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: ENST00000566586
Querying Taster for transcript #2: ENST00000570161
Querying Taster for transcript #3: ENST00000219905
Querying Taster for transcript #4: ENST00000389936
Querying Taster for transcript #5: ENST00000545763
MT speed 0 s - this script 4.270745 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MGApolymorphism_automatic0.687889661208751simple_aaeP1523Asingle base exchangers17677991show file
MGApolymorphism_automatic0.687889661208751simple_aaeP1523Asingle base exchangers17677991show file
MGApolymorphism_automatic0.687889661208751simple_aaeP1523Asingle base exchangers17677991show file
MGApolymorphism_automatic0.687889661208751simple_aaeP1523Asingle base exchangers17677991show file
MGApolymorphism_automatic0.687889661208751simple_aaeP1523Asingle base exchangers17677991show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.312110338791249 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:42032383C>GN/A show variant in all transcripts   IGV
HGNC symbol MGA
Ensembl transcript ID ENST00000566586
Genbank transcript ID N/A
UniProt peptide Q8IWI9
alteration type single base exchange
alteration region CDS
DNA changes c.4567C>G
cDNA.4634C>G
g.118962C>G
AA changes P1523A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1523
frameshift no
known variant Reference ID: rs17677991
databasehomozygous (G/G)heterozygousallele carriers
1000G2639831246
ExAC70221872325745
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8121
1.0120.998
(flanking)3.0370.995
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 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1523NRPGKNLKAFVPAKRPIENAAQIP
mutated  not conserved    1523NRPGKNLKAFVAAKRPIENAAQI
Ptroglodytes  all identical  ENSPTRG00000006953  1526NRPGKNLKAFVPAKRPIAARPSPGGVFTQFVMSKVGALQQKI
Mmulatta  no alignment  ENSMMUG00000010168  n/a
Fcatus  all identical  ENSFCAG00000007347  1738GIDGSP-----PVSQRP
Mmusculus  all identical  ENSMUSG00000033943  1516NRSGKNLKAFVPAKRPI------
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078784  1699SVSKSLAARSPLEKVFSQFVVN
Dmelanogaster  no homologue    
Celegans  no alignment  T07C4.2  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 8571 / 8571
position (AA) of stopcodon in wt / mu AA sequence 2857 / 2857
position of stopcodon in wt / mu cDNA 8638 / 8638
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 68 / 68
chromosome 15
strand 1
last intron/exon boundary 7362
theoretical NMD boundary in CDS 7244
length of CDS 8571
coding sequence (CDS) position 4567
cDNA position
