DVFFKLVDKS TELNEEPLMR FGRLLPSFVS SENAFYLSPD IRKQCDWFQG
DQPTKNLVKF GHKQVNVPNN VTSSPTSNPV TTTKPVTTTK PVTTTTKPVT TTTKPVTIIN
QPSVKPAAAK PAPAKPVAAK PVATKTATVR PPVAVKPATA AKPVAAKPAA VRPPAAAAAK
PVATKPEVPR PQAAKPAATK PATTKPMVKM SREVQVFEIT ENSAKLHWER AEPPGPYFYD
LTVTSAHDQS LVLKQNLTVT DRVIGGLLAG QTYHVAVVCY LRSQVRATYH GSFSTKKSQP
PPPQPARSAS SSTINLMVST EPLALTETDI CKLPKDEGTC RDFILKWYYD PNTKSCARFW
YGGCGGNENK FGSQKECEKV CAPVLAKPGV ISVMGT*
speed 0.54 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