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: ENST00000348370
Querying Taster for transcript #2: ENST00000559209
Querying Taster for transcript #3: ENST00000557998
Querying Taster for transcript #4: ENST00000561186
Querying Taster for transcript #5: ENST00000434298
MT speed 4.51 s - this script 6.025627 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
RNF111polymorphism_automatic0.050888603514295simple_aaeaffectedN9Ksingle base exchangers2899642show file
RNF111polymorphism_automatic0.050888603514295simple_aaeaffectedN9Ksingle base exchangers2899642show file
RNF111polymorphism_automatic0.050888603514295simple_aaeaffectedN9Ksingle base exchangers2899642show file
RNF111polymorphism_automatic0.050888603514295simple_aaeaffectedN9Ksingle base exchangers2899642show file
RNF111polymorphism_automatic0.050888603514295simple_aaeaffectedN9Ksingle base exchangers2899642show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.949111396485705 (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) chr15:59323048C>GN/A show variant in all transcripts   IGV
HGNC symbol RNF111
Ensembl transcript ID ENST00000348370
Genbank transcript ID NM_001270529
UniProt peptide Q6ZNA4
alteration type single base exchange
alteration region CDS
DNA changes c.27C>G
cDNA.460C>G
g.165675C>G
AA changes N9K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
9
frameshift no
known variant Reference ID: rs2899642
databasehomozygous (G/G)heterozygousallele carriers
1000G204752956
ExAC88381509123929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
0.5690.997
(flanking)0.2270.996
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 increased165668wt: 0.3531 / mu: 0.4127 (marginal change - not scored)wt: CATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCT
mu: CATGTCTCAATGGACTCCTGAATATAAGGAGCTCTACACCT
 ctga|ATAT
Donor gained1656690.98mu: CCTGAATATAAGGAG TGAA|tata
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSQWTPEYNELYTLKVDMKSE
mutated  not conserved    9 MSQWTPEYKELYTLKVDMKSEI
Ptroglodytes  all identical  ENSPTRG00000007122  9 MSQWTPEYNELYTLKVDMKSEI
Mmulatta  all identical  ENSMMUG00000013089  9 MSQWTPEYNELYTLKVDMKSEI
Fcatus  all identical  ENSFCAG00000009412  9 MSQWTPEYNKLYTLKVDMKSEI
Mmusculus  all identical  ENSMUSG00000032217  9 MSQWTPEFNELYTLKVAMKSGT
Ggallus  no alignment  ENSGALG00000004171  n/a
Trubripes  no alignment  ENSTRUG00000017751  n/a
Drerio  no alignment  ENSDARG00000078802  n/a
Dmelanogaster  no alignment  FBgn0037944  n/a
Celegans  no alignment  W02A11.3  n/a
Xtropicalis  not conserved  ENSXETG00000010842  9 LKKWSTGLVFNHSEKADMKSEV
protein features
start (aa)end (aa)featuredetails 
241404REGIONInteraction with AXIN1.might get lost (downstream of altered splice site)
252464COMPBIASSer-rich.might get lost (downstream of altered splice site)
473473CONFLICTA -> E (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
494523COMPBIASHis-rich.might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 3; AAH60862/AAH20984).might get lost (downstream of altered splice site)
629781COMPBIASPro-rich.might get lost (downstream of altered splice site)
809809CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
931931CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
942983ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
943946TURNmight get lost (downstream of altered splice site)
951953STRANDmight get lost (downstream of altered splice site)
955957STRANDmight get lost (downstream of altered splice site)
963965STRANDmight get lost (downstream of altered splice site)
966975HELIXmight get lost (downstream of altered splice site)
974974CONFLICTI -> V (in Ref. 1; BAD18471).might get lost (downstream of altered splice site)
980982TURNmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2961 / 2961
position (AA) of stopcodon in wt / mu AA sequence 987 / 987
position of stopcodon in wt / mu cDNA 3394 / 3394
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 434 / 434
chromosome 15
strand 1
last intron/exon boundary 3277
theoretical NMD boundary in CDS 2793
length of CDS 2961
coding sequence (CDS) position 27
cDNA position
(for ins/del: last normal base / first normal base)
460
gDNA position
(for ins/del: last normal base / first normal base)
165675
chromosomal position
(for ins/del: last normal base / first normal base)
59323048
original gDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered gDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
original cDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered cDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
wildtype AA sequence MSQWTPEYNE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTRAHE RPPPHPHRMH
PNYGHGHHIH VPQTMSSHPR QAPERSAWEL GIEAGVTAAT YTPGALHPHL AHYHAPPRLH
HLQLGALPLM VPDMAGYPHI RYISSGLDGT SFRGPFRGNF EELIHLEERL GNVNRGASQG
TIERCTYPHK YKKRKLHCKQ DGEEGTEEDT EEKCTICLSI LEEGEDVRRL PCMHLFHQVC
VDQWLITNKK CPICRVDIEA QLPSES*
mutated AA sequence MSQWTPEYKE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTRAHE RPPPHPHRMH
PNYGHGHHIH VPQTMSSHPR QAPERSAWEL GIEAGVTAAT YTPGALHPHL AHYHAPPRLH
HLQLGALPLM VPDMAGYPHI RYISSGLDGT SFRGPFRGNF EELIHLEERL GNVNRGASQG
TIERCTYPHK YKKRKLHCKQ DGEEGTEEDT EEKCTICLSI LEEGEDVRRL PCMHLFHQVC
VDQWLITNKK CPICRVDIEA QLPSES*
speed 0.91 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: 0.949111396485705 (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) chr15:59323048C>GN/A show variant in all transcripts   IGV
HGNC symbol RNF111
Ensembl transcript ID ENST00000559209
Genbank transcript ID NM_001270528
UniProt peptide Q6ZNA4
alteration type single base exchange
alteration region CDS
DNA changes c.27C>G
cDNA.163C>G
g.165675C>G
AA changes N9K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
9
frameshift no
known variant Reference ID: rs2899642
databasehomozygous (G/G)heterozygousallele carriers
1000G204752956
ExAC88381509123929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
0.5690.997
(flanking)0.2270.996
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 increased165668wt: 0.3531 / mu: 0.4127 (marginal change - not scored)wt: CATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCT
mu: CATGTCTCAATGGACTCCTGAATATAAGGAGCTCTACACCT
 ctga|ATAT
Donor gained1656690.98mu: CCTGAATATAAGGAG TGAA|tata
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSQWTPEYNELYTLKVDMKSE
mutated  not conserved    9 MSQWTPEYKELYTLKVDMKSEI
Ptroglodytes  all identical  ENSPTRG00000007122  9 MSQWTPEYNELYTLKVDMKSEI
Mmulatta  all identical  ENSMMUG00000013089  9 MSQWTPEYNELYTLKVDMKSEI
Fcatus  all identical  ENSFCAG00000009412  9 MSQWTPEYNKLYTLKVDMKSEI
Mmusculus  all identical  ENSMUSG00000032217  9 MSQWTPEFNELYTLKVAMKSGT
Ggallus  no alignment  ENSGALG00000004171  n/a
Trubripes  no alignment  ENSTRUG00000017751  n/a
Drerio  no alignment  ENSDARG00000078802  n/a
Dmelanogaster  no alignment  FBgn0037944  n/a
Celegans  no alignment  W02A11.3  n/a
Xtropicalis  not conserved  ENSXETG00000010842  9 LKKWSTGLVFNHSEKADMKSEV
protein features
start (aa)end (aa)featuredetails 
241404REGIONInteraction with AXIN1.might get lost (downstream of altered splice site)
252464COMPBIASSer-rich.might get lost (downstream of altered splice site)
473473CONFLICTA -> E (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
494523COMPBIASHis-rich.might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 3; AAH60862/AAH20984).might get lost (downstream of altered splice site)
629781COMPBIASPro-rich.might get lost (downstream of altered splice site)
809809CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
931931CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
942983ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
943946TURNmight get lost (downstream of altered splice site)
