Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 5 transcript(s)...
Querying Taster for transcript #1: ENST00000371929
Querying Taster for transcript #2: ENST00000355699
Querying Taster for transcript #3: ENST00000356589
Querying Taster for transcript #4: ENST00000371910
Querying Taster for transcript #5: ENST00000371916
MT speed 0 s - this script 5.808259 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ADAMTS13disease_causing_automatic0.958432691332149simple_aaeaffected0C9Ysingle base exchangers121908474show file
ADAMTS13disease_causing_automatic0.990073588529475simple_aaeaffected0C1157Ysingle base exchangers121908474show file
ADAMTS13disease_causing_automatic0.993998690763416simple_aaeaffected0C1126Ysingle base exchangers121908474show file
ADAMTS13disease_causing_automatic0.993998690763416simple_aaeaffected0C1213Ysingle base exchangers121908474show file
ADAMTS13disease_causing_automatic1without_aaeaffected0single base exchangers121908474show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.958432691332149 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012894)
  • known disease mutation: rs5808 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136321260G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000371910
Genbank transcript ID N/A
UniProt peptide Q76LX8
alteration type single base exchange
alteration region CDS
DNA changes c.26G>A
cDNA.222G>A
g.41783G>A
AA changes C9Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs121908474
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5808 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4620.948
3.310.936
(flanking)-0.0580.098
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased41775wt: 0.54 / mu: 0.67wt: GGGCAGGCAGACTGT
mu: GGGCAGGCAGACTAT		 GCAG|gcag
Donor increased41784wt: 0.34 / mu: 0.68wt: GACTGTGCAGTGGCC
mu: GACTATGCAGTGGCC		 CTGT|gcag
Donor increased41787wt: 0.24 / mu: 0.35wt: TGTGCAGTGGCCATT
mu: TATGCAGTGGCCATT		 TGCA|gtgg
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MRGPGQADCAVAIGRPLGEVV
mutated  not conserved    9 MRGPGQADYAVAIGRPLGEVVT
Ptroglodytes  all identical  ENSPTRG00000022942  1171 MRGPGQADCAVAIGRPLGEVVT
Mmulatta  all identical  ENSMMUG00000000937  1207 MRGPGQADCAVAIGRPLGEVVT
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  1217 MRDQGRLDCVVAIGRPLGEVVT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  1165 LRNVTERRCIFAIGRPLDEVIQ
Dmelanogaster  no alignment  FBgn0086408  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
129SIGNALPotential.lost
3074PROPEP /FTId=PRO_0000247510.might get lost (downstream of altered splice site)
7171MUTAGENR->K: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with D-73.might get lost (downstream of altered splice site)
7373MUTAGENR->D: Abolishes pro-domain removal but no loss of proteolytic activity; when associated with K-71.might get lost (downstream of altered splice site)
80286DOMAINPeptidase M12B.might get lost (downstream of altered splice site)
8383METALCalcium (Potential).might get lost (downstream of altered splice site)
101101CONFLICTE -> R (in Ref. 1; AA sequence).might get lost (downstream of altered splice site)
142142CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
146146CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
173173METALCalcium (Potential).might get lost (downstream of altered splice site)
202202DISULFIDBy similarity.might get lost (downstream of altered splice site)
224224METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
225225ACT_SITEBy similarity.might get lost (downstream of altered splice site)
228228METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
