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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000293350
Querying Taster for transcript #2: ENST00000455361
Querying Taster for transcript #3: ENST00000540132
Querying Taster for transcript #4: ENST00000433981
MT speed 0 s - this script 4.22835 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ALDH16A1polymorphism_automatic4.55964930257124e-08simple_aaeL227Vsingle base exchangers1320303show file
ALDH16A1polymorphism_automatic4.55964930257124e-08simple_aaeL64Vsingle base exchangers1320303show file
ALDH16A1polymorphism_automatic4.55964930257124e-08simple_aaeL227Vsingle base exchangers1320303show file
ALDH16A1polymorphism_automatic4.55964930257124e-08simple_aaeL62Vsingle base exchangers1320303show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999954403507 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:49964977C>GN/A show variant in all transcripts   IGV
HGNC symbol ALDH16A1
Ensembl transcript ID ENST00000455361
Genbank transcript ID NM_001145396
UniProt peptide Q8IZ83
alteration type single base exchange
alteration region CDS
DNA changes c.679C>G
cDNA.795C>G
g.8505C>G
AA changes L227V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs1320303
databasehomozygous (G/G)heterozygousallele carriers
1000G69411671861
ExAC21446-1012511321
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5990.861
-2.6140.232
(flanking)2.4630.841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 81
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227ELGPFPGILNVLSGPASLVPILAS
mutated  all conserved    227ELGPFPGILNVVSGPASLVPILA
Ptroglodytes  all conserved  ENSPTRG00000011296  227ELGPFPGVLNVISGPASLVPILA
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000009193  197ELGSFPGILNVINGPASLGPILA
Mmusculus  all conserved  ENSMUSG00000007833  227ELGSFPGILNVVCGPASLGPVLA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037935  218EAGMPAGVLNVLTGSEASLAAKMA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003403  230EAGLPPGVFNVVTGNGAFGG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2256 / 2256
position (AA) of stopcodon in wt / mu AA sequence 752 / 752
position of stopcodon in wt / mu cDNA 2372 / 2372
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 117 / 117
chromosome 19
strand 1
last intron/exon boundary 2211
theoretical NMD boundary in CDS 2044
length of CDS 2256
coding sequence (CDS) position 679
cDNA position
(for ins/del: last normal base / first normal base)		 795
gDNA position
(for ins/del: last normal base / first normal base)		 8505
chromosomal position
(for ins/del: last normal base / first normal base)		 49964977
original gDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered gDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
original cDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered cDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
wildtype AA sequence MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVLSGP ASLVPILASQ
PGIRKVAFCG APEGGLRLLI QESVWDEAMR RLQERMGRLR SGRGLDGAVD MGARGAAACD
LVQRFVREAQ SQGAQVFQAG DVPSERPFYP PTLVSNLPPA SPCAQVEVPW PVVVASPFRT
