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 ENST00000409809
Genbank transcript ID N/A
UniProt peptide P12111
alteration type single base exchange
alteration region CDS
DNA changes c.8162T>C
cDNA.8162T>C
g.78056T>C
AA changes M2721T Score: 81 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 2721
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 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 marginally increased78051wt: 0.8907 / mu: 0.9485 (marginal change - not scored)wt: GCCACAAAGATGGCC
mu: GCCACAAAGACGGCC		 CACA|aaga
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      2721KPVAAKPVATKMATVRPPVAVKPA
mutated  not conserved    2721KPVAAKPVATKTATVRPPVAVKP
Ptroglodytes  not conserved  ENSPTRG00000013074  2927KPVAAKPVATKTATVRPPVAVRP
Mmulatta  not conserved  ENSMMUG00000014049  2714KPVAAKPVATKTATVRPPVAVKP
Fcatus  no alignment  ENSFCAG00000012720  n/a
Mmusculus  not conserved  ENSMUSG00000048126  2413PAQPAAAQPMPAQPVLTKSAAVKPASANKPVAAKPVATNTATATARP
Ggallus  not conserved  ENSGALG00000003923  2906QTRATERP------
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000077139  3502GHVASTYKGIVPTK
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 8916 / 8916
position (AA) of stopcodon in wt / mu AA sequence 2972 / 2972
position of stopcodon in wt / mu cDNA 8916 / 8916
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 1 / 1
chromosome 2
strand -1
last intron/exon boundary 8876
theoretical NMD boundary in CDS 8825
length of CDS 8916
coding sequence (CDS) position 8162
cDNA position
(for ins/del: last normal base / first normal base)		 8162
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 AQDSADIIFL IDGSNNTGSV NFAVILDFLV
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL
NVKPEGTRIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT
PITTLTSEQI QKLLASTRYP PPAVESDAAD IVFLIDSSEG VRPDGFAHIR DFVSRIVRRL
NIGPSKVRVG VVQFSNDVFP EFYLKTYRSQ APVLDAIRRL RLRGGSPLNT GKALEFVARN
LFVKSAGSRI EDGVPQHLVL VLGGKSQDDV SRFAQVIRSS GIVSLGVGDR NIDRTELQTI
TNDPRLVFTV REFRELPNIE ERIMNSFGPS AATPAPPGVD TPPPSRPEKK KADIVFLLDG
SINFRRDSFQ EVLRFVSEIV DTVYEDGDSI QVGLVQYNSD PTDEFFLKDF STKRQIIDAI
NKVVYKGGRH ANTKVGLEHL RVNHFVPEAG SRLDQRVPQI AFVITGGKSV EDAQDVSLAL
TQRGVKVFAV GVRNIDSEEV GKIASNSATA FRVGNVQELS ELSEQVLETL HDAMHETLCP
GVTDAAKACN LDVILGFDGS RDQNVFVAQK GFESKVDAIL NRISQMHRVS CSGGRSPTVR
VSVVANTPSG PVEAFDFDEY QPEMLEKFRN MRSQHPYVLT EDTLKVYLNK FRQSSPDSVK
