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: ENST00000370018
Querying Taster for transcript #2: ENST00000508582
Querying Taster for transcript #3: ENST00000360203
Querying Taster for transcript #4: ENST00000370003
Querying Taster for transcript #5: ENST00000318100
MT speed 0 s - this script 6.278414 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
RTEL1polymorphism_automatic2.79776202205539e-14simple_aaeaffectedQ1042Hsingle base exchangers3208008show file
RTEL1polymorphism_automatic2.79776202205539e-14simple_aaeaffectedQ1042Hsingle base exchangers3208008show file
RTEL1polymorphism_automatic2.79776202205539e-14simple_aaeaffectedQ1066Hsingle base exchangers3208008show file
RTEL1polymorphism_automatic2.79776202205539e-14simple_aaeaffectedQ1042Hsingle base exchangers3208008show file
RTEL1polymorphism_automatic4.69624339416441e-14simple_aaeaffectedQ287Hsingle base exchangers3208008show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:62326110A>CN/A show variant in all transcripts   IGV
HGNC symbol RTEL1
Ensembl transcript ID ENST00000370018
Genbank transcript ID NM_016434
UniProt peptide Q9NZ71
alteration type single base exchange
alteration region CDS
DNA changes c.3126A>C
cDNA.3953A>C
g.36948A>C
AA changes Q1042H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1042
frameshift no
known variant Reference ID: rs3208008
databasehomozygous (C/C)heterozygousallele carriers
1000G14867182204
ExAC---
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0420
-1.9750
(flanking)0.8150.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased36947wt: 0.23 / mu: 0.30wt: CAGCCAACCACAGTG
mu: CAGCCACCCACAGTG		 GCCA|acca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1042PRPPPTGDPGSQPQWGSGVPRAGK
mutated  not conserved    1042PRPPPTGDPGSHPQWGSGVPRAG
Ptroglodytes  not conserved  ENSPTRG00000013746  1043PRPPPTGDPGSHPQWGSGVPRAG
Mmulatta  no alignment  ENSMMUG00000000167  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038685  1025AHPTSKAH-FSKPGHTSHCTKVGCAVE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035074  1048TIQLNGGEVNVRSE--EQKPQTS
Dmelanogaster  no alignment  FBgn0029798  n/a
Celegans  no alignment  F25H2.13  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3660 / 3660
position (AA) of stopcodon in wt / mu AA sequence 1220 / 1220
position of stopcodon in wt / mu cDNA 4487 / 4487
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 828 / 828
chromosome 20
strand 1
last intron/exon boundary 4480
theoretical NMD boundary in CDS 3602
length of CDS 3660
coding sequence (CDS) position 3126
cDNA position
(for ins/del: last normal base / first normal base)		 3953
gDNA position
(for ins/del: last normal base / first normal base)		 36948
chromosomal position
(for ins/del: last normal base / first normal base)		 62326110
original gDNA sequence snippet CCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered gDNA sequence snippet CCAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
original cDNA sequence snippet ACAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered cDNA sequence snippet ACAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
wildtype AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
HLNQGRPHLS PRPPPTGDPG SQPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