AKEALLVANG TPRGGSASVW SERLGQALEL GYGLQVGTVW INAHGLRDPS VPTGGCKESG
CSWHGGPDGL YEYLRPSGTP ARLSCLSKNL NYDTFGLAVP STLPAGPEIG PSPAPPYGLF
VGGRFQAPGA RSSRPIRDSS GNLHGYVAEG GAKDIRGAVE AAHQAFPGWA GQSPGARAAL
LWALAAALER RKSTLASRLE RQGAELKAAE AEVELSARRL RAWGARVQAQ GHTLQVAGLR
GPVLRLREPL GVLAVVCPDE WPLLAFVSLL APALAYGNTV VMVPSAACPL LALEVCQDMA
TVFPAGLANV VTGDRDHLTR CLALHQDVQA MWYFGSAQGS QFVEWASAGN LKPVWASRGC
PRAWDQEAEG AGPELGLRVA RTKALWLPMG D*
mutated AA sequence MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVVSGP ASLVPILASQ
PGIRKVAFCG APEGGLRLLI QESVWDEAMR RLQERMGRLR SGRGLDGAVD MGARGAAACD
LVQRFVREAQ SQGAQVFQAG DVPSERPFYP PTLVSNLPPA SPCAQVEVPW PVVVASPFRT
AKEALLVANG TPRGGSASVW SERLGQALEL GYGLQVGTVW INAHGLRDPS VPTGGCKESG
CSWHGGPDGL YEYLRPSGTP ARLSCLSKNL NYDTFGLAVP STLPAGPEIG PSPAPPYGLF
VGGRFQAPGA RSSRPIRDSS GNLHGYVAEG GAKDIRGAVE AAHQAFPGWA GQSPGARAAL
LWALAAALER RKSTLASRLE RQGAELKAAE AEVELSARRL RAWGARVQAQ GHTLQVAGLR
GPVLRLREPL GVLAVVCPDE WPLLAFVSLL APALAYGNTV VMVPSAACPL LALEVCQDMA
TVFPAGLANV VTGDRDHLTR CLALHQDVQA MWYFGSAQGS QFVEWASAGN LKPVWASRGC
PRAWDQEAEG AGPELGLRVA RTKALWLPMG D*
speed 0.75 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

polymorphism

 Model: simple_aae, prob: 0.999999954403507 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:49964977C>GN/A show variant in all transcripts   IGV
HGNC symbol ALDH16A1
Ensembl transcript ID ENST00000540132
Genbank transcript ID N/A
UniProt peptide Q8IZ83
alteration type single base exchange
alteration region CDS
DNA changes c.190C>G
cDNA.377C>G
g.8505C>G
AA changes L64V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 64
frameshift no
known variant Reference ID: rs1320303
databasehomozygous (G/G)heterozygousallele carriers
1000G69411671861
ExAC21446-1012511321
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5990.861
-2.6140.232
(flanking)2.4630.841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 81
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      64ELGPFPGILNVLSGPASLVPILAS
mutated  all conserved    64LNVVSGPASLVPILA
Ptroglodytes  all conserved  ENSPTRG00000011296  227ISGPASLVPILA
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000009193  197INGPASLGPILA
Mmusculus  all conserved  ENSMUSG00000007833  227VCGPASLGPVLA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037935  219VLTGSEASLAAKMA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003403  231FNVVTGNGAFGGKLA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1920 / 1920
position (AA) of stopcodon in wt / mu AA sequence 640 / 640
position of stopcodon in wt / mu cDNA 2107 / 2107
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 188 / 188
chromosome 19
strand 1
last intron/exon boundary 1946
theoretical NMD boundary in CDS 1708
length of CDS 1920
coding sequence (CDS) position 190
cDNA position
(for ins/del: last normal base / first normal base)		 377
gDNA position
(for ins/del: last normal base / first normal base)		 8505
chromosomal position
(for ins/del: last normal base / first normal base)		 49964977
original gDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered gDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
original cDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered cDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
wildtype AA sequence MRTGVIGLIL PPTFSFLEMM WRICPALAVG CTVVALVPPA SPAPLLLAQL AGELGPFPGI
LNVLSGPASL VPILASQPGI RKVAFCGAPE EGRALRRSLA GECAELGLAL GTESLLLLTD
TADVDSAVEG VVDAAWSDRG PGGLRLLIQE SVWDEAMRRL QERMGRLRSG RGLDGAVDMG
ARGAAACDLV QRFVREAQSQ GAQVFQAGDV PSERPFYPPT LVSNLPPASP CAQVEVPWPV
VVASPFRTAK EALLVANGTP RGGSASVWSE RLGQALELGY GLQVGTVWIN AHGLRDPSVP
TGGCKESGCS WHGGPDGLYE YLRPSGTPAR LSCLSKNLNY DTFGLAVPST LPAGPEIGPS
PAPPYGLFVG GRFQAPGARS SRPIRDSSGN LHGYVAEGGA KDIRGAVEAA HQAFPGWAGQ
SPGARAALLW ALAAALERRK STLASRLERQ GAELKAAEAE VELSARRLRA WGARVQAQGH
TLQVAGLRGP VLRLREPLGV LAVVCPDEWP LLAFVSLLAP ALAYGNTVVM VPSAACPLLA
LEVCQDMATV FPAGLANVVT GDRDHLTRCL ALHQDVQAMW YFGSAQGSQF VEWASAGNLK
PVWASRGCPR AWDQEAEGAG PELGLRVART KALWLPMGD*
mutated AA sequence MRTGVIGLIL PPTFSFLEMM WRICPALAVG CTVVALVPPA SPAPLLLAQL AGELGPFPGI
LNVVSGPASL VPILASQPGI RKVAFCGAPE EGRALRRSLA GECAELGLAL GTESLLLLTD
TADVDSAVEG VVDAAWSDRG PGGLRLLIQE SVWDEAMRRL QERMGRLRSG RGLDGAVDMG
ARGAAACDLV QRFVREAQSQ GAQVFQAGDV PSERPFYPPT LVSNLPPASP CAQVEVPWPV
VVASPFRTAK EALLVANGTP RGGSASVWSE RLGQALELGY GLQVGTVWIN AHGLRDPSVP
TGGCKESGCS WHGGPDGLYE YLRPSGTPAR LSCLSKNLNY DTFGLAVPST LPAGPEIGPS
PAPPYGLFVG GRFQAPGARS SRPIRDSSGN LHGYVAEGGA KDIRGAVEAA HQAFPGWAGQ
SPGARAALLW ALAAALERRK STLASRLERQ GAELKAAEAE VELSARRLRA WGARVQAQGH
TLQVAGLRGP VLRLREPLGV LAVVCPDEWP LLAFVSLLAP ALAYGNTVVM VPSAACPLLA
LEVCQDMATV FPAGLANVVT GDRDHLTRCL ALHQDVQAMW YFGSAQGSQF VEWASAGNLK
PVWASRGCPR AWDQEAEGAG PELGLRVART KALWLPMGD*
speed 0.88 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

polymorphism

 Model: simple_aae, prob: 0.999999954403507 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:49964977C>GN/A show variant in all transcripts   IGV
HGNC symbol ALDH16A1
Ensembl transcript ID ENST00000293350
Genbank transcript ID NM_153329
UniProt peptide Q8IZ83
alteration type single base exchange
alteration region CDS
DNA changes c.679C>G
cDNA.795C>G
g.8505C>G
AA changes L227V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 227
frameshift no
known variant Reference ID: rs1320303
databasehomozygous (G/G)heterozygousallele carriers
1000G69411671861
ExAC21446-1012511321
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5990.861
-2.6140.232
(flanking)2.4630.841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 81
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      227ELGPFPGILNVLSGPASLVPILAS
mutated  all conserved    227ELGPFPGILNVVSGPASLVPILA
Ptroglodytes  all conserved  ENSPTRG00000011296  227ELGPFPGVLNVISGPASLVPILA
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000009193  197ELGSFPGILNVINGPASLGPILA
Mmusculus  all conserved  ENSMUSG00000007833  227ELGSFPGILNVVCGPASLGPVLA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037935  218EAGMPAGVLNVLTGSEASLAAKMA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003403  230EAGLPPGVFNVVTGNGAFGG
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2409 / 2409
position (AA) of stopcodon in wt / mu AA sequence 803 / 803
position of stopcodon in wt / mu cDNA 2525 / 2525