(for ins/del: last normal base / first normal base)		 4634
gDNA position
(for ins/del: last normal base / first normal base)		 118962
chromosomal position
(for ins/del: last normal base / first normal base)		 42032383
original gDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGGT
altered gDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGGT
original cDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGAA
altered cDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGAA
wildtype AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVPAKRPIEN AAQIPVATPQ VSPNTVKRAG PRLLLIPVQQ
GSPTLRPVSN TQLQGHRMVL QPVRSPSGMN LFRHPNGQIV QLLPLHQLRG SNTQPNLQPV
MFRNPGSVMG IRLPAPSKPS ETPPSSTSSS AFSVMNPVIQ AVGSSSAVNV ITQAPSLLSS
GASFVSQAGT LTLRISPPEP QSFASKTGSE TKITYSSGGQ PVGTASLIPL QSGSFALLQL
PGQKPVPSSI LQHVASLQMK RESQNPDQKD ETNSIKREQE TKKVLQSEGE AVDPEANVIK
QNSGAATSEE TLNDSLEDRG DHLDEECLPE EGCATVKPSE HSCITGSHTD QDYKDVNEEY
GARNRKSSKE KVAVLEVRTI SEKASNKTVQ NLSKVQHQKL GDVKVEQQKG FDNPEENSSE
FPVTFKEESK FELSGSKVME QQSNLQPEAK EKECGDSLEK DRERWRKHLK GPLTRKCVGA
SQECKKEADE QLIKETKTCQ ENSDVFQQEQ GISDLLGKSG ITEDARVLKT ECDSWSRISN
PSAFSIVPRR AAKSSRGNGH FQGHLLLPGE QIQPKQEKKG GRSSADFTVL DLEEDDEDDN
EKTDDSIDEI VDVVSDYQSE EVDDVEKNNC VEYIEDDEEH VDIETVEELS EEINVAHLKT
TAAHTQSFKQ PSCTHISADE KAAERSRKAP PIPLKLKPDY WSDKLQKEAE AFAYYRRTHT
ANERRRRGEM RDLFEKLKIT LGLLHSSKVS KSLILTRAFS EIQGLTDQAD KLIGQKNLLT
RKRNILIRKV SSLSGKTEEV VLKKLEYIYA KQQALEAQKR KKKMGSDEFD ISPRISKQQE
GSSASSVDLG QMFINNRRGK PLILSRKKDQ ATENTSPLNT PHTSANLVMT PQGQLLTLKG
PLFSGPVVAV SPDLLESDLK PQVAGSAVAL PENDDLFMMP RIVNVTSLAT EGGLVDMGGS
KYPHEVPDSK PSDHLKDTVR NEDNSLEDKG RISSRGNRDG RVTLGPTQVF LANKDSGYPQ
IVDVSNMQKA QEFLPKKISG DMRGIQYKWK ESESRGERVK SKDSSFHKLK MKDLKDSSIE
MELRKVTSAI EEAALDSSEL LTNMEDEDDT DETLTSLLNE IAFLNQQLND DSVGLAELPS
SMDTEFPGDA RRAFISKVPP GSRATFQVEH LGTGLKELPD VQGESDSISP LLLHLEDDDF
SENEKQLAEP ASEPDVLKIV IDSEIKDSLL SNKKAIDGGK NTSGLPAEPE SVSSPPTLHM
KTGLENSNST DTLWRPMPKL APLGLKVANP SSDADGQSLK VMPCLAPIAA KVGSVGHKMN
LTGNDQEGRE SKVMPTLAPV VAKLGNSGAS PSSAGK*
mutated AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVAAKRPIEN AAQIPVATPQ VSPNTVKRAG PRLLLIPVQQ
GSPTLRPVSN TQLQGHRMVL QPVRSPSGMN LFRHPNGQIV QLLPLHQLRG SNTQPNLQPV
MFRNPGSVMG IRLPAPSKPS ETPPSSTSSS AFSVMNPVIQ AVGSSSAVNV ITQAPSLLSS
GASFVSQAGT LTLRISPPEP QSFASKTGSE TKITYSSGGQ PVGTASLIPL QSGSFALLQL
PGQKPVPSSI LQHVASLQMK RESQNPDQKD ETNSIKREQE TKKVLQSEGE AVDPEANVIK
QNSGAATSEE TLNDSLEDRG DHLDEECLPE EGCATVKPSE HSCITGSHTD QDYKDVNEEY
GARNRKSSKE KVAVLEVRTI SEKASNKTVQ NLSKVQHQKL GDVKVEQQKG FDNPEENSSE
FPVTFKEESK FELSGSKVME QQSNLQPEAK EKECGDSLEK DRERWRKHLK GPLTRKCVGA