GPSQSSGPPH GPAASEWGL*
mutated AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
HLNQGRPHLS PRPPPTGDPG SHPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
GPSQSSGPPH GPAASEWGL*
speed 1.42 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: 0.999999999999972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:62326110A>CN/A show variant in all transcripts   IGV
HGNC symbol RTEL1
Ensembl transcript ID ENST00000360203
Genbank transcript ID N/A
UniProt peptide Q9NZ71
alteration type single base exchange
alteration region CDS
DNA changes c.3126A>C
cDNA.3451A>C
g.36948A>C
AA changes Q1042H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1042
frameshift no
known variant Reference ID: rs3208008
databasehomozygous (C/C)heterozygousallele carriers
1000G14867182204
ExAC---
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0420
-1.9750
(flanking)0.8150.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased36947wt: 0.23 / mu: 0.30wt: CAGCCAACCACAGTG
mu: CAGCCACCCACAGTG		 GCCA|acca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1042PRPPPTGDPGSQPQWGSGVPRAGK
mutated  not conserved    1042PRPPPTGDPGSHPQWGSGVPRAG
Ptroglodytes  not conserved  ENSPTRG00000013746  1043PRPPPTGDPGSHPQWGSGVPRAG
Mmulatta  no alignment  ENSMMUG00000000167  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038685  1025AHPTSKAH-FSKPGHTSHCTKVGCAVE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035074  1048TIQLNGGEVNVRSE--EQKPQTS
Dmelanogaster  no alignment  FBgn0029798  n/a
Celegans  no alignment  F25H2.13  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3903 / 3903
position (AA) of stopcodon in wt / mu AA sequence 1301 / 1301
position of stopcodon in wt / mu cDNA 4228 / 4228
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 326 / 326
chromosome 20
strand 1
last intron/exon boundary 4148
theoretical NMD boundary in CDS 3772
length of CDS 3903
coding sequence (CDS) position 3126
cDNA position
(for ins/del: last normal base / first normal base)		 3451
gDNA position
(for ins/del: last normal base / first normal base)		 36948
chromosomal position
(for ins/del: last normal base / first normal base)		 62326110
original gDNA sequence snippet CCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered gDNA sequence snippet CCAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
original cDNA sequence snippet ACAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered cDNA sequence snippet ACAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
wildtype AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
HLNQGRPHLS PRPPPTGDPG SQPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
GPSQSSGPPH GPAASEWGEP HGRDIAGQQA TGAPGGPLSA GCVCQGCGAE DVVPFQCPAC
DFQRCQACWQ RHLQASRMCP ACHTASRKQS VMQVFWPEPQ *
mutated AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
HLNQGRPHLS PRPPPTGDPG SHPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
GPSQSSGPPH GPAASEWGEP HGRDIAGQQA TGAPGGPLSA GCVCQGCGAE DVVPFQCPAC
DFQRCQACWQ RHLQASRMCP ACHTASRKQS VMQVFWPEPQ *
speed 1.37 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: 0.999999999999972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:62326110A>CN/A show variant in all transcripts   IGV
HGNC symbol RTEL1
Ensembl transcript ID ENST00000508582