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 117 / 117
chromosome 19
strand 1
last intron/exon boundary 2364
theoretical NMD boundary in CDS 2197
length of CDS 2409
coding sequence (CDS) position 679
cDNA position
(for ins/del: last normal base / first normal base)		 795
gDNA position
(for ins/del: last normal base / first normal base)		 8505
chromosomal position
(for ins/del: last normal base / first normal base)		 49964977
original gDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered gDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
original cDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered cDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
wildtype AA sequence MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVLSGP ASLVPILASQ
PGIRKVAFCG APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS
DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC DLVQRFVREA
QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP WPVVVASPFR TAKEALLVAN
GTPRGGSASV WSERLGQALE LGYGLQVGTV WINAHGLRDP SVPTGGCKES GCSWHGGPDG
LYEYLRPSGT PARLSCLSKN LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG
ARSSRPIRDS SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE
RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL RGPVLRLREP
LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP LLALEVCQDM ATVFPAGLAN
VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG SQFVEWASAG NLKPVWASRG CPRAWDQEAE
GAGPELGLRV ARTKALWLPM GD*
mutated AA sequence MAATRAGPRA REIFTSLEYG PVPESHACAL AWLDTQDRCL GHYVNGKWLK PEHRNSVPCQ
DPITGENLAS CLQAQAEDVA AAVEAARMAF KGWSAHPGVV RAQHLTRLAE VIQKHQRLLW
TLESLVTGRA VREVRDGDVQ LAQQLLHYHA IQASTQEEAL AGWEPMGVIG LILPPTFSFL
EMMWRICPAL AVGCTVVALV PPASPAPLLL AQLAGELGPF PGILNVVSGP ASLVPILASQ
PGIRKVAFCG APEEGRALRR SLAGECAELG LALGTESLLL LTDTADVDSA VEGVVDAAWS
DRGPGGLRLL IQESVWDEAM RRLQERMGRL RSGRGLDGAV DMGARGAAAC DLVQRFVREA
QSQGAQVFQA GDVPSERPFY PPTLVSNLPP ASPCAQVEVP WPVVVASPFR TAKEALLVAN
GTPRGGSASV WSERLGQALE LGYGLQVGTV WINAHGLRDP SVPTGGCKES GCSWHGGPDG
LYEYLRPSGT PARLSCLSKN LNYDTFGLAV PSTLPAGPEI GPSPAPPYGL FVGGRFQAPG
ARSSRPIRDS SGNLHGYVAE GGAKDIRGAV EAAHQAFPGW AGQSPGARAA LLWALAAALE
RRKSTLASRL ERQGAELKAA EAEVELSARR LRAWGARVQA QGHTLQVAGL RGPVLRLREP
LGVLAVVCPD EWPLLAFVSL LAPALAYGNT VVMVPSAACP LLALEVCQDM ATVFPAGLAN
VVTGDRDHLT RCLALHQDVQ AMWYFGSAQG SQFVEWASAG NLKPVWASRG CPRAWDQEAE
GAGPELGLRV ARTKALWLPM GD*
speed 0.69 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

polymorphism

 Model: simple_aae, prob: 0.999999954403507 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:49964977C>GN/A show variant in all transcripts   IGV
HGNC symbol ALDH16A1
Ensembl transcript ID ENST00000433981
Genbank transcript ID N/A
UniProt peptide Q8IZ83
alteration type single base exchange
alteration region CDS
DNA changes c.184C>G
cDNA.493C>G
g.8505C>G
AA changes L62V Score: 32 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 62
frameshift no
known variant Reference ID: rs1320303
databasehomozygous (G/G)heterozygousallele carriers
1000G69411671861
ExAC21446-1012511321
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.5990.861
-2.6140.232
(flanking)2.4630.841
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites no abrogation of potential splice sites
distance from splice site 81
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      62ELGPFPGILNVLSGPASLVPILAS
mutated  all conserved    62VVSGPASLVPILA
Ptroglodytes  all conserved  ENSPTRG00000011296  227VISGPASLVPILA
Mmulatta  no homologue    
Fcatus  all conserved  ENSFCAG00000009193  197VINGPASLGPILA
Mmusculus  all conserved  ENSMUSG00000007833  227VVCGPASLGPVLA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000037935  219VLTGSEASLAAKMA
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all conserved  ENSXETG00000003403  231VFNVVTGNGAFGGKLA
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1914 / 1914
position (AA) of stopcodon in wt / mu AA sequence 638 / 638
position of stopcodon in wt / mu cDNA 2223 / 2223
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 310 / 310
chromosome 19
strand 1
last intron/exon boundary 2062
theoretical NMD boundary in CDS 1702
length of CDS 1914
coding sequence (CDS) position 184
cDNA position
(for ins/del: last normal base / first normal base)		 493
gDNA position
(for ins/del: last normal base / first normal base)		 8505
chromosomal position
(for ins/del: last normal base / first normal base)		 49964977
original gDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered gDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
original cDNA sequence snippet TCCCGGGAATCCTGAATGTCCTCAGTGGCCCTGCGTCCCTG
altered cDNA sequence snippet TCCCGGGAATCCTGAATGTCGTCAGTGGCCCTGCGTCCCTG
wildtype AA sequence MGVIGLILPP TFSFLEMMWR ICPALAVGCT VVALVPPASP APLLLAQLAG ELGPFPGILN
VLSGPASLVP ILASQPGIRK VAFCGAPEEG RALRRSLAGE CAELGLALGT ESLLLLTDTA
DVDSAVEGVV DAAWSDRGPG GLRLLIQESV WDEAMRRLQE RMGRLRSGRG LDGAVDMGAR
GAAACDLVQR FVREAQSQGA QVFQAGDVPS ERPFYPPTLV SNLPPASPCA QVEVPWPVVV
ASPFRTAKEA LLVANGTPRG GSASVWSERL GQALELGYGL QVGTVWINAH GLRDPSVPTG
GCKESGCSWH GGPDGLYEYL RPSGTPARLS CLSKNLNYDT FGLAVPSTLP AGPEIGPSPA
PPYGLFVGGR FQAPGARSSR PIRDSSGNLH GYVAEGGAKD IRGAVEAAHQ AFPGWAGQSP
GARAALLWAL AAALERRKST LASRLERQGA ELKAAEAEVE LSARRLRAWG ARVQAQGHTL
QVAGLRGPVL RLREPLGVLA VVCPDEWPLL AFVSLLAPAL AYGNTVVMVP SAACPLLALE
VCQDMATVFP AGLANVVTGD RDHLTRCLAL HQDVQAMWYF GSAQGSQFVE WASAGNLKPV
WASRGCPRAW DQEAEGAGPE LGLRVARTKA LWLPMGD*
mutated AA sequence MGVIGLILPP TFSFLEMMWR ICPALAVGCT VVALVPPASP APLLLAQLAG ELGPFPGILN
VVSGPASLVP ILASQPGIRK VAFCGAPEEG RALRRSLAGE CAELGLALGT ESLLLLTDTA
DVDSAVEGVV DAAWSDRGPG GLRLLIQESV WDEAMRRLQE RMGRLRSGRG LDGAVDMGAR
GAAACDLVQR FVREAQSQGA QVFQAGDVPS ERPFYPPTLV SNLPPASPCA QVEVPWPVVV
ASPFRTAKEA LLVANGTPRG GSASVWSERL GQALELGYGL QVGTVWINAH GLRDPSVPTG
GCKESGCSWH GGPDGLYEYL RPSGTPARLS CLSKNLNYDT FGLAVPSTLP AGPEIGPSPA
PPYGLFVGGR FQAPGARSSR PIRDSSGNLH GYVAEGGAKD IRGAVEAAHQ AFPGWAGQSP
GARAALLWAL AAALERRKST LASRLERQGA ELKAAEAEVE LSARRLRAWG ARVQAQGHTL
QVAGLRGPVL RLREPLGVLA VVCPDEWPLL AFVSLLAPAL AYGNTVVMVP SAACPLLALE
VCQDMATVFP AGLANVVTGD RDHLTRCLAL HQDVQAMWYF GSAQGSQFVE WASAGNLKPV
WASRGCPRAW DQEAEGAGPE LGLRVARTKA LWLPMGD*
speed 0.60 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
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Problems