234234METALZinc; catalytic (By similarity).might get lost (downstream of altered splice site)
242242DISULFIDBy similarity.might get lost (downstream of altered splice site)
265265DISULFIDBy similarity.might get lost (downstream of altered splice site)
281281DISULFIDBy similarity.might get lost (downstream of altered splice site)
281281METALCalcium (Potential).might get lost (downstream of altered splice site)
284284METALCalcium (Potential).might get lost (downstream of altered splice site)
287383DOMAINDisintegrin.might get lost (downstream of altered splice site)
300374REGIONCysteine-rich.might get lost (downstream of altered splice site)
301303HELIXmight get lost (downstream of altered splice site)
307314HELIXmight get lost (downstream of altered splice site)
331334HELIXmight get lost (downstream of altered splice site)
337340STRANDmight get lost (downstream of altered splice site)
359361STRANDmight get lost (downstream of altered splice site)
364367STRANDmight get lost (downstream of altered splice site)
370373STRANDmight get lost (downstream of altered splice site)
374377HELIXmight get lost (downstream of altered splice site)
384439DOMAINTSP type-1 1.might get lost (downstream of altered splice site)
396396DISULFIDBy similarity.might get lost (downstream of altered splice site)
399401STRANDmight get lost (downstream of altered splice site)
400400DISULFIDBy similarity.might get lost (downstream of altered splice site)
403406STRANDmight get lost (downstream of altered splice site)
411411DISULFIDBy similarity.might get lost (downstream of altered splice site)
417419STRANDmight get lost (downstream of altered splice site)
423423DISULFIDBy similarity.might get lost (downstream of altered splice site)
430433STRANDmight get lost (downstream of altered splice site)
433433DISULFIDBy similarity.might get lost (downstream of altered splice site)
438438DISULFIDBy similarity.might get lost (downstream of altered splice site)
442451HELIXmight get lost (downstream of altered splice site)
452455TURNmight get lost (downstream of altered splice site)
470472STRANDmight get lost (downstream of altered splice site)
474476TURNmight get lost (downstream of altered splice site)
479483HELIXmight get lost (downstream of altered splice site)
486489STRANDmight get lost (downstream of altered splice site)
495497STRANDmight get lost (downstream of altered splice site)
498500MOTIFCell attachment site (Potential).might get lost (downstream of altered splice site)
519523STRANDmight get lost (downstream of altered splice site)
526530STRANDmight get lost (downstream of altered splice site)
534536STRANDmight get lost (downstream of altered splice site)
552552CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
554562STRANDmight get lost (downstream of altered splice site)
556685REGIONSpacer.might get lost (downstream of altered splice site)
569576STRANDmight get lost (downstream of altered splice site)
579579CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
581588STRANDmight get lost (downstream of altered splice site)
592599STRANDmight get lost (downstream of altered splice site)
602605STRANDmight get lost (downstream of altered splice site)
608610STRANDmight get lost (downstream of altered splice site)
614614CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
614618STRANDmight get lost (downstream of altered splice site)
623632STRANDmight get lost (downstream of altered splice site)
634636STRANDmight get lost (downstream of altered splice site)
638647STRANDmight get lost (downstream of altered splice site)
653661STRANDmight get lost (downstream of altered splice site)
