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: ENST00000510636
Querying Taster for transcript #2: ENST00000261944
Querying Taster for transcript #3: ENST00000506348
MT speed 0 s - this script 2.928683 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CDHR2polymorphism_automatic6.75510603009855e-09simple_aaeL1164Msingle base exchangers17078347show file
CDHR2polymorphism_automatic6.75510603009855e-09simple_aaeL1164Msingle base exchangers17078347show file
CDHR2polymorphism_automatic6.75510603009855e-09simple_aaeL1164Msingle base exchangers17078347show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999993244894 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176017639C>AN/A show variant in all transcripts   IGV
HGNC symbol CDHR2
Ensembl transcript ID ENST00000510636
Genbank transcript ID NM_001171976
UniProt peptide Q9BYE9
alteration type single base exchange
alteration region CDS
DNA changes c.3490C>A
cDNA.3764C>A
g.48128C>A
AA changes L1164M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1164
frameshift no
known variant Reference ID: rs17078347
databasehomozygous (A/A)heterozygousallele carriers
1000G206781987
ExAC42202139525615
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0850.256
-0.3690.107
(flanking)1.5820.113
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 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1164ISVIIGLGVALLLVLVIMTMAFVC
mutated  all conserved    1164ISVIIGLGVALMLVLVIMTMAFV
Ptroglodytes  no alignment  ENSPTRG00000017565  n/a
Mmulatta  all identical  ENSMMUG00000013283  1166ISVIIGLGVALLLVLVIMTTAFM
Fcatus  all identical  ENSFCAG00000003068  1161SSVIIGLGVALLLVIVIMTVALV
Mmusculus  all conserved  ENSMUSG00000034918  1162TSVIIGLVVSLVLVLVILITALV
Ggallus  all conserved  ENSGALG00000003285  1159IGVIAGLAAFLVLFILIAILALV
Trubripes  all conserved  ENSTRUG00000011459  1137QYILLGIVAGLVIALVVLTTTLL
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  ZK112.7  n/a
Xtropicalis  all conserved  ENSXETG00000019629  1162YGVIAGLAGALVLILIIMIIALV
protein features
start (aa)end (aa)featuredetails 
11551175TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3933 / 3933
position (AA) of stopcodon in wt / mu AA sequence 1311 / 1311
position of stopcodon in wt / mu cDNA 4207 / 4207
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 275 / 275
chromosome 5
strand 1
last intron/exon boundary 4067
theoretical NMD boundary in CDS 3742
length of CDS 3933
coding sequence (CDS) position 3490
cDNA position
(for ins/del: last normal base / first normal base)		 3764
gDNA position
(for ins/del: last normal base / first normal base)		 48128
chromosomal position
(for ins/del: last normal base / first normal base)		 176017639
original gDNA sequence snippet TAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTGTGATCATG
altered gDNA sequence snippet TAGGATTGGGAGTGGCTTTGATGCTGGTCCTTGTGATCATG
original cDNA sequence snippet TAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTGTGATCATG
altered cDNA sequence snippet TAGGATTGGGAGTGGCTTTGATGCTGGTCCTTGTGATCATG
wildtype AA sequence MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA EDQDNDPLTY
GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS DPYIQVQREM LVIVEDRNDN
APVFQNTAFS TSINETLPVG SVVFSVLAVD KDMGSAGMVV YSIEKVIPST GDSEHLFRIL
ANGSIVLNGS LSYNNKSAFY QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ
FVREFYSASV AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK PEFYNCSLPA
CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS NGTFLLSLGG PDAEAFSVSP
ERAVGSASVQ VLVRVSALVD YERQTAMAVQ VVATDSVSQN FSVAMVTIHL RDINDHRPTF
PQSLYVLTVP EHSATGSVVT DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV
RNGELLDRES QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR EAIDPALEGR
IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY NFTVKEEDPG VLVGVVKAWD
ADQTEANNRI SFSLSGSGAN YFMIRGLVLG AGWAEGYLRL PPDVSLDYET QPVFNLTVSA
ENPDPQGGET IVDVCVNVKD VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA
QLEIQLVNIL CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS VRARDDDSGN
NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG SIQPVTSLDS TLQGTYQVTV