Genbank transcript ID NM_032957
UniProt peptide Q9NZ71
alteration type single base exchange
alteration region CDS
DNA changes c.3198A>C
cDNA.3544A>C
g.36948A>C
AA changes Q1066H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1066
frameshift no
known variant Reference ID: rs3208008
databasehomozygous (C/C)heterozygousallele carriers
1000G14867182204
ExAC---
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0420
-1.9750
(flanking)0.8150.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased36947wt: 0.23 / mu: 0.30wt: CAGCCAACCACAGTG
mu: CAGCCACCCACAGTG		 GCCA|acca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1066PRPPPTGDPGSQPQWGSGVPRAGK
mutated  not conserved    1066PRPPPTGDPGSHPQWGSGVPRAG
Ptroglodytes  not conserved  ENSPTRG00000013746  1043PRPPPTGDPGSHPQWGSGVPRAG
Mmulatta  no alignment  ENSMMUG00000000167  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038685  1027AHPTSKAH-FSKPGHTSHCTKVGCA
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035074  1048RSE--EQKPQTS
Dmelanogaster  no alignment  FBgn0029798  n/a
Celegans  no alignment  F25H2.13  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3732 / 3732
position (AA) of stopcodon in wt / mu AA sequence 1244 / 1244
position of stopcodon in wt / mu cDNA 4078 / 4078
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 347 / 347
chromosome 20
strand 1
last intron/exon boundary 4071
theoretical NMD boundary in CDS 3674
length of CDS 3732
coding sequence (CDS) position 3198
cDNA position
(for ins/del: last normal base / first normal base)		 3544
gDNA position
(for ins/del: last normal base / first normal base)		 36948
chromosomal position
(for ins/del: last normal base / first normal base)		 62326110
original gDNA sequence snippet CCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered gDNA sequence snippet CCAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
original cDNA sequence snippet ACAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered cDNA sequence snippet ACAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
wildtype AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRSRCRATLW VLETAPPRPT VLSPTRPKVC VLGSREQLCI HPEVKKQESN
HLQIHLCRKK VASRSCHFYN NVEEKSLEQE LASPILDIED LVKSGSKHRV CPYYLSRNLK
QQADIIFMPY NYLLDAKSRR AHNIDLKGTV VIFDEAHNVE KMCEESASFD LTPHDLASGL
DVIDQVLEEQ TKAAQQGEPH PEFSADSPSP GLNMELEDIA KLKMILLRLE GAIDAVELPG
DDSGVTKPGS YIFELFAEAQ ITFQTKGCIL DSLDQIIQHL AGRAGVFTNT AGLQKLADII
QIVFSVDPSE GSPGSPAGLG ALQSYKVHIH PDAGHRRTAQ RSDAWSTTAA RKRGKVLSYW
CFSPGHSMHE LVRQGVRSLI LTSGTLAPVS SFALEMQIPF PVCLENPHII DKHQIWVGVV
PRGPDGAQLS SAFDRRFSEE CLSSLGKALG NIARVVPYGL LIFFPSYPVM EKSLEFWRAR
DLARKMEALK PLFVEPRSKG SFSETISAYY ARVAAPGSTG ATFLAVCRGK ASEGLDFSDT
NGRGVIVTGL PYPPRMDPRV VLKMQFLDEM KGQGGAGGQF LSGQEWYRQQ ASRAVNQAIG
RVIRHRQDYG AVFLCDHRFA FADARAQLPS WVRPHVRVYD NFGHVIRDVA QFFRVAERTM
PAPAPRATAP SVRGEDAVSE AKSPGPFFST RKAKSLDLHV PSLKQRSSGS PAAGDPESSL
CVEYEQEPVP ARQRPRGLLA ALEHSEQRAG SPGEEQAHSC STLSLLSEKR PAEEPRGGRK
KIRLVSHPEE PVAGAQTDRA KLFMVAVKQE LSQANFATFT QALQDYKGSD DFAALAACLG
PLFAEDPKKH NLLQGFYQFV RPHHKQQFEE VCIQLTGRGC GYRPEHSIPR RQRAQPVLDP
TGRTAPDPKL TVSTAAAQQL DPQEHLNQGR PHLSPRPPPT GDPGSQPQWG SGVPRAGKQG
QHAVSAYLAD ARRALGSAGC SQLLAALTAY KQDDDLDKVL AVLAALTTAK PEDFPLLHSN
SMFVRPHHKQ RFSQTCTDLT GRPYPGMEPP GPQEERLAVP PVLTHRAPQP GPSRSEKTGK
TQSKISSFLR QRPAGTVGAG GEDAGPSQSS GPPHGPAASE WGL*
mutated AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRSRCRATLW VLETAPPRPT VLSPTRPKVC VLGSREQLCI HPEVKKQESN
HLQIHLCRKK VASRSCHFYN NVEEKSLEQE LASPILDIED LVKSGSKHRV CPYYLSRNLK
QQADIIFMPY NYLLDAKSRR AHNIDLKGTV VIFDEAHNVE KMCEESASFD LTPHDLASGL
DVIDQVLEEQ TKAAQQGEPH PEFSADSPSP GLNMELEDIA KLKMILLRLE GAIDAVELPG
DDSGVTKPGS YIFELFAEAQ ITFQTKGCIL DSLDQIIQHL AGRAGVFTNT AGLQKLADII
QIVFSVDPSE GSPGSPAGLG ALQSYKVHIH PDAGHRRTAQ RSDAWSTTAA RKRGKVLSYW
CFSPGHSMHE LVRQGVRSLI LTSGTLAPVS SFALEMQIPF PVCLENPHII DKHQIWVGVV
PRGPDGAQLS SAFDRRFSEE CLSSLGKALG NIARVVPYGL LIFFPSYPVM EKSLEFWRAR
DLARKMEALK PLFVEPRSKG SFSETISAYY ARVAAPGSTG ATFLAVCRGK ASEGLDFSDT
NGRGVIVTGL PYPPRMDPRV VLKMQFLDEM KGQGGAGGQF LSGQEWYRQQ ASRAVNQAIG
RVIRHRQDYG AVFLCDHRFA FADARAQLPS WVRPHVRVYD NFGHVIRDVA QFFRVAERTM
PAPAPRATAP SVRGEDAVSE AKSPGPFFST RKAKSLDLHV PSLKQRSSGS PAAGDPESSL
CVEYEQEPVP ARQRPRGLLA ALEHSEQRAG SPGEEQAHSC STLSLLSEKR PAEEPRGGRK
KIRLVSHPEE PVAGAQTDRA KLFMVAVKQE LSQANFATFT QALQDYKGSD DFAALAACLG
PLFAEDPKKH NLLQGFYQFV RPHHKQQFEE VCIQLTGRGC GYRPEHSIPR RQRAQPVLDP
TGRTAPDPKL TVSTAAAQQL DPQEHLNQGR PHLSPRPPPT GDPGSHPQWG SGVPRAGKQG
QHAVSAYLAD ARRALGSAGC SQLLAALTAY KQDDDLDKVL AVLAALTTAK PEDFPLLHSN
SMFVRPHHKQ RFSQTCTDLT GRPYPGMEPP GPQEERLAVP PVLTHRAPQP GPSRSEKTGK
TQSKISSFLR QRPAGTVGAG GEDAGPSQSS GPPHGPAASE WGL*
speed 1.55 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: 0.999999999999972 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr20:62326110A>CN/A show variant in all transcripts   IGV
HGNC symbol RTEL1
Ensembl transcript ID ENST00000318100
Genbank transcript ID N/A
UniProt peptide Q9NZ71
alteration type single base exchange
alteration region CDS
DNA changes c.3126A>C
cDNA.3953A>C
g.36948A>C
AA changes Q1042H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1042
frameshift no
known variant Reference ID: rs3208008
databasehomozygous (C/C)heterozygousallele carriers
1000G14867182204
ExAC---
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0420
-1.9750
(flanking)0.8150.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased36947wt: 0.23 / mu: 0.30wt: CAGCCAACCACAGTG
mu: CAGCCACCCACAGTG		 GCCA|acca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1042PRPPPTGDPGSQPQWGSGVPRAGK
mutated  not conserved    1042PRPPPTGDPGSHPQWGSGVPRAG
Ptroglodytes  not conserved  ENSPTRG00000013746  1043PRPPPTGDPGSHPQWGSGVPRAG
Mmulatta  no alignment  ENSMMUG00000000167  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038685  1025AHPTSKAH-FSKPGHTSHCTKVGCAVE
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035074  1048TIQLNGGEVNVRSE--EQKPQTS
Dmelanogaster  no alignment  FBgn0029798  n/a
Celegans  no alignment  F25H2.13  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 4203 / 4203
position (AA) of stopcodon in wt / mu AA sequence 1401 / 1401
position of stopcodon in wt / mu cDNA 5030 / 5030
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 828 / 828
chromosome 20
strand 1
last intron/exon boundary 4727
theoretical NMD boundary in CDS 3849
length of CDS 4203
coding sequence (CDS) position 3126
cDNA position
(for ins/del: last normal base / first normal base)		 3953
gDNA position
(for ins/del: last normal base / first normal base)		 36948