663665HELIXmight get lost (downstream of altered splice site)
667667CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
667669HELIXmight get lost (downstream of altered splice site)
673680STRANDmight get lost (downstream of altered splice site)
682730DOMAINTSP type-1 2.might get lost (downstream of altered splice site)
707707CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
742805DOMAINTSP type-1 3.might get lost (downstream of altered splice site)
808859DOMAINTSP type-1 4.might get lost (downstream of altered splice site)
828828CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
896950DOMAINTSP type-1 5.might get lost (downstream of altered splice site)
9511011DOMAINTSP type-1 6.might get lost (downstream of altered splice site)
10121068DOMAINTSP type-1 7.might get lost (downstream of altered splice site)
10721131DOMAINTSP type-1 8.might get lost (downstream of altered splice site)
11921298DOMAINCUB 1.might get lost (downstream of altered splice site)
12351235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12991427DOMAINCUB 2.might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 672 / 672
position (AA) of stopcodon in wt / mu AA sequence 224 / 224
position of stopcodon in wt / mu cDNA 868 / 868
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 197 / 197
chromosome 9
strand 1
last intron/exon boundary 662
theoretical NMD boundary in CDS 415
length of CDS 672
coding sequence (CDS) position 26
cDNA position
(for ins/del: last normal base / first normal base)		 222
gDNA position
(for ins/del: last normal base / first normal base)		 41783
chromosomal position
(for ins/del: last normal base / first normal base)		 136321260
original gDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered gDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
original cDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered cDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
wildtype AA sequence MRGPGQADCA VAIGRPLGEV VTLRVLESSL NCSAGDMLLL WGRLTWRKMC RKLLDMTFSS
KTNTLVVRQR CGRPGGGVLL RYGSQLAPET FYRECDMQLF GPWGEIVSPS LSPATSNAGG
CRLFINVAPH ARIAIHALAT NMGAGTEGAN ASYILIRDTH SLRTTAFHGQ QVLYWESESS
QAEMEFSEGF LKAQASLRGQ YWTLQSWVPE MQDPQSWKGK EGT*
mutated AA sequence MRGPGQADYA VAIGRPLGEV VTLRVLESSL NCSAGDMLLL WGRLTWRKMC RKLLDMTFSS
KTNTLVVRQR CGRPGGGVLL RYGSQLAPET FYRECDMQLF GPWGEIVSPS LSPATSNAGG
CRLFINVAPH ARIAIHALAT NMGAGTEGAN ASYILIRDTH SLRTTAFHGQ QVLYWESESS
QAEMEFSEGF LKAQASLRGQ YWTLQSWVPE MQDPQSWKGK EGT*
speed 0.45 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.990073588529475 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012894)
  • known disease mutation: rs5808 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136321260G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000355699
Genbank transcript ID NM_139027
UniProt peptide Q76LX8
alteration type single base exchange
alteration region CDS
DNA changes c.3470G>A
cDNA.3590G>A
g.41783G>A
AA changes C1157Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1157
frameshift no
known variant Reference ID: rs121908474
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5808 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4620.948
3.310.936
(flanking)-0.0580.098
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased41775wt: 0.54 / mu: 0.67wt: GGGCAGGCAGACTGT
mu: GGGCAGGCAGACTAT		 GCAG|gcag
Donor increased41784wt: 0.34 / mu: 0.68wt: GACTGTGCAGTGGCC
mu: GACTATGCAGTGGCC		 CTGT|gcag
Donor increased41787wt: 0.24 / mu: 0.35wt: TGTGCAGTGGCCATT
mu: TATGCAGTGGCCATT		 TGCA|gtgg
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1157TIDMRGPGQADCAVAIGRPLGEVV
mutated  not conserved    1157TIDMRGPGQADYAVAIGRPLGEV