QARDRPSLGP FLEATTTLNL FTVDQSYRSR LQFSTPKEEV GANRQAINAA LTQATRTTVY
IVDIQDIDSA ARARPHSYLD AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS
QESQESDLSK QLISVIIGLG VALLLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD DNSVDVDKNS
QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY TNAGLDTTDL *
mutated AA sequence MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA EDQDNDPLTY
GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS DPYIQVQREM LVIVEDRNDN
APVFQNTAFS TSINETLPVG SVVFSVLAVD KDMGSAGMVV YSIEKVIPST GDSEHLFRIL
ANGSIVLNGS LSYNNKSAFY QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ
FVREFYSASV AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK PEFYNCSLPA
CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS NGTFLLSLGG PDAEAFSVSP
ERAVGSASVQ VLVRVSALVD YERQTAMAVQ VVATDSVSQN FSVAMVTIHL RDINDHRPTF
PQSLYVLTVP EHSATGSVVT DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV
RNGELLDRES QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR EAIDPALEGR
IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY NFTVKEEDPG VLVGVVKAWD
ADQTEANNRI SFSLSGSGAN YFMIRGLVLG AGWAEGYLRL PPDVSLDYET QPVFNLTVSA
ENPDPQGGET IVDVCVNVKD VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA
QLEIQLVNIL CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS VRARDDDSGN
NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG SIQPVTSLDS TLQGTYQVTV
QARDRPSLGP FLEATTTLNL FTVDQSYRSR LQFSTPKEEV GANRQAINAA LTQATRTTVY
IVDIQDIDSA ARARPHSYLD AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS
QESQESDLSK QLISVIIGLG VALMLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD DNSVDVDKNS
QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY TNAGLDTTDL *
speed 0.54 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999993244894 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176017639C>AN/A show variant in all transcripts   IGV
HGNC symbol CDHR2
Ensembl transcript ID ENST00000261944
Genbank transcript ID NM_017675
UniProt peptide Q9BYE9
alteration type single base exchange
alteration region CDS
DNA changes c.3490C>A
cDNA.3529C>A
g.48128C>A
AA changes L1164M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1164
frameshift no
known variant Reference ID: rs17078347
databasehomozygous (A/A)heterozygousallele carriers
1000G206781987
ExAC42202139525615
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0850.256
-0.3690.107
(flanking)1.5820.113
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 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1164ISVIIGLGVALLLVLVIMTMAFVC
mutated  all conserved    1164ISVIIGLGVALMLVLVIMTMAFV
Ptroglodytes  no alignment  ENSPTRG00000017565  n/a
Mmulatta  all identical  ENSMMUG00000013283  1166ISVIIGLGVALLLVLVIMTTAFM
Fcatus  all identical  ENSFCAG00000003068  1161SSVIIGLGVALLLVIVIMTVALV
Mmusculus  all conserved  ENSMUSG00000034918  1162TSVIIGLVVSLVLVLVILITALV
Ggallus  all conserved  ENSGALG00000003285  1159IGVIAGLAAFLVLFILIAILALV
Trubripes  all conserved  ENSTRUG00000011459  1137QYILLGIVAGLVIALVVLTTTLL
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  ZK112.7  n/a
Xtropicalis  all conserved  ENSXETG00000019629  1162YGVIAGLAGALVLILIIMIIALV
protein features
start (aa)end (aa)featuredetails 
11551175TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3933 / 3933
position (AA) of stopcodon in wt / mu AA sequence 1311 / 1311
position of stopcodon in wt / mu cDNA 3972 / 3972
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 40 / 40
chromosome 5
strand 1
last intron/exon boundary 3832
theoretical NMD boundary in CDS 3742
length of CDS 3933
coding sequence (CDS) position 3490
cDNA position
(for ins/del: last normal base / first normal base)		 3529
gDNA position
(for ins/del: last normal base / first normal base)		 48128
chromosomal position
(for ins/del: last normal base / first normal base)		 176017639
original gDNA sequence snippet TAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTGTGATCATG
altered gDNA sequence snippet TAGGATTGGGAGTGGCTTTGATGCTGGTCCTTGTGATCATG
original cDNA sequence snippet TAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTGTGATCATG
altered cDNA sequence snippet TAGGATTGGGAGTGGCTTTGATGCTGGTCCTTGTGATCATG
wildtype AA sequence MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA EDQDNDPLTY
GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS DPYIQVQREM LVIVEDRNDN
APVFQNTAFS TSINETLPVG SVVFSVLAVD KDMGSAGMVV YSIEKVIPST GDSEHLFRIL
ANGSIVLNGS LSYNNKSAFY QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ
FVREFYSASV AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK PEFYNCSLPA
CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS NGTFLLSLGG PDAEAFSVSP
ERAVGSASVQ VLVRVSALVD YERQTAMAVQ VVATDSVSQN FSVAMVTIHL RDINDHRPTF
PQSLYVLTVP EHSATGSVVT DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV
RNGELLDRES QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR EAIDPALEGR
IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY NFTVKEEDPG VLVGVVKAWD
ADQTEANNRI SFSLSGSGAN YFMIRGLVLG AGWAEGYLRL PPDVSLDYET QPVFNLTVSA
ENPDPQGGET IVDVCVNVKD VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA
QLEIQLVNIL CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS VRARDDDSGN
NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG SIQPVTSLDS TLQGTYQVTV
QARDRPSLGP FLEATTTLNL FTVDQSYRSR LQFSTPKEEV GANRQAINAA LTQATRTTVY
IVDIQDIDSA ARARPHSYLD AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS
QESQESDLSK QLISVIIGLG VALLLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD DNSVDVDKNS
QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY TNAGLDTTDL *
mutated AA sequence MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA EDQDNDPLTY
GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS DPYIQVQREM LVIVEDRNDN
APVFQNTAFS TSINETLPVG SVVFSVLAVD KDMGSAGMVV YSIEKVIPST GDSEHLFRIL
ANGSIVLNGS LSYNNKSAFY QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ
FVREFYSASV AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK PEFYNCSLPA
CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS NGTFLLSLGG PDAEAFSVSP
ERAVGSASVQ VLVRVSALVD YERQTAMAVQ VVATDSVSQN FSVAMVTIHL RDINDHRPTF
PQSLYVLTVP EHSATGSVVT DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV
RNGELLDRES QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR EAIDPALEGR
IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY NFTVKEEDPG VLVGVVKAWD
ADQTEANNRI SFSLSGSGAN YFMIRGLVLG AGWAEGYLRL PPDVSLDYET QPVFNLTVSA
ENPDPQGGET IVDVCVNVKD VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA
QLEIQLVNIL CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS VRARDDDSGN
NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG SIQPVTSLDS TLQGTYQVTV
QARDRPSLGP FLEATTTLNL FTVDQSYRSR LQFSTPKEEV GANRQAINAA LTQATRTTVY
IVDIQDIDSA ARARPHSYLD AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS
QESQESDLSK QLISVIIGLG VALMLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD DNSVDVDKNS
QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY TNAGLDTTDL *
speed 0.58 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: 0.999999993244894 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:176017639C>AN/A show variant in all transcripts   IGV
HGNC symbol CDHR2
Ensembl transcript ID ENST00000506348
Genbank transcript ID N/A
UniProt peptide Q9BYE9
alteration type single base exchange
alteration region CDS
DNA changes c.3490C>A
cDNA.3537C>A
g.48128C>A
AA changes L1164M Score: 15 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1164
frameshift no
known variant Reference ID: rs17078347
databasehomozygous (A/A)heterozygousallele carriers
1000G206781987
ExAC42202139525615
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0850.256
-0.3690.107
(flanking)1.5820.113
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 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1164ISVIIGLGVALLLVLVIMTMAFVC
mutated  all conserved    1164ISVIIGLGVALMLVLVIMTMAFV
Ptroglodytes  no alignment  ENSPTRG00000017565  n/a
Mmulatta  all identical  ENSMMUG00000013283  1166ISVIIGLGVALLLVLVIMTTAFM
Fcatus  all identical  ENSFCAG00000003068  1161SSVIIGLGVALLLVIVIMTVALV
Mmusculus  all conserved  ENSMUSG00000034918  1162TSVIIGLVVSLVLVLVILITALV
Ggallus  all conserved  ENSGALG00000003285  1159IGVIAGLAAFLVLFILIAILALV