chromosomal position
(for ins/del: last normal base / first normal base)		 62326110
original gDNA sequence snippet CCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered gDNA sequence snippet CCAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
original cDNA sequence snippet ACAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered cDNA sequence snippet ACAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
wildtype AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
HLNQGRPHLS PRPPPTGDPG SQPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
GPSQSSGPPH GPAASEWGEP HGRDIAGQQA TGAPGGPLSA GCVCQGCGAE DVVPFQCPAC
DFQRCQACWQ RHLQASRMCP ACHTASRKQS VMQVFWPEPH KDHEGAGGAR PVAAVPGVGA
ACPAAGAGCT RSGRNTHLPL AGRRDRGAAG VRPVPPRHLC AAAVPPRQPH DVWPVSTAPL
HAVLELPRAL PLLQRPLRGA *
mutated AA sequence MPKIVLNGVT VDFPFQPYKC QQEYMTKVLE CLQQKVNGIL ESPTGTGKTL CLLCTTLAWR
EHLRDGISAR KIAERAQGEL FPDRALSSWG NAAAAAGDPI ACYTDIPKII YASRTHSQLT
QVINELRNTS YRPKVCVLGS REQLCIHPEV KKQESNHLQI HLCRKKVASR SCHFYNNVEE
KSLEQELASP ILDIEDLVKS GSKHRVCPYY LSRNLKQQAD IIFMPYNYLL DAKSRRAHNI
DLKGTVVIFD EAHNVEKMCE ESASFDLTPH DLASGLDVID QVLEEQTKAA QQGEPHPEFS
ADSPSPGLNM ELEDIAKLKM ILLRLEGAID AVELPGDDSG VTKPGSYIFE LFAEAQITFQ
TKGCILDSLD QIIQHLAGRA GVFTNTAGLQ KLADIIQIVF SVDPSEGSPG SPAGLGALQS
YKVHIHPDAG HRRTAQRSDA WSTTAARKRG KVLSYWCFSP GHSMHELVRQ GVRSLILTSG
TLAPVSSFAL EMQIPFPVCL ENPHIIDKHQ IWVGVVPRGP DGAQLSSAFD RRFSEECLSS
LGKALGNIAR VVPYGLLIFF PSYPVMEKSL EFWRARDLAR KMEALKPLFV EPRSKGSFSE
TISAYYARVA APGSTGATFL AVCRGKASEG LDFSDTNGRG VIVTGLPYPP RMDPRVVLKM
QFLDEMKGQG GAGGQFLSGQ EWYRQQASRA VNQAIGRVIR HRQDYGAVFL CDHRFAFADA
RAQLPSWVRP HVRVYDNFGH VIRDVAQFFR VAERTMPAPA PRATAPSVRG EDAVSEAKSP
GPFFSTRKAK SLDLHVPSLK QRSSGSPAAG DPESSLCVEY EQEPVPARQR PRGLLAALEH
SEQRAGSPGE EQAHSCSTLS LLSEKRPAEE PRGGRKKIRL VSHPEEPVAG AQTDRAKLFM
VAVKQELSQA NFATFTQALQ DYKGSDDFAA LAACLGPLFA EDPKKHNLLQ GFYQFVRPHH
KQQFEEVCIQ LTGRGCGYRP EHSIPRRQRA QPVLDPTGRT APDPKLTVST AAAQQLDPQE
HLNQGRPHLS PRPPPTGDPG SHPQWGSGVP RAGKQGQHAV SAYLADARRA LGSAGCSQLL
AALTAYKQDD DLDKVLAVLA ALTTAKPEDF PLLHRFSMFV RPHHKQRFSQ TCTDLTGRPY
PGMEPPGPQE ERLAVPPVLT HRAPQPGPSR SEKTGKTQSK ISSFLRQRPA GTVGAGGEDA
GPSQSSGPPH GPAASEWGEP HGRDIAGQQA TGAPGGPLSA GCVCQGCGAE DVVPFQCPAC
DFQRCQACWQ RHLQASRMCP ACHTASRKQS VMQVFWPEPH KDHEGAGGAR PVAAVPGVGA
ACPAAGAGCT RSGRNTHLPL AGRRDRGAAG VRPVPPRHLC AAAVPPRQPH DVWPVSTAPL
HAVLELPRAL PLLQRPLRGA *
speed 1.34 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: 0.999999999999953 (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) chr20:62326110A>CN/A show variant in all transcripts   IGV
HGNC symbol RTEL1
Ensembl transcript ID ENST00000370003
Genbank transcript ID N/A
UniProt peptide Q9NZ71
alteration type single base exchange
alteration region CDS
DNA changes c.861A>C
cDNA.1106A>C
g.36948A>C
AA changes Q287H Score: 24 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 287
frameshift no
known variant Reference ID: rs3208008
databasehomozygous (C/C)heterozygousallele carriers
1000G14867182204
ExAC---
regulatory features PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H2BK5me1, Histone, Histone 2B Lysine 5 mono-methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.0420
-1.9750
(flanking)0.8150.001
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased36947wt: 0.23 / mu: 0.30wt: CAGCCAACCACAGTG
mu: CAGCCACCCACAGTG		 GCCA|acca
distance from splice site 17
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      287PRPPPTGDPGSQPQWGSGVPRAGK
mutated  not conserved    287PRPPPTGDPGSHPQWGSGVPRAG
Ptroglodytes  not conserved  ENSPTRG00000013746  1043PRPPPTGDPGSHPQWGSGVPRAG
Mmulatta  no alignment  ENSMMUG00000000167  n/a
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000038685  1028AHPTSKAH-FSKPGHTSHCTKVGC
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000035074  1048TIQLNGGEVNVRSE--EQKPQTS
Dmelanogaster  no alignment  FBgn0029798  n/a
Celegans  no alignment  F25H2.13  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7296DOMAINHelicase ATP-binding.lost
845845CONFLICTA -> V (in Ref. 5; BAG63785).might get lost (downstream of altered splice site)
871877MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
929929CONFLICTA -> T (in Ref. 5; BAG63785).might get lost (downstream of altered splice site)
986986CONFLICTR -> Q (in Ref. 5; BAG61337).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1638 / 1638
position (AA) of stopcodon in wt / mu AA sequence 546 / 546
position of stopcodon in wt / mu cDNA 1883 / 1883
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 246 / 246
chromosome 20
strand 1
last intron/exon boundary 1803
theoretical NMD boundary in CDS 1507
length of CDS 1638
coding sequence (CDS) position 861
cDNA position
(for ins/del: last normal base / first normal base)		 1106
gDNA position
(for ins/del: last normal base / first normal base)		 36948
chromosomal position
(for ins/del: last normal base / first normal base)		 62326110
original gDNA sequence snippet CCAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered gDNA sequence snippet CCAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
original cDNA sequence snippet ACAGGAGACCCTGGCAGCCAACCACAGTGGGGGTCTGGAGT
altered cDNA sequence snippet ACAGGAGACCCTGGCAGCCACCCACAGTGGGGGTCTGGAGT
wildtype AA sequence MPAPAPRATA PSVRGEDAVS EAKSPGPFFS TRKAKSLDLH VPSLKQRSSG SPAAGDPESS
LCVEYEQEPV PARQRPRGLL AALEHSEQRA GSPGEEQAHS CSTLSLLSEK RPAEEPRGGR
KKIRLVSHPE EPVAGAQTDR AKLFMVAVKQ ELSQANFATF TQALQDYKGS DDFAALAACL
GPLFAEDPKK HNLLQGFYQF VRPHHKQQFE EVCIQLTGRG CGYRPEHSIP RRQRAQPVLD
PTGRTAPDPK LTVSTAAAQQ LDPQEHLNQG RPHLSPRPPP TGDPGSQPQW GSGVPRAGKQ
GQHAVSAYLA DARRALGSAG CSQLLAALTA YKQDDDLDKV LAVLAALTTA KPEDFPLLHR
FSMFVRPHHK QRFSQTCTDL TGRPYPGMEP PGPQEERLAV PPVLTHRAPQ PGPSRSEKTG
KTQSKISSFL RQRPAGTVGA GGEDAGPSQS SGPPHGPAAS EWGEPHGRDI AGQQATGAPG
GPLSAGCVCQ GCGAEDVVPF QCPACDFQRC QACWQRHLQA SRMCPACHTA SRKQSVMQVF
WPEPQ*
mutated AA sequence MPAPAPRATA PSVRGEDAVS EAKSPGPFFS TRKAKSLDLH VPSLKQRSSG SPAAGDPESS
LCVEYEQEPV PARQRPRGLL AALEHSEQRA GSPGEEQAHS CSTLSLLSEK RPAEEPRGGR
KKIRLVSHPE EPVAGAQTDR AKLFMVAVKQ ELSQANFATF TQALQDYKGS DDFAALAACL
GPLFAEDPKK HNLLQGFYQF VRPHHKQQFE EVCIQLTGRG CGYRPEHSIP RRQRAQPVLD
PTGRTAPDPK LTVSTAAAQQ LDPQEHLNQG RPHLSPRPPP TGDPGSHPQW GSGVPRAGKQ
GQHAVSAYLA DARRALGSAG CSQLLAALTA YKQDDDLDKV LAVLAALTTA KPEDFPLLHR
FSMFVRPHHK QRFSQTCTDL TGRPYPGMEP PGPQEERLAV PPVLTHRAPQ PGPSRSEKTG
KTQSKISSFL RQRPAGTVGA GGEDAGPSQS SGPPHGPAAS EWGEPHGRDI AGQQATGAPG
GPLSAGCVCQ GCGAEDVVPF QCPACDFQRC QACWQRHLQA SRMCPACHTA SRKQSVMQVF
WPEPQ*
speed 1.37 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