Ptroglodytes  all identical  ENSPTRG00000022942  1168TIDMRGPGQADCAVAIGRPLGEV
Mmulatta  all identical  ENSMMUG00000000937  1206TIDMRGPGQADCAVAIGRPLGEV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  1217IHMRDQGRLDCVVAIGRPLGEV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  1165RNVTERRCIFAIGRPLDEV
Dmelanogaster  no alignment  FBgn0086408  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11921298DOMAINCUB 1.might get lost (downstream of altered splice site)
12351235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12991427DOMAINCUB 2.might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4116 / 4116
position (AA) of stopcodon in wt / mu AA sequence 1372 / 1372
position of stopcodon in wt / mu cDNA 4236 / 4236
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 121 / 121
chromosome 9
strand 1
last intron/exon boundary 4030
theoretical NMD boundary in CDS 3859
length of CDS 4116
coding sequence (CDS) position 3470
cDNA position
(for ins/del: last normal base / first normal base)		 3590
gDNA position
(for ins/del: last normal base / first normal base)		 41783
chromosomal position
(for ins/del: last normal base / first normal base)		 136321260
original gDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered gDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
original cDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered cDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
wildtype AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGACGRQH
LEPTGTIDMR GPGQADCAVA IGRPLGEVVT LRVLESSLNC SAGDMLLLWG RLTWRKMCRK
LLDMTFSSKT NTLVVRQRCG RPGGGVLLRY GSQLAPETFY RECDMQLFGP WGEIVSPSLS
PATSNAGGCR LFINVAPHAR IAIHALATNM GAGTEGANAS YILIRDTHSL RTTAFHGQQV
LYWESESSQA EMEFSEGFLK AQASLRGQYW TLQSWVPEMQ DPQSWKGKEG T*
mutated AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGACGRQH
LEPTGTIDMR GPGQADYAVA IGRPLGEVVT LRVLESSLNC SAGDMLLLWG RLTWRKMCRK
LLDMTFSSKT NTLVVRQRCG RPGGGVLLRY GSQLAPETFY RECDMQLFGP WGEIVSPSLS
PATSNAGGCR LFINVAPHAR IAIHALATNM GAGTEGANAS YILIRDTHSL RTTAFHGQQV
LYWESESSQA EMEFSEGFLK AQASLRGQYW TLQSWVPEMQ DPQSWKGKEG T*
speed 1.38 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.993998690763416 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012894)
  • known disease mutation: rs5808 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136321260G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000356589
Genbank transcript ID NM_139026
UniProt peptide Q76LX8
alteration type single base exchange
alteration region CDS
DNA changes c.3377G>A
cDNA.3497G>A
g.41783G>A
AA changes C1126Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1126
frameshift no
known variant Reference ID: rs121908474
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5808 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4620.948
3.310.936
(flanking)-0.0580.098
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased41775wt: 0.54 / mu: 0.67wt: GGGCAGGCAGACTGT
mu: GGGCAGGCAGACTAT		 GCAG|gcag
Donor increased41784wt: 0.34 / mu: 0.68wt: GACTGTGCAGTGGCC
mu: GACTATGCAGTGGCC		 CTGT|gcag
Donor increased41787wt: 0.24 / mu: 0.35wt: TGTGCAGTGGCCATT
mu: TATGCAGTGGCCATT		 TGCA|gtgg
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1126TIDMRGPGQADCAVAIGRPLGEVV
mutated  not conserved    1126TIDMRGPGQADYAVAIGRPLGEV
Ptroglodytes  all identical  ENSPTRG00000022942  1139TIDMRGPGQADCAVAIGRPLGEV
Mmulatta  all identical  ENSMMUG00000000937  1206TIDMRGPGQADCAVAIGRPLGEV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  1217IHMRDQGRLDCVVAIGRPLGEV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  1165ERRCIFAIGRPLDEV
Dmelanogaster  no alignment  FBgn0086408  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
10721131DOMAINTSP type-1 8.lost
11921298DOMAINCUB 1.might get lost (downstream of altered splice site)
12351235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12991427DOMAINCUB 2.might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4023 / 4023
position (AA) of stopcodon in wt / mu AA sequence 1341 / 1341
position of stopcodon in wt / mu cDNA 4143 / 4143
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 121 / 121
chromosome 9
strand 1
last intron/exon boundary 3937
theoretical NMD boundary in CDS 3766
length of CDS 4023
coding sequence (CDS) position 3377
cDNA position
(for ins/del: last normal base / first normal base)		 3497
gDNA position
(for ins/del: last normal base / first normal base)		 41783
chromosomal position
(for ins/del: last normal base / first normal base)		 136321260
original gDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered gDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
original cDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered cDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
wildtype AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSANEQC RVAFGPKAVA CTFAREHLDM
CQALSCHTDP LDQSSCSRLL VPLLDGTECG VEKWCSKGRC RSLVELTPIA AVHGRWSSWG
PRSPCSRSCG GGVVTRRRQC NNPRPAFGGR ACVGADLQAE MCNTQACEKT QLEFMSQQCA
RTDGQPLRSS PGGASFYHWG AAVPHSQGDA LCRHMCRAIG ESFIMKRGDS FLDGTRCMPS
GPREDGTLSL CVSGSCRTFG CDGRMDSQQV WDRCQVCGGD NSTCSPRKGS FTAGRAREYV
TFLTVTPNLT SVYIANHRPL FTHLAVRIGG RYVVAGKMSI SPNTTYPSLL EDGRVEYRVA
LTEDRLPRLE EIRIWGPLQE DADIQVYRRY GEEYGNLTRP DITFTYFQPK PRQAWVWAAV
RGPCSVSCGA GLRWVNYSCL DQARKELVET VQCQGSQQPP AWPEACVLEP CPPYWAVGDF
GPCSASCGGG LRERPVRCVE AQGSLLKTLP PARCRAGAQQ PAVALETCNP QPCPARWEVS
EPSSCTSAGG AGLALENETC VPGADGLEAP VTEGPGSVDE KLPAPEPCVG MSCPPGWGHL
DATSAGEKAP SPWGSIRTGA QAAHVWTPAA GSCSVSCGRG LMELRFLCMD SALRVPVQEE
LCGLASKPGS RREVCQAVPC PARWQYKLAA CSVSCGRGVV RRILYCARAH GEDDGEEILL
DTQCQGLPRP EPQEACSLEP CPPRWKVMSL GPCSASCGLG TARRSVACVQ LDQGQDVEVD
EAACAALVRP EASVPCLIAD CTYRWHVGTW MECSVSCGDG IQRRRDTCLG PQAQAPVPAD
FCQHLPKPVT VRGCWAGPCV GQGACGRQHL EPTGTIDMRG PGQADCAVAI GRPLGEVVTL
RVLESSLNCS AGDMLLLWGR LTWRKMCRKL LDMTFSSKTN TLVVRQRCGR PGGGVLLRYG
SQLAPETFYR ECDMQLFGPW GEIVSPSLSP ATSNAGGCRL FINVAPHARI AIHALATNMG
AGTEGANASY ILIRDTHSLR TTAFHGQQVL YWESESSQAE MEFSEGFLKA QASLRGQYWT
LQSWVPEMQD PQSWKGKEGT *
mutated AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSANEQC RVAFGPKAVA CTFAREHLDM
CQALSCHTDP LDQSSCSRLL VPLLDGTECG VEKWCSKGRC RSLVELTPIA AVHGRWSSWG
PRSPCSRSCG GGVVTRRRQC NNPRPAFGGR ACVGADLQAE MCNTQACEKT QLEFMSQQCA
RTDGQPLRSS PGGASFYHWG AAVPHSQGDA LCRHMCRAIG ESFIMKRGDS FLDGTRCMPS
GPREDGTLSL CVSGSCRTFG CDGRMDSQQV WDRCQVCGGD NSTCSPRKGS FTAGRAREYV
TFLTVTPNLT SVYIANHRPL FTHLAVRIGG RYVVAGKMSI SPNTTYPSLL EDGRVEYRVA
LTEDRLPRLE EIRIWGPLQE DADIQVYRRY GEEYGNLTRP DITFTYFQPK PRQAWVWAAV
RGPCSVSCGA GLRWVNYSCL DQARKELVET VQCQGSQQPP AWPEACVLEP CPPYWAVGDF
GPCSASCGGG LRERPVRCVE AQGSLLKTLP PARCRAGAQQ PAVALETCNP QPCPARWEVS
EPSSCTSAGG AGLALENETC VPGADGLEAP VTEGPGSVDE KLPAPEPCVG MSCPPGWGHL
DATSAGEKAP SPWGSIRTGA QAAHVWTPAA GSCSVSCGRG LMELRFLCMD SALRVPVQEE
LCGLASKPGS RREVCQAVPC PARWQYKLAA CSVSCGRGVV RRILYCARAH GEDDGEEILL
DTQCQGLPRP EPQEACSLEP CPPRWKVMSL GPCSASCGLG TARRSVACVQ LDQGQDVEVD
EAACAALVRP EASVPCLIAD CTYRWHVGTW MECSVSCGDG IQRRRDTCLG PQAQAPVPAD
FCQHLPKPVT VRGCWAGPCV GQGACGRQHL EPTGTIDMRG PGQADYAVAI GRPLGEVVTL
RVLESSLNCS AGDMLLLWGR LTWRKMCRKL LDMTFSSKTN TLVVRQRCGR PGGGVLLRYG
SQLAPETFYR ECDMQLFGPW GEIVSPSLSP ATSNAGGCRL FINVAPHARI AIHALATNMG
AGTEGANASY ILIRDTHSLR TTAFHGQQVL YWESESSQAE MEFSEGFLKA QASLRGQYWT
LQSWVPEMQD PQSWKGKEGT *
speed 1.39 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.993998690763416 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM012894)
  • known disease mutation: rs5808 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136321260G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000371929
Genbank transcript ID NM_139025
UniProt peptide Q76LX8
alteration type single base exchange
alteration region CDS
DNA changes c.3638G>A
cDNA.4082G>A
g.41783G>A
AA changes C1213Y Score: 194 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1213
frameshift no
known variant Reference ID: rs121908474
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5808 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4620.948
3.310.936
(flanking)-0.0580.098
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased41775wt: 0.54 / mu: 0.67wt: GGGCAGGCAGACTGT
mu: GGGCAGGCAGACTAT		 GCAG|gcag
Donor increased41784wt: 0.34 / mu: 0.68wt: GACTGTGCAGTGGCC
mu: GACTATGCAGTGGCC		 CTGT|gcag
Donor increased41787wt: 0.24 / mu: 0.35wt: TGTGCAGTGGCCATT
mu: TATGCAGTGGCCATT		 TGCA|gtgg
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1213TIDMRGPGQADCAVAIGRPLGEVV
mutated  not conserved    1213TIDMRGPGQADYAVAIGRPLGEV
Ptroglodytes  all identical  ENSPTRG00000022942  1171TIDMRGPGQADCAVAIGRPLGEV
Mmulatta  all identical  ENSMMUG00000000937  1207TIDMRGPGQADCAVAIGRPLGEV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000014852  1217TIHMRDQGRLDCVVAIGRPLGEV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000076270  1166NIDLRNVTERRCIFAIGRPLDEV
Dmelanogaster  no alignment  FBgn0086408  n/a
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
11921298DOMAINCUB 1.lost
12351235CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
12991427DOMAINCUB 2.might get lost (downstream of altered splice site)
13541354CARBOHYDN-linked (GlcNAc...).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4284 / 4284
position (AA) of stopcodon in wt / mu AA sequence 1428 / 1428
position of stopcodon in wt / mu cDNA 4728 / 4728
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 445 / 445
chromosome 9
strand 1
last intron/exon boundary 4522
theoretical NMD boundary in CDS 4027
length of CDS 4284
coding sequence (CDS) position 3638
cDNA position
(for ins/del: last normal base / first normal base)		 4082
gDNA position
(for ins/del: last normal base / first normal base)		 41783
chromosomal position
(for ins/del: last normal base / first normal base)		 136321260
original gDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered gDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
original cDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered cDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
wildtype AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGTPSLVP
HEEAAAPGRT TATPAGASLE WSQARGLLFS PAPQPRRLLP GPQENSVQSS ACGRQHLEPT
GTIDMRGPGQ ADCAVAIGRP LGEVVTLRVL ESSLNCSAGD MLLLWGRLTW RKMCRKLLDM
TFSSKTNTLV VRQRCGRPGG GVLLRYGSQL APETFYRECD MQLFGPWGEI VSPSLSPATS
NAGGCRLFIN VAPHARIAIH ALATNMGAGT EGANASYILI RDTHSLRTTA FHGQQVLYWE
SESSQAEMEF SEGFLKAQAS LRGQYWTLQS WVPEMQDPQS WKGKEGT*
mutated AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHSF GLEHDGAPGS
GCGPSGHVMA SDGAAPRAGL AWSPCSRRQL LSLLSAGRAR CVWDPPRPQP GSAGHPPDAQ
PGLYYSANEQ CRVAFGPKAV ACTFAREHLD MCQALSCHTD PLDQSSCSRL LVPLLDGTEC
GVEKWCSKGR CRSLVELTPI AAVHGRWSSW GPRSPCSRSC GGGVVTRRRQ CNNPRPAFGG
RACVGADLQA EMCNTQACEK TQLEFMSQQC ARTDGQPLRS SPGGASFYHW GAAVPHSQGD
ALCRHMCRAI GESFIMKRGD SFLDGTRCMP SGPREDGTLS LCVSGSCRTF GCDGRMDSQQ
VWDRCQVCGG DNSTCSPRKG SFTAGRAREY VTFLTVTPNL TSVYIANHRP LFTHLAVRIG
GRYVVAGKMS ISPNTTYPSL LEDGRVEYRV ALTEDRLPRL EEIRIWGPLQ EDADIQVYRR
YGEEYGNLTR PDITFTYFQP KPRQAWVWAA VRGPCSVSCG AGLRWVNYSC LDQARKELVE