SQECKKEADE QLIKETKTCQ ENSDVFQQEQ GISDLLGKSG ITEDARVLKT ECDSWSRISN
PSAFSIVPRR AAKSSRGNGH FQGHLLLPGE QIQPKQEKKG GRSSADFTVL DLEEDDEDDN
EKTDDSIDEI VDVVSDYQSE EVDDVEKNNC VEYIEDDEEH VDIETVEELS EEINVAHLKT
TAAHTQSFKQ PSCTHISADE KAAERSRKAP PIPLKLKPDY WSDKLQKEAE AFAYYRRTHT
ANERRRRGEM RDLFEKLKIT LGLLHSSKVS KSLILTRAFS EIQGLTDQAD KLIGQKNLLT
RKRNILIRKV SSLSGKTEEV VLKKLEYIYA KQQALEAQKR KKKMGSDEFD ISPRISKQQE
GSSASSVDLG QMFINNRRGK PLILSRKKDQ ATENTSPLNT PHTSANLVMT PQGQLLTLKG
PLFSGPVVAV SPDLLESDLK PQVAGSAVAL PENDDLFMMP RIVNVTSLAT EGGLVDMGGS
KYPHEVPDSK PSDHLKDTVR NEDNSLEDKG RISSRGNRDG RVTLGPTQVF LANKDSGYPQ
IVDVSNMQKA QEFLPKKISG DMRGIQYKWK ESESRGERVK SKDSSFHKLK MKDLKDSSIE
MELRKVTSAI EEAALDSSEL LTNMEDEDDT DETLTSLLNE IAFLNQQLND DSVGLAELPS
SMDTEFPGDA RRAFISKVPP GSRATFQVEH LGTGLKELPD VQGESDSISP LLLHLEDDDF
SENEKQLAEP ASEPDVLKIV IDSEIKDSLL SNKKAIDGGK NTSGLPAEPE SVSSPPTLHM
KTGLENSNST DTLWRPMPKL APLGLKVANP SSDADGQSLK VMPCLAPIAA KVGSVGHKMN
LTGNDQEGRE SKVMPTLAPV VAKLGNSGAS PSSAGK*
speed 0.81 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: 0.312110338791249 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:42032383C>GN/A show variant in all transcripts   IGV
HGNC symbol MGA
Ensembl transcript ID ENST00000219905
Genbank transcript ID NM_001164273
UniProt peptide Q8IWI9
alteration type single base exchange
alteration region CDS
DNA changes c.4567C>G
cDNA.4748C>G
g.118962C>G
AA changes P1523A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1523
frameshift no
known variant Reference ID: rs17677991
databasehomozygous (G/G)heterozygousallele carriers
1000G2639831246
ExAC70221872325745
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8121
1.0120.998
(flanking)3.0370.995
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 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1523NRPGKNLKAFVPAKRPIAARPSPG
mutated  not conserved    1523NRPGKNLKAFVAAKRPIAARPSP
Ptroglodytes  all identical  ENSPTRG00000006953  1526NRPGKNLKAFVPAKRPIAARPSP
Mmulatta  no alignment  ENSMMUG00000010168  n/a
Fcatus  all identical  ENSFCAG00000007347  1524NRPGKNLKAFVPAKRPIAARPSP
Mmusculus  all identical  ENSMUSG00000033943  1516NRSGKNLKAFVPAKRPIAARPSP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078784  1699SVSKSLAARSPLEK--------
Dmelanogaster  no homologue    
Celegans  no alignment  T07C4.2  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 9198 / 9198
position (AA) of stopcodon in wt / mu AA sequence 3066 / 3066
position of stopcodon in wt / mu cDNA 9379 / 9379
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 182 / 182
chromosome 15
strand 1
last intron/exon boundary 8103
theoretical NMD boundary in CDS 7871
length of CDS 9198
coding sequence (CDS) position 4567
cDNA position
(for ins/del: last normal base / first normal base)		 4748
gDNA position
(for ins/del: last normal base / first normal base)		 118962
chromosomal position
(for ins/del: last normal base / first normal base)		 42032383
original gDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGGT
altered gDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGGT
original cDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGCG
altered cDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGCG
wildtype AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVPAKRPIAA RPSPGGVFTQ FVMSKVGALQ QKIPGVSTPQ
TLAGTQKFSI RPSPVMVVTP VVSSEPVQVC SPVTAAVTTT TPQVFLENTT AVTPMTAISD
VETKETTYSS GATTTGVVEV SETNTSTSVT STQSTATVNL TKTTGITTPV ASVAFPKSLV
ASPSTITLPV ASTASTSLVV VTAAASSSMV TTPTSSLGSV PIILSGINGS PPVSQRPENA
AQIPVATPQV SPNTVKRAGP RLLLIPVQQG SPTLRPVSNT QLQGHRMVLQ PVRSPSGMNL
FRHPNGQIVQ LLPLHQLRGS NTQPNLQPVM FRNPGSVMGI RLPAPSKPSE TPPSSTSSSA
FSVMNPVIQA VGSSSAVNVI TQAPSLLSSG ASFVSQAGTL TLRISPPEPQ SFASKTGSET
KITYSSGGQP VGTASLIPLQ SGSFALLQLP GQKPVPSSIL QHVASLQMKR ESQNPDQKDE
TNSIKREQET KKVLQSEGEA VDPEANVIKQ NSGAATSEET LNDSLEDRGD HLDEECLPEE
GCATVKPSEH SCITGSHTDQ DYKDVNEEYG ARNRKSSKEK VAVLEVRTIS EKASNKTVQN
LSKVQHQKLG DVKVEQQKGF DNPEENSSEF PVTFKEESKF ELSGSKVMEQ QSNLQPEAKE
KECGDSLEKD RERWRKHLKG PLTRKCVGAS QECKKEADEQ LIKETKTCQE NSDVFQQEQG
ISDLLGKSGI TEDARVLKTE CDSWSRISNP SAFSIVPRRA AKSSRGNGHF QGHLLLPGEQ
IQPKQEKKGG RSSADFTVLD LEEDDEDDNE KTDDSIDEIV DVVSDYQSEE VDDVEKNNCV
EYIEDDEEHV DIETVEELSE EINVAHLKTT AAHTQSFKQP SCTHISADEK AAERSRKAPP
IPLKLKPDYW SDKLQKEAEA FAYYRRTHTA NERRRRGEMR DLFEKLKITL GLLHSSKVSK
SLILTRAFSE IQGLTDQADK LIGQKNLLTR KRNILIRKVS SLSGKTEEVV LKKLEYIYAK
QQALEAQKRK KKMGSDEFDI SPRISKQQEG SSASSVDLGQ MFINNRRGKP LILSRKKDQA
TENTSPLNTP HTSANLVMTP QGQLLTLKGP LFSGPVVAVS PDLLESDLKP QVAGSAVALP
ENDDLFMMPR IVNVTSLATE GGLVDMGGSK YPHEVPDSKP SDHLKDTVRN EDNSLEDKGR
ISSRGNRDGR VTLGPTQVFL ANKDSGYPQI VDVSNMQKAQ EFLPKKISGD MRGIQYKWKE
SESRGERVKS KDSSFHKLKM KDLKDSSIEM ELRKVTSAIE EAALDSSELL TNMEDEDDTD
ETLTSLLNEI AFLNQQLNDD SVGLAELPSS MDTEFPGDAR RAFISKVPPG SRATFQVEHL
GTGLKELPDV QGESDSISPL LLHLEDDDFS ENEKQLAEPA SEPDVLKIVI DSEIKDSLLS
NKKAIDGGKN TSGLPAEPES VSSPPTLHMK TGLENSNSTD TLWRPMPKLA PLGLKVANPS
SDADGQSLKV MPCLAPIAAK VGSVGHKMNL TGNDQEGRES KVMPTLAPVV AKLGNSGASP
SSAGK*
mutated AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVAAKRPIAA RPSPGGVFTQ FVMSKVGALQ QKIPGVSTPQ
TLAGTQKFSI RPSPVMVVTP VVSSEPVQVC SPVTAAVTTT TPQVFLENTT AVTPMTAISD
VETKETTYSS GATTTGVVEV SETNTSTSVT STQSTATVNL TKTTGITTPV ASVAFