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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000297784
Querying Taster for transcript #2: ENST00000340019
Querying Taster for transcript #3: ENST00000396237
MT speed 0 s - this script 3.768297 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TMC1polymorphism_automatic0.999685469849129simple_aaeaffectedE81Ksingle base exchangers1796993show file
TMC1polymorphism_automatic0.999685469849129simple_aaeaffectedE81Ksingle base exchangers1796993show file
TMC1polymorphism_automatic0.999685469849129simple_aaeaffectedE81Ksingle base exchangers1796993show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.000314530150871376 (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) chr9:75315438G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC1
Ensembl transcript ID ENST00000297784
Genbank transcript ID NM_138691
UniProt peptide Q8TDI8
alteration type single base exchange
alteration region CDS
DNA changes c.241G>A
cDNA.781G>A
g.178722G>A
AA changes E81K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 81
frameshift no
known variant Reference ID: rs1796993
databasehomozygous (A/A)heterozygousallele carriers
1000G2179501167
ExAC37912119024981
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4641
4.0431
(flanking)3.3711
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 increased178716wt: 0.9643 / mu: 0.9740 (marginal change - not scored)wt: TGTTTCTTTTTTACTTTTAAAGAGAAGAAGAAGAAATTGAT
mu: TGTTTCTTTTTTACTTTTAAAGAGAAAAAGAAGAAATTGAT		 taaa|GAGA
Acc marginally increased178713wt: 0.9270 / mu: 0.9353 (marginal change - not scored)wt: AGGTGTTTCTTTTTTACTTTTAAAGAGAAGAAGAAGAAATT
mu: AGGTGTTTCTTTTTTACTTTTAAAGAGAAAAAGAAGAAATT		 tttt|AAAG
Donor increased178725wt: 0.60 / mu: 0.74wt: AAGAAGAAGAAATTG
mu: AAAAAGAAGAAATTG		 GAAG|aaga
Donor increased178727wt: 0.66 / mu: 0.84wt: GAAGAAGAAATTGAT
mu: AAAGAAGAAATTGAT		 AGAA|gaaa
Donor increased178724wt: 0.23 / mu: 0.43wt: GAAGAAGAAGAAATT
mu: GAAAAAGAAGAAATT		 AGAA|gaag
Donor increased178722wt: 0.84 / mu: 0.98wt: GAGAAGAAGAAGAAA
mu: GAGAAAAAGAAGAAA		 GAAG|aaga
Donor marginally increased178719wt: 0.9745 / mu: 0.9786 (marginal change - not scored)wt: AAAGAGAAGAAGAAG
mu: AAAGAGAAAAAGAAG		 AGAG|aaga
Donor increased178718wt: 0.70 / mu: 0.99wt: TAAAGAGAAGAAGAA
mu: TAAAGAGAAAAAGAA		 AAGA|gaag
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      81ERRRRLKRGAEEEEIDEEELERLK
mutated  all conserved    81ERRRRLKRGAEKEEIDEEELERL
Ptroglodytes  all identical  ENSPTRG00000021022  81ERRRRLKRGAEEEEIDEEELERL
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000014765  81ERRRRLKRGAEEEEIDEEELERL
Mmusculus  all identical  ENSMUSG00000024749  74ERRRRLRRGAEEEEEIDEEELERL
Ggallus  all identical  ENSGALG00000015145  188SGSDSDSEEEPITEEELAKL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000056386  n/a
Dmelanogaster  all identical  FBgn0036017  176RRSSVYTTSSEEGTNQESTQEQI
Celegans  all conserved  T13G4.3  64INKGDKQRETDEDGNPLTRQAL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1199TOPO_DOMCytoplasmic (Potential).lost
4178COMPBIASArg/Asp/Glu/Lys-rich (highly charged).lost
200220TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
221272TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
273293TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
294365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387440TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
441461TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
462634TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
635655TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
656699TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
673673CONFLICTM -> R (in Ref. 4; BAC05351).might get lost (downstream of altered splice site)
700720TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
721760TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
749757COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2283 / 2283
position (AA) of stopcodon in wt / mu AA sequence 761 / 761
position of stopcodon in wt / mu cDNA 2823 / 2823
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 541 / 541
chromosome 9
strand 1
last intron/exon boundary 2801
theoretical NMD boundary in CDS 2210
length of CDS 2283
coding sequence (CDS) position 241
cDNA position
(for ins/del: last normal base / first normal base)		 781
gDNA position
(for ins/del: last normal base / first normal base)		 178722
chromosomal position
(for ins/del: last normal base / first normal base)		 75315438
original gDNA sequence snippet TTTTTTACTTTTAAAGAGAAGAAGAAGAAATTGATGAAGAG
altered gDNA sequence snippet TTTTTTACTTTTAAAGAGAAAAAGAAGAAATTGATGAAGAG
original cDNA sequence snippet GGCTAAAGAGAGGAGCAGAAGAAGAAGAAATTGATGAAGAG
altered cDNA sequence snippet GGCTAAAGAGAGGAGCAGAAAAAGAAGAAATTGATGAAGAG
wildtype AA sequence MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ *
mutated AA sequence MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
EETRKAREKE RRRRLKRGAE KEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ *
speed 0.55 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: 0.000314530150871376 (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) chr9:75315438G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC1
Ensembl transcript ID ENST00000340019
Genbank transcript ID N/A
UniProt peptide Q8TDI8
alteration type single base exchange
alteration region CDS
DNA changes c.241G>A
cDNA.670G>A
g.178722G>A
AA changes E81K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 81
frameshift no
known variant Reference ID: rs1796993
databasehomozygous (A/A)heterozygousallele carriers
1000G2179501167
ExAC37912119024981
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4641
4.0431
(flanking)3.3711
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 increased178716wt: 0.9643 / mu: 0.9740 (marginal change - not scored)wt: TGTTTCTTTTTTACTTTTAAAGAGAAGAAGAAGAAATTGAT
mu: TGTTTCTTTTTTACTTTTAAAGAGAAAAAGAAGAAATTGAT		 taaa|GAGA
Acc marginally increased178713wt: 0.9270 / mu: 0.9353 (marginal change - not scored)wt: AGGTGTTTCTTTTTTACTTTTAAAGAGAAGAAGAAGAAATT
mu: AGGTGTTTCTTTTTTACTTTTAAAGAGAAAAAGAAGAAATT		 tttt|AAAG
Donor increased178725wt: 0.60 / mu: 0.74wt: AAGAAGAAGAAATTG
mu: AAAAAGAAGAAATTG		 GAAG|aaga
Donor increased178727wt: 0.66 / mu: 0.84wt: GAAGAAGAAATTGAT
mu: AAAGAAGAAATTGAT		 AGAA|gaaa
Donor increased178724wt: 0.23 / mu: 0.43wt: GAAGAAGAAGAAATT
mu: GAAAAAGAAGAAATT		 AGAA|gaag
Donor increased178722wt: 0.84 / mu: 0.98wt: GAGAAGAAGAAGAAA
mu: GAGAAAAAGAAGAAA		 GAAG|aaga
Donor marginally increased178719wt: 0.9745 / mu: 0.9786 (marginal change - not scored)wt: AAAGAGAAGAAGAAG
mu: AAAGAGAAAAAGAAG		 AGAG|aaga
Donor increased178718wt: 0.70 / mu: 0.99wt: TAAAGAGAAGAAGAA
mu: TAAAGAGAAAAAGAA		 AAGA|gaag
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      81ERRRRLKRGAEEEEIDEEELERLK
mutated  all conserved    81ERRRRLKRGAEKEEIDEEELERL
Ptroglodytes  all identical  ENSPTRG00000021022  81ERRRRLKRGAEEEEIDEEELERL
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000014765  81ERRRRLKRGAEEEEIDEEELERL
Mmusculus  all identical  ENSMUSG00000024749  74ERRRRLRRGAEEEEEIDEEELERL
Ggallus  all identical  ENSGALG00000015145  188SGSDSDSEEEPITEEELAKL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000056386  n/a
Dmelanogaster  all identical  FBgn0036017  176RRSSVYTTSSEEGTNQESTQEQI
Celegans  all conserved  T13G4.3  64INKGDKQRETDEDGNPLTRQAL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1199TOPO_DOMCytoplasmic (Potential).lost
4178COMPBIASArg/Asp/Glu/Lys-rich (highly charged).lost
200220TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
221272TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
273293TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
294365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387440TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
441461TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
462634TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
635655TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
656699TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
673673CONFLICTM -> R (in Ref. 4; BAC05351).might get lost (downstream of altered splice site)
700720TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
721760TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
749757COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2283 / 2283
position (AA) of stopcodon in wt / mu AA sequence 761 / 761
position of stopcodon in wt / mu cDNA 2712 / 2712
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 430 / 430
chromosome 9
strand 1
last intron/exon boundary 2690
theoretical NMD boundary in CDS 2210
length of CDS 2283
coding sequence (CDS) position 241
cDNA position
(for ins/del: last normal base / first normal base)		 670
gDNA position
(for ins/del: last normal base / first normal base)		 178722
chromosomal position
(for ins/del: last normal base / first normal base)		 75315438
original gDNA sequence snippet TTTTTTACTTTTAAAGAGAAGAAGAAGAAATTGATGAAGAG
altered gDNA sequence snippet TTTTTTACTTTTAAAGAGAAAAAGAAGAAATTGATGAAGAG
original cDNA sequence snippet GGCTAAAGAGAGGAGCAGAAGAAGAAGAAATTGATGAAGAG
altered cDNA sequence snippet GGCTAAAGAGAGGAGCAGAAAAAGAAGAAATTGATGAAGAG
wildtype AA sequence MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ *
mutated AA sequence MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
EETRKAREKE RRRRLKRGAE KEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ *
speed 0.86 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: 0.000314530150871376 (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) chr9:75315438G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC1
Ensembl transcript ID ENST00000396237
Genbank transcript ID N/A
UniProt peptide Q8TDI8
alteration type single base exchange
alteration region CDS
DNA changes c.241G>A
cDNA.241G>A
g.178722G>A
AA changes E81K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 81
frameshift no
known variant Reference ID: rs1796993
databasehomozygous (A/A)heterozygousallele carriers
1000G2179501167
ExAC37912119024981
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.4641
4.0431
(flanking)3.3711
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 increased178716wt: 0.9643 / mu: 0.9740 (marginal change - not scored)wt: TGTTTCTTTTTTACTTTTAAAGAGAAGAAGAAGAAATTGAT
mu: TGTTTCTTTTTTACTTTTAAAGAGAAAAAGAAGAAATTGAT		 taaa|GAGA
Acc marginally increased178713wt: 0.9270 / mu: 0.9353 (marginal change - not scored)wt: AGGTGTTTCTTTTTTACTTTTAAAGAGAAGAAGAAGAAATT
mu: AGGTGTTTCTTTTTTACTTTTAAAGAGAAAAAGAAGAAATT		 tttt|AAAG
Donor increased178725wt: 0.60 / mu: 0.74wt: AAGAAGAAGAAATTG
mu: AAAAAGAAGAAATTG		 GAAG|aaga
Donor increased178727wt: 0.66 / mu: 0.84wt: GAAGAAGAAATTGAT
mu: AAAGAAGAAATTGAT		 AGAA|gaaa
Donor increased178724wt: 0.23 / mu: 0.43wt: GAAGAAGAAGAAATT
mu: GAAAAAGAAGAAATT		 AGAA|gaag
Donor increased178722wt: 0.84 / mu: 0.98wt: GAGAAGAAGAAGAAA
mu: GAGAAAAAGAAGAAA		 GAAG|aaga
Donor marginally increased178719wt: 0.9745 / mu: 0.9786 (marginal change - not scored)wt: AAAGAGAAGAAGAAG
mu: AAAGAGAAAAAGAAG		 AGAG|aaga
Donor increased178718wt: 0.70 / mu: 0.99wt: TAAAGAGAAGAAGAA
mu: TAAAGAGAAAAAGAA		 AAGA|gaag
distance from splice site 5
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      81ERRRRLKRGAEEEEIDEEELERLK
mutated  all conserved    81ERRRRLKRGAEKEEIDEEELERL
Ptroglodytes  all identical  ENSPTRG00000021022  81ERRRRLKRGAEEEEIDEEELERL
Mmulatta  no homologue    
Fcatus  all identical  ENSFCAG00000014765  81ERRRRLKRGAEEEEIDEEELERL
Mmusculus  all identical  ENSMUSG00000024749  74ERRRRLRRGAEEEEEIDEEELERL
Ggallus  all identical  ENSGALG00000015145  188SGSDSDSEEEPITEEELAKL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000056386  n/a
Dmelanogaster  all identical  FBgn0036017  176RRSSVYTTSSEEGTNQESTQEQI
Celegans  all conserved  T13G4.3  64INKGDKQRETDEDGNPLTRQAL
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1199TOPO_DOMCytoplasmic (Potential).lost
4178COMPBIASArg/Asp/Glu/Lys-rich (highly charged).lost
200220TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
221272TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
273293TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
294365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387440TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
441461TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
462634TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
635655TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
656699TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
673673CONFLICTM -> R (in Ref. 4; BAC05351).might get lost (downstream of altered splice site)
700720TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
721760TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
749757COMPBIASPoly-Ala.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2283 / 2283
position (AA) of stopcodon in wt / mu AA sequence 761 / 761
position of stopcodon in wt / mu cDNA 2283 / 2283
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 9
strand 1
last intron/exon boundary 2261
theoretical NMD boundary in CDS 2210
length of CDS 2283
coding sequence (CDS) position 241
cDNA position
(for ins/del: last normal base / first normal base)		 241
gDNA position
(for ins/del: last normal base / first normal base)		 178722
chromosomal position
(for ins/del: last normal base / first normal base)		 75315438
original gDNA sequence snippet TTTTTTACTTTTAAAGAGAAGAAGAAGAAATTGATGAAGAG
altered gDNA sequence snippet TTTTTTACTTTTAAAGAGAAAAAGAAGAAATTGATGAAGAG
original cDNA sequence snippet GGCTAAAGAGAGGAGCAGAAGAAGAAGAAATTGATGAAGAG
altered cDNA sequence snippet GGCTAAAGAGAGGAGCAGAAAAAGAAGAAATTGATGAAGAG
wildtype AA sequence MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
EETRKAREKE RRRRLKRGAE EEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ *
mutated AA sequence MSPKKVQIKV EEKEDETEES SSEEEEEVED KLPRRESLRP KRKRTRDVIN EDDPEPEPED
EETRKAREKE RRRRLKRGAE KEEIDEEELE RLKAELDEKR QIIATVKCKP WKMEKKIEVL
KEAKKFVSEN EGALGKGKGK RWFAFKMMMA KKWAKFLRDF ENFKAACVPW ENKIKAIESQ
FGSSVASYFL FLRWMYGVNM VLFILTFSLI MLPEYLWGLP YGSLPRKTVP RAEEASAANF
GVLYDFNGLA QYSVLFYGYY DNKRTIGWMN FRLPLSYFLV GIMCIGYSFL VVLKAMTKNI
GDDGGGDDNT FNFSWKVFTS WDYLIGNPET ADNKFNSITM NFKEAITEEK AAQVEENVHL
IRFLRFLANF FVFLTLGGSG YLIFWAVKRS QEFAQQDPDT LGWWEKNEMN MVMSLLGMFC
PTLFDLFAEL EDYHPLIALK WLLGRIFALL LGNLYVFILA LMDEINNKIE EEKLVKANIT
LWEANMIKAY NASFSENSTG PPFFVHPADV PRGPCWETMV GQEFVRLTVS DVLTTYVTIL
IGDFLRACFV RFCNYCWCWD LEYGYPSYTE FDISGNVLAL IFNQGMIWMG SFFAPSLPGI
NILRLHTSMY FQCWAVMCCN VPEARVFKAS RSNNFYLGML LLILFLSTMP VLYMIVSLPP
SFDCGPFSGK NRMFEVIGET LEHDFPSWMA KILRQLSNPG LVIAVILVMV LAIYYLNATA
KGQKAANLDL KKKMKMQALE NKMRNKKMAA ARAAAAAGRQ *
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

Problems