VVIHFTDGAD GDLADLHRAS ENLRQEGVRA LILVGLERVV NLERLMHLEF GRGFMYDRPL
RLNLLDLDYE LAEQLDNIAE KACCGVPCKC SGQRGDRGPI GSIGPKGIPG EDGYRGYPGD
EGGPGERGPP GVNGTQGFQG CPGQRGVKGS RGFPGEKGEV GEIGLDGLDG EDGDKGLPGS
SGEKGNPGRR GDKGPRGEKG ERGDVGIRGD PGNPGQDSQE RGPKGETGDL GPMGVPGRDG
VPGGPGETGK NGGFGRRGPP GAKGNKGGPG QPGFEGEQGT RGAQGPAGPA GPPGLIGEQG
ISGPRGSGGA AGAPGERGRT GPLGRKGEPG EPGPKGGIGN RGPRGETGDD GRDGVGSEGR
RGKKGERGFP GYPGPKGNPG EPGLNGTTGP KGIRGRRGNS GPPGIVGQKG DPGYPGPAGP
KGNRGDSIDQ CALIQSIKDK CPCCYGPLEC PVFPTELAFA LDTSEGVNQD TFGRMRDVVL
SIVNDLTIAE SNCPRGARVA VVTYNNEVTT EIRFADSKRK SVLLDKIKNL QVALTSKQQS
LETAMSFVAR NTFKRVRNGF LMRKVAVFFS NTPTRASPQL REAVLKLSDA GITPLFLTRQ
EDRQLINALQ INNTAVGHAL VLPAGRDLTD FLENVLTCHV CLDICNIDPS CGFGSWRPSF
RDRRAAGSDV DIDMAFILDS AETTTLFQFN EMKKYIAYLV RQLDMSPDPK ASQHFARVAV
VQHAPSESVD NASMPPVKVE FSLTDYGSKE KLVDFLSRGM TQLQGTRALG SAIEYTIENV
FESAPNPRDL KIVVLMLTGE VPEQQLEEAQ RVILQAKCKG YFFVVLGIGR KVNIKEVYTF
ASEPNDVFFK LVDKSTELNE EPLMRFGRLL PSFVSSENAF YLSPDIRKQC DWFQGDQPTK
NLVKFGHKQV NVPNNVTSSP TSNPVTTTKP VTTTKPVTTT TKPVTTTTKP VTIINQPSVK
PAAAKPAPAK PVAAKPVATK MATVRPPVAV KPATAAKPVA AKPAAVRPPA AAAAKPVATK
PEVPRPQAAK PAATKPATTK PMVKMSREVQ VFEITENSAK LHWERAEPPG PYFYDLTVTS
AHDQSLVLKQ NLTVTDRVIG GLLAGQTYHV AVVCYLRSQV RATYHGSFST KKSQPPPPQP
ARSASSSTIN LMVSTEPLAL TETDICKLPK DEGTCRDFIL KWYYDPNTKS CARFWYGGCG
GNENKFGSQK ECEKVCAPVL AKPGVISVMG T*
mutated AA sequence MRKHRHLPLV AVFCLFLSGF PTTHAQQQQA AQDSADIIFL IDGSNNTGSV NFAVILDFLV
NLLEKLPIGT QQIRVGVVQF SDEPRTMFSL DTYSTKAQVL GAVKALGFAG GELANIGLAL
DFVVENHFTR AGGSRVEEGV PQVLVLISAG PSSDEIRYGV VALKQASVFS FGLGAQAASR
AELQHIATDD NLVFTVPEFR SFGDLQEKLL PYIVGVAQRH IVLKPPTIVT QVIEVNKRDI
VFLVDGSSAL GLANFNAIRD FIAKVIQRLE IGQDLIQVAV AQYADTVRPE FYFNTHPTKR
EVITAVRKMK PLDGSALYTG SALDFVRNNL FTSSAGYRAA EGIPKLLVLI TGGKSLDEIS
QPAQELKRSS IMAFAIGNKG ADQAELEEIA FDSSLVFIPA EFRAAPLQGM LPGLLAPLRT
LSGTPEVHSN KRDIIFLLDG SANVGKTNFP YVRDFVMNLV NSLDIGNDNI RVGLVQFSDT
PVTEFSLNTY QTKSDILGHL RQLQLQGGSG LNTGSALSYV YANHFTEAGG SRIREHVPQL
LLLLTAGQSE DSYLQAANAL TRAGILTFCV GASQANKAEL EQIAFNPSLV YLMDDFSSLP
ALPQQLIQPL TTYVSGGVEE VPLAQPESKR DILFLFDGSA NLVGQFPVVR DFLYKIIDEL
NVKPEGTRIA VAQYSDDVKV ESRFDEHQSK PEILNLVKRM KIKTGKALNL GYALDYAQRY
IFVKSAGSRI EDGVLQFLVL LVAGRSSDRV DGPASNLKQS GVVPFIFQAK NADPAELEQI
VLSPAFILAA ESLPKIGDLH PQIVNLLKSV HNGAPAPVSG EKDVVFLLDG SEGVRSGFPL
LKEFVQRVVE SLDVGQDRVR VAVVQYSDRT RPEFYLNSYM NKQDVVNAVR QLTLLGGPTP