951953STRANDmight get lost (downstream of altered splice site)
955957STRANDmight get lost (downstream of altered splice site)
963965STRANDmight get lost (downstream of altered splice site)
966975HELIXmight get lost (downstream of altered splice site)
974974CONFLICTI -> V (in Ref. 1; BAD18471).might get lost (downstream of altered splice site)
980982TURNmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2988 / 2988
position (AA) of stopcodon in wt / mu AA sequence 996 / 996
position of stopcodon in wt / mu cDNA 3124 / 3124
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 137 / 137
chromosome 15
strand 1
last intron/exon boundary 3007
theoretical NMD boundary in CDS 2820
length of CDS 2988
coding sequence (CDS) position 27
cDNA position
(for ins/del: last normal base / first normal base)
163
gDNA position
(for ins/del: last normal base / first normal base)
165675
chromosomal position
(for ins/del: last normal base / first normal base)
59323048
original gDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered gDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
original cDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered cDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
wildtype AA sequence MSQWTPEYNE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKRKLHCKQD GEEGTEEDTE EKCTICLSIL EEGEDVRRLP
CMHLFHQVCV DQWLITNKKC PICRVDIEAQ LPSES*
mutated AA sequence MSQWTPEYKE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKRKLHCKQD GEEGTEEDTE EKCTICLSIL EEGEDVRRLP
CMHLFHQVCV DQWLITNKKC PICRVDIEAQ LPSES*
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: 0.949111396485705 (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) chr15:59323048C>GN/A show variant in all transcripts   IGV
HGNC symbol RNF111
Ensembl transcript ID ENST00000557998
Genbank transcript ID NM_001270530
UniProt peptide Q6ZNA4
alteration type single base exchange
alteration region CDS
DNA changes c.27C>G
cDNA.314C>G
g.165675C>G
AA changes N9K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
9
frameshift no
known variant Reference ID: rs2899642
databasehomozygous (G/G)heterozygousallele carriers
1000G204752956
ExAC88381509123929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
0.5690.997
(flanking)0.2270.996
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 increased165668wt: 0.3531 / mu: 0.4127 (marginal change - not scored)wt: CATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCT
mu: CATGTCTCAATGGACTCCTGAATATAAGGAGCTCTACACCT
 ctga|ATAT
Donor gained1656690.98mu: CCTGAATATAAGGAG TGAA|tata
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSQWTPEYNELYTLKVDMKSE
mutated  not conserved    9 MSQWTPEYKELYTLKVDMKSEI
Ptroglodytes  all identical  ENSPTRG00000007122  9 MSQWTPEYNELYTLKVDMKSEI
Mmulatta  all identical  ENSMMUG00000013089  9 MSQWTPEYNELYTLKVDMKSEI
Fcatus  all identical  ENSFCAG00000009412  9 MSQWTPEYNKLYTLKVDMKSEI
Mmusculus  all identical  ENSMUSG00000032217  9 MSQWTPEFNELYTLKVAMKSGT
Ggallus  no alignment  ENSGALG00000004171  n/a
Trubripes  no alignment  ENSTRUG00000017751  n/a
Drerio  no alignment  ENSDARG00000078802  n/a
Dmelanogaster  no alignment  FBgn0037944  n/a
Celegans  no alignment  W02A11.3  n/a
Xtropicalis  not conserved  ENSXETG00000010842  9 LKKWSTGLVFNHSEKADMKSEV
protein features
start (aa)end (aa)featuredetails 
241404REGIONInteraction with AXIN1.might get lost (downstream of altered splice site)
252464COMPBIASSer-rich.might get lost (downstream of altered splice site)
473473CONFLICTA -> E (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
494523COMPBIASHis-rich.might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 3; AAH60862/AAH20984).might get lost (downstream of altered splice site)
629781COMPBIASPro-rich.might get lost (downstream of altered splice site)
809809CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