Trubripes  all conserved  ENSTRUG00000011459  1137QYILLGIVAGLVIALVVLTTTLL
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no alignment  ZK112.7  n/a
Xtropicalis  all conserved  ENSXETG00000019629  1162YGVIAGLAGALVLILIIMIIALV
protein features
start (aa)end (aa)featuredetails 
11551175TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3933 / 3933
position (AA) of stopcodon in wt / mu AA sequence 1311 / 1311
position of stopcodon in wt / mu cDNA 3980 / 3980
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 48 / 48
chromosome 5
strand 1
last intron/exon boundary 3840
theoretical NMD boundary in CDS 3742
length of CDS 3933
coding sequence (CDS) position 3490
cDNA position
(for ins/del: last normal base / first normal base)		 3537
gDNA position
(for ins/del: last normal base / first normal base)		 48128
chromosomal position
(for ins/del: last normal base / first normal base)		 176017639
original gDNA sequence snippet TAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTGTGATCATG
altered gDNA sequence snippet TAGGATTGGGAGTGGCTTTGATGCTGGTCCTTGTGATCATG
original cDNA sequence snippet TAGGATTGGGAGTGGCTTTGCTGCTGGTCCTTGTGATCATG
altered cDNA sequence snippet TAGGATTGGGAGTGGCTTTGATGCTGGTCCTTGTGATCATG
wildtype AA sequence MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA EDQDNDPLTY
GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS DPYIQVQREM LVIVEDRNDN
APVFQNTAFS TSINETLPVG SVVFSVLAVD KDMGSAGMVV YSIEKVIPST GDSEHLFRIL
ANGSIVLNGS LSYNNKSAFY QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ
FVREFYSASV AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK PEFYNCSLPA
CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS NGTFLLSLGG PDAEAFSVSP
ERAVGSASVQ VLVRVSALVD YERQTAMAVQ VVATDSVSQN FSVAMVTIHL RDINDHRPTF
PQSLYVLTVP EHSATGSVVT DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV
RNGELLDRES QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR EAIDPALEGR
IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY NFTVKEEDPG VLVGVVKAWD
ADQTEANNRI SFSLSGSGAN YFMIRGLVLG AGWAEGYLRL PPDVSLDYET QPVFNLTVSA
ENPDPQGGET IVDVCVNVKD VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA
QLEIQLVNIL CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS VRARDDDSGN
NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG SIQPVTSLDS TLQGTYQVTV
QARDRPSLGP FLEATTTLNL FTVDQSYRSR LQFSTPKEEV GANRQAINAA LTQATRTTVY
IVDIQDIDSA ARARPHSYLD AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS
QESQESDLSK QLISVIIGLG VALLLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD DNSVDVDKNS
QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY TNAGLDTTDL *
mutated AA sequence MAQLWLSCFL LPALVVSVAA NVAPKFLANM TSVILPEDLP VGAQAFWLVA EDQDNDPLTY
GMSGPNAYFF AVTPKTGEVK LASALDYETL YTFKVTISVS DPYIQVQREM LVIVEDRNDN
APVFQNTAFS TSINETLPVG SVVFSVLAVD KDMGSAGMVV YSIEKVIPST GDSEHLFRIL
ANGSIVLNGS LSYNNKSAFY QLELKACDLG GMYHNTFTIQ CSLPVFLSIS VVDQPDLDPQ
FVREFYSASV AEDAAKGTSV LTVEAVDGDK GINDPVIYSI SYSTRPGWFD IGADGVIRVN
GSLDREQLLE ADEEVQLQVT ATETHLNIYG QEAKVSIWVT VRVMDVNDHK PEFYNCSLPA
CTFTPEEAQV NFTGYVDEHA SPRIPIDDLT MVVYDPDKGS NGTFLLSLGG PDAEAFSVSP
ERAVGSASVQ VLVRVSALVD YERQTAMAVQ VVATDSVSQN FSVAMVTIHL RDINDHRPTF
PQSLYVLTVP EHSATGSVVT DSIHATDPDT GAWGQITYSL LPGNGADLFQ VDPVSGTVTV
RNGELLDRES QAVYYLTLQA TDGGNLSSST TLQIHLLDIN DNAPVVSGSY NIFVQEEEGN
VSVTIQAHDN DEPGTNNSRL LFNLLPGPYS HNFSLDPDTG LLRNLGPLDR EAIDPALEGR
IVLTVLVSDC GEPVLGTKVN VTITVEDIND NLPIFNQSSY NFTVKEEDPG VLVGVVKAWD
ADQTEANNRI SFSLSGSGAN YFMIRGLVLG AGWAEGYLRL PPDVSLDYET QPVFNLTVSA
ENPDPQGGET IVDVCVNVKD VNDNPPTLDV ASLRGIRVAE NGSQHGQVAV VVASDVDTSA
QLEIQLVNIL CTKAGVDVGS LCWGWFSVAA NGSVYINQSK AIDYEACDLV TLVVRACDLA
TDPGFQAYSN NGSLLITIED VNDNAPYFLP ENKTFVIIPE LVLPNREVAS VRARDDDSGN
NGVILFSILR VDFISKDGAT IPFQGVFSIF TSSEADVFAG SIQPVTSLDS TLQGTYQVTV
QARDRPSLGP FLEATTTLNL FTVDQSYRSR LQFSTPKEEV GANRQAINAA LTQATRTTVY
IVDIQDIDSA ARARPHSYLD AYFVFPNGSA LTLDELSVMI RNDQDSLTQL LQLGLVVLGS
QESQESDLSK QLISVIIGLG VALMLVLVIM TMAFVCVRKS YNRKLQAMKA AKEARKTAAG
VMPSAPAIPG TNMYNTERAN PMLNLPNKDL GLEYLSPSND LDSVSVNSLD DNSVDVDKNS
QEIKEHRPPH TPPEPDPEPL SVVLLGRQAG ASGQLEGPSY TNAGLDTTDL *
speed 0.32 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