NTGAALEFVL RNILVSSAGS RITEGVPQLL IVLTADRSGD DVRNPSVVVK RGGAVPIGIG
IGNADITEMQ TISFIPDFAV AIPTFRQLGT VQQVISERVT QLTREELSRL QPVLQPLPSP
GVGGKRDVVF LIDGSQSAGP EFQYVRTLIE RLVDYLDVGF DTTRVAVIQF SDDPKVEFLL
NAHSSKDEVQ NAVQRLRPKG GRQINVGNAL EYVSRNIFKR PLGSRIEEGV PQFLVLISSG
KSDDEVDDPA VELKQFGVAP FTIARNADQE ELVKISLSPE YVFSVSTFRE LPSLEQKLLT
PITTLTSEQI QKLLASTRYP PPAVESDAAD IVFLIDSSEG VRPDGFAHIR DFVSRIVRRL
NIGPSKVRVG VVQFSNDVFP EFYLKTYRSQ APVLDAIRRL RLRGGSPLNT GKALEFVARN
LFVKSAGSRI EDGVPQHLVL VLGGKSQDDV SRFAQVIRSS GIVSLGVGDR NIDRTELQTI
TNDPRLVFTV REFRELPNIE ERIMNSFGPS AATPAPPGVD TPPPSRPEKK KADIVFLLDG
SINFRRDSFQ EVLRFVSEIV DTVYEDGDSI QVGLVQYNSD PTDEFFLKDF STKRQIIDAI
NKVVYKGGRH ANTKVGLEHL RVNHFVPEAG SRLDQRVPQI AFVITGGKSV EDAQDVSLAL
TQRGVKVFAV GVRNIDSEEV GKIASNSATA FRVGNVQELS ELSEQVLETL HDAMHETLCP
GVTDAAKACN LDVILGFDGS RDQNVFVAQK GFESKVDAIL NRISQMHRVS CSGGRSPTVR
VSVVANTPSG PVEAFDFDEY QPEMLEKFRN MRSQHPYVLT EDTLKVYLNK FRQSSPDSVK
VVIHFTDGAD GDLADLHRAS ENLRQEGVRA LILVGLERVV NLERLMHLEF GRGFMYDRPL
RLNLLDLDYE LAEQLDNIAE KACCGVPCKC SGQRGDRGPI GSIGPKGIPG EDGYRGYPGD
EGGPGERGPP GVNGTQGFQG CPGQRGVKGS RGFPGEKGEV GEIGLDGLDG EDGDKGLPGS
SGEKGNPGRR GDKGPRGEKG ERGDVGIRGD PGNPGQDSQE RGPKGETGDL GPMGVPGRDG
VPGGPGETGK NGGFGRRGPP GAKGNKGGPG QPGFEGEQGT RGAQGPAGPA GPPGLIGEQG
ISGPRGSGGA AGAPGERGRT GPLGRKGEPG EPGPKGGIGN RGPRGETGDD GRDGVGSEGR
RGKKGERGFP GYPGPKGNPG EPGLNGTTGP KGIRGRRGNS GPPGIVGQKG DPGYPGPAGP
KGNRGDSIDQ CALIQSIKDK CPCCYGPLEC PVFPTELAFA LDTSEGVNQD TFGRMRDVVL
SIVNDLTIAE SNCPRGARVA VVTYNNEVTT EIRFADSKRK SVLLDKIKNL QVALTSKQQS
LETAMSFVAR NTFKRVRNGF LMRKVAVFFS NTPTRASPQL REAVLKLSDA GITPLFLTRQ
EDRQLINALQ INNTAVGHAL VLPAGRDLTD FLENVLTCHV CLDICNIDPS CGFGSWRPSF
RDRRAAGSDV DIDMAFILDS AETTTLFQFN EMKKYIAYLV RQLDMSPDPK ASQHFARVAV
VQHAPSESVD NASMPPVKVE FSLTDYGSKE KLVDFLSRGM TQLQGTRALG SAIEYTIENV
FESAPNPRDL KIVVLMLTGE VPEQQLEEAQ RVILQAKCKG YFFVVLGIGR KVNIKEVYTF
ASEPNDVFFK LVDKSTELNE EPLMRFGRLL PSFVSSENAF YLSPDIRKQC DWFQGDQPTK
NLVKFGHKQV NVPNNVTSSP TSNPVTTTKP VTTTKPVTTT TKPVTTTTKP VTIINQPSVK
PAAAKPAPAK PVAAKPVATK TATVRPPVAV KPATAAKPVA AKPAAVRPPA AAAAKPVATK
PEVPRPQAAK PAATKPATTK PMVKMSREVQ VFEITENSAK LHWERAEPPG PYFYDLTVTS
AHDQSLVLKQ NLTVTDRVIG GLLAGQTYHV AVVCYLRSQV RATYHGSFST KKSQPPPPQP
ARSASSSTIN LMVSTEPLAL TETDICKLPK DEGTCRDFIL KWYYDPNTKS CARFWYGGCG
GNENKFGSQK ECEKVCAPVL AKPGVISVMG T*
speed 1.14 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