931931CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
942983ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
943946TURNmight get lost (downstream of altered splice site)
951953STRANDmight get lost (downstream of altered splice site)
955957STRANDmight get lost (downstream of altered splice site)
963965STRANDmight get lost (downstream of altered splice site)
966975HELIXmight get lost (downstream of altered splice site)
974974CONFLICTI -> V (in Ref. 1; BAD18471).might get lost (downstream of altered splice site)
980982TURNmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2985 / 2985
position (AA) of stopcodon in wt / mu AA sequence 995 / 995
position of stopcodon in wt / mu cDNA 3272 / 3272
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 288 / 288
chromosome 15
strand 1
last intron/exon boundary 3155
theoretical NMD boundary in CDS 2817
length of CDS 2985
coding sequence (CDS) position 27
cDNA position
(for ins/del: last normal base / first normal base)
314
gDNA position
(for ins/del: last normal base / first normal base)
165675
chromosomal position
(for ins/del: last normal base / first normal base)
59323048
original gDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered gDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
original cDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered cDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
wildtype AA sequence MSQWTPEYNE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTRAHE RPPPHPHRMH
PNYGHGHHIH VPQTMSSHPR QAPERSAWEL GIEAGVTAAT YTPGALHPHL AHYHAPPRLH
HLQLGALPLM VPDMAGYPHI RYISSGLDGT SFRGPFRGNF EELIHLEERL GNVNRGASQG
TIERCTYPHK YKKVTTDWFS QRKLHCKQDG EEGTEEDTEE KCTICLSILE EGEDVRRLPC
MHLFHQVCVD QWLITNKKCP ICRVDIEAQL PSES*
mutated AA sequence MSQWTPEYKE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTRAHE RPPPHPHRMH
PNYGHGHHIH VPQTMSSHPR QAPERSAWEL GIEAGVTAAT YTPGALHPHL AHYHAPPRLH
HLQLGALPLM VPDMAGYPHI RYISSGLDGT SFRGPFRGNF EELIHLEERL GNVNRGASQG
TIERCTYPHK YKKVTTDWFS QRKLHCKQDG EEGTEEDTEE KCTICLSILE EGEDVRRLPC
MHLFHQVCVD QWLITNKKCP ICRVDIEAQL PSES*
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: 0.949111396485705 (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) chr15:59323048C>GN/A show variant in all transcripts   IGV
HGNC symbol RNF111
Ensembl transcript ID ENST00000561186
Genbank transcript ID N/A
UniProt peptide Q6ZNA4
alteration type single base exchange
alteration region CDS
DNA changes c.27C>G
cDNA.27C>G
g.165675C>G
AA changes N9K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
9
frameshift no
known variant Reference ID: rs2899642
databasehomozygous (G/G)heterozygousallele carriers
1000G204752956
ExAC88381509123929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
0.5690.997
(flanking)0.2270.996
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 increased165668wt: 0.3531 / mu: 0.4127 (marginal change - not scored)wt: CATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCT
mu: CATGTCTCAATGGACTCCTGAATATAAGGAGCTCTACACCT
 ctga|ATAT
Donor gained1656690.98mu: CCTGAATATAAGGAG TGAA|tata
distance from splice site 27
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSQWTPEYNELYTLKVDMKSE
mutated  not conserved    9 MSQWTPEYKELYTLKVDMKSEI
Ptroglodytes  all identical  ENSPTRG00000007122  9 MSQWTPEYNELYTLKVDMKSEI
Mmulatta  all identical  ENSMMUG00000013089  9 MSQWTPEYNELYTLKVDMKSEI
Fcatus  all identical  ENSFCAG00000009412  9 MSQWTPEYNKLYTLKVDMKSEI
Mmusculus  all identical  ENSMUSG00000032217  9 MSQWTPEFNELYTLKVAMKSGT
Ggallus  no alignment  ENSGALG00000004171  n/a
Trubripes  no alignment  ENSTRUG00000017751  n/a
Drerio  no alignment  ENSDARG00000078802  n/a
Dmelanogaster  no alignment  FBgn0037944  n/a
Celegans  no alignment  W02A11.3  n/a
Xtropicalis  not conserved  ENSXETG00000010842  9 LKKWSTGLVFNHSEKADMKSEV
protein features
start (aa)end (aa)featuredetails 
241404REGIONInteraction with AXIN1.might get lost (downstream of altered splice site)
252464COMPBIASSer-rich.might get lost (downstream of altered splice site)
473473CONFLICTA -> E (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
494523COMPBIASHis-rich.might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 3; AAH60862/AAH20984).might get lost (downstream of altered splice site)
629781COMPBIASPro-rich.might get lost (downstream of altered splice site)
809809CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
931931CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
942983ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
943946TURNmight get lost (downstream of altered splice site)
951953STRANDmight get lost (downstream of altered splice site)
955957STRANDmight get lost (downstream of altered splice site)
963965STRANDmight get lost (downstream of altered splice site)
966975HELIXmight get lost (downstream of altered splice site)
974974CONFLICTI -> V (in Ref. 1; BAD18471).might get lost (downstream of altered splice site)
980982TURNmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3012 / 3012
position (AA) of stopcodon in wt / mu AA sequence 1004 / 1004
position of stopcodon in wt / mu cDNA 3012 / 3012
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 15
strand 1
last intron/exon boundary 2895
theoretical NMD boundary in CDS 2844
length of CDS 3012
coding sequence (CDS) position 27
cDNA position
(for ins/del: last normal base / first normal base)
27
gDNA position
(for ins/del: last normal base / first normal base)
165675
chromosomal position
(for ins/del: last normal base / first normal base)
59323048
original gDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered gDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
original cDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered cDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
wildtype AA sequence MSQWTPEYNE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKVTTDWFSQ RKLHCKQDGE EGTEEDTEEK CTICLSILEE
GEDVRRLPCM HLFHQVCVDQ WLITNKKCPI CRVDIEAQLP SES*
mutated AA sequence MSQWTPEYKE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKVTTDWFSQ RKLHCKQDGE EGTEEDTEEK CTICLSILEE
GEDVRRLPCM HLFHQVCVDQ WLITNKKCPI CRVDIEAQLP SES*
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

polymorphism

Model: simple_aae, prob: 0.949111396485705 (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) chr15:59323048C>GN/A show variant in all transcripts   IGV
HGNC symbol RNF111
Ensembl transcript ID ENST00000434298
Genbank transcript ID N/A
UniProt peptide Q6ZNA4
alteration type single base exchange
alteration region CDS
DNA changes c.27C>G
cDNA.449C>G
g.165675C>G
AA changes N9K Score: 94 explain score(s)
position(s) of altered AA
if AA alteration in CDS
9
frameshift no
known variant Reference ID: rs2899642
databasehomozygous (G/G)heterozygousallele carriers
1000G204752956
ExAC88381509123929
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9me1, Histone, Histone 3 Lysine 9 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.0671
0.5690.997
(flanking)0.2270.996
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 increased165668wt: 0.3531 / mu: 0.4127 (marginal change - not scored)wt: CATGTCTCAATGGACTCCTGAATATAACGAGCTCTACACCT
mu: CATGTCTCAATGGACTCCTGAATATAAGGAGCTCTACACCT
 ctga|ATAT
Donor gained1656690.98mu: CCTGAATATAAGGAG TGAA|tata
distance from splice site 46
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MSQWTPEYNELYTLKVDMKSE
mutated  not conserved    9 MSQWTPEYKELYTLKVDMKSEI
Ptroglodytes  all identical  ENSPTRG00000007122  9 MSQWTPEYNELYTLKVDMKSEI
Mmulatta  all identical  ENSMMUG00000013089  9 MSQWTPEYNELYTLKVDMKSEI
Fcatus  all identical  ENSFCAG00000009412  9 MSQWTPEYNKLYTLKVDMKSEI
Mmusculus  all identical  ENSMUSG00000032217  9 MSQWTPEFNELYTLKVAMKSGT