TVQCQGSQQP PAWPEACVLE PCPPYWAVGD FGPCSASCGG GLRERPVRCV EAQGSLLKTL
PPARCRAGAQ QPAVALETCN PQPCPARWEV SEPSSCTSAG GAGLALENET CVPGADGLEA
PVTEGPGSVD EKLPAPEPCV GMSCPPGWGH LDATSAGEKA PSPWGSIRTG AQAAHVWTPA
AGSCSVSCGR GLMELRFLCM DSALRVPVQE ELCGLASKPG SRREVCQAVP CPARWQYKLA
ACSVSCGRGV VRRILYCARA HGEDDGEEIL LDTQCQGLPR PEPQEACSLE PCPPRWKVMS
LGPCSASCGL GTARRSVACV QLDQGQDVEV DEAACAALVR PEASVPCLIA DCTYRWHVGT
WMECSVSCGD GIQRRRDTCL GPQAQAPVPA DFCQHLPKPV TVRGCWAGPC VGQGTPSLVP
HEEAAAPGRT TATPAGASLE WSQARGLLFS PAPQPRRLLP GPQENSVQSS ACGRQHLEPT
GTIDMRGPGQ ADYAVAIGRP LGEVVTLRVL ESSLNCSAGD MLLLWGRLTW RKMCRKLLDM
TFSSKTNTLV VRQRCGRPGG GVLLRYGSQL APETFYRECD MQLFGPWGEI VSPSLSPATS
NAGGCRLFIN VAPHARIAIH ALATNMGAGT EGANASYILI RDTHSLRTTA FHGQQVLYWE
SESSQAEMEF SEGFLKAQAS LRGQYWTLQS WVPEMQDPQS WKGKEGT*
speed 0.95 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
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: without_aae, prob: 1 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • known disease mutation at this position (HGMD CM012894)
  • known disease mutation: rs5808 (pathogenic)
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr9:136321260G>AN/A show variant in all transcripts   IGV
HGNC symbol ADAMTS13
Ensembl transcript ID ENST00000371916
Genbank transcript ID N/A
UniProt peptide N/A
alteration type single base exchange
alteration region 3'UTR
DNA changes cDNA.3781G>A
g.41783G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs121908474
Allele 'A' was neither found in ExAC nor 1000G.
known disease mutation: rs5808 (pathogenic for Upshaw-Schulman syndrome) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)

known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
known disease mutation at this position, please check HGMD for details (HGMD ID CM012894)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4620.948
3.310.936
(flanking)-0.0580.098
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 1109) splice site change occurs after stopcodon (at aa 1112) splice site change occurs after stopcodon (at aa 1113)
effectgDNA positionscoredetection sequence  exon-intron border
Donor increased41775wt: 0.54 / mu: 0.67wt: GGGCAGGCAGACTGT
mu: GGGCAGGCAGACTAT		 GCAG|gcag
Donor increased41784wt: 0.34 / mu: 0.68wt: GACTGTGCAGTGGCC
mu: GACTATGCAGTGGCC		 CTGT|gcag
Donor increased41787wt: 0.24 / mu: 0.35wt: TGTGCAGTGGCCATT
mu: TATGCAGTGGCCATT		 TGCA|gtgg
distance from splice site 70
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
poly(A) signal signal is predicted to be ok
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 445 / 445
chromosome 9
strand 1
last intron/exon boundary 4221
theoretical NMD boundary in CDS 3726
length of CDS 831
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 3781
gDNA position
(for ins/del: last normal base / first normal base)		 41783
chromosomal position
(for ins/del: last normal base / first normal base)		 136321260
original gDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered gDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
original cDNA sequence snippet AGGCCCAGGGCAGGCAGACTGTGCAGTGGCCATTGGGCGGC
altered cDNA sequence snippet AGGCCCAGGGCAGGCAGACTATGCAGTGGCCATTGGGCGGC
wildtype AA sequence MHQRHPRARC PPLCVAGILA CGFLLGCWGP SHFQQSCLQA LEPQAVSSYL SPGAPLKGRP
PSPGFQRQRQ RQRRAAGGIL HLELLVAVGP DVFQAHQEDT ERYVLTNLNI GAELLRDPSL
GAQFRVHLVK MVILTEPEGA PNITANLTSS LLSVCGWSQT INPEDDTDPG HADLVLYITR
FDLELPDGNR QVRGVTQLGG ACSPTWSCLI TEDTGFDLGV TIAHEIGHRI CARPSPATQT
RWTKAAAAAS SFLSWMGQNV AWRSGAPRVA AAPWWS*
mutated AA sequence N/A
speed 1.36 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
back to results table

Problems