Ggallus  no alignment  ENSGALG00000004171  n/a
Trubripes  no alignment  ENSTRUG00000017751  n/a
Drerio  no alignment  ENSDARG00000078802  n/a
Dmelanogaster  no alignment  FBgn0037944  n/a
Celegans  no alignment  W02A11.3  n/a
Xtropicalis  not conserved  ENSXETG00000010842  9 LKKWSTGLVFNHSEKADMKSEV
protein features
start (aa)end (aa)featuredetails 
241404REGIONInteraction with AXIN1.might get lost (downstream of altered splice site)
252464COMPBIASSer-rich.might get lost (downstream of altered splice site)
473473CONFLICTA -> E (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
494523COMPBIASHis-rich.might get lost (downstream of altered splice site)
562562CONFLICTMissing (in Ref. 3; AAH60862/AAH20984).might get lost (downstream of altered splice site)
629781COMPBIASPro-rich.might get lost (downstream of altered splice site)
809809CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
931931CONFLICTE -> G (in Ref. 2; CAD98031).might get lost (downstream of altered splice site)
942983ZN_FINGRING-type; atypical.might get lost (downstream of altered splice site)
943946TURNmight get lost (downstream of altered splice site)
951953STRANDmight get lost (downstream of altered splice site)
955957STRANDmight get lost (downstream of altered splice site)
963965STRANDmight get lost (downstream of altered splice site)
966975HELIXmight get lost (downstream of altered splice site)
974974CONFLICTI -> V (in Ref. 1; BAD18471).might get lost (downstream of altered splice site)
980982TURNmight get lost (downstream of altered splice site)
984986STRANDmight get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3012 / 3012
position (AA) of stopcodon in wt / mu AA sequence 1004 / 1004
position of stopcodon in wt / mu cDNA 3434 / 3434
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 423 / 423
chromosome 15
strand 1
last intron/exon boundary 3317
theoretical NMD boundary in CDS 2844
length of CDS 3012
coding sequence (CDS) position 27
cDNA position
(for ins/del: last normal base / first normal base)
449
gDNA position
(for ins/del: last normal base / first normal base)
165675
chromosomal position
(for ins/del: last normal base / first normal base)
59323048
original gDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered gDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
original cDNA sequence snippet CAATGGACTCCTGAATATAACGAGCTCTACACCTTAAAAGT
altered cDNA sequence snippet CAATGGACTCCTGAATATAAGGAGCTCTACACCTTAAAAGT
wildtype AA sequence MSQWTPEYNE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKVTTDWFSQ RKLHCKQDGE EGTEEDTEEK CTICLSILEE
GEDVRRLPCM HLFHQVCVDQ WLITNKKCPI CRVDIEAQLP SES*
mutated AA sequence MSQWTPEYKE LYTLKVDMKS EIPSDAPKTQ ESLKGILLHP EPIGAAKSFP AGVEMINSKV
GNEFSHLCDD SQKQEKEMNG NQQEQEKSLV VRKKRKSQQA GPSYVQNCVK ENQGILGLRQ
HLGTPSDEDN DSSFSDCLSS PSSSLHFGDS DTVTSDEDKE VSVRHSQTIL NAKSRSHSAR
SHKWPRTETE SVSGLLMKRP CLHGSSLRRL PCRKRFVKNN SSQRTQKQKE RILMQRKKRE
VLARRKYALL PSSSSSSEND LSSESSSSSS TEGEEDLFVS ASENHQNNPA VPSGSIDEDV
VVIEASSTPQ VTANEEINVT STDSEVEIVT VGESYRSRST LGHSRSHWSQ GSSSHASRPQ
EPRNRSRIST VIQPLRQNAA EVVDLTVDED EPTVVPTTSA RMESQATSAS INNSNPSTSE
QASDTASAVT SSQPSTVSET SATLTSNSTT GTSIGDDSRR TTSSAVTETG PPAMPRLPSC
CPQHSPCGGS SQNHHALGHP HTSCFQQHGH HFQHHHHHHH TPHPAVPVSP SFSDPACPVE
RPPQVQAPCG ANSSSGTSYH EQQALPVDLS NSGIRSHGSG SFHGASAFDP CCPVSSSRAA
IFGHQAAAAA PSQPLSSIDG YGSSMVAQPQ PQPPPQPSLS SCRHYMPPPY ASLTRPLHHQ
ASACPHSHGN PPPQTQPPPQ VDYVIPHPVH AFHSQISSHA TSHPVAPPPP THLASTAAPI
PQHLPPTHQP ISHHIPATAP PAQRLHPHEV MQRMEVQRRR MMQHPTGLFV FCVSRRAHER
PPPHPHRMHP NYGHGHHIHV PQTMSSHPRQ APERSAWELG IEAGVTAATY TPGALHPHLA
HYHAPPRLHH LQLGALPLMV PDMAGYPHIR YISSGLDGTS FRGPFRGNFE ELIHLEERLG
NVNRGASQGT IERCTYPHKY KKVTTDWFSQ RKLHCKQDGE EGTEEDTEEK CTICLSILEE
GEDVRRLPCM HLFHQVCVDQ WLITNKKCPI CRVDIEAQLP SES*
speed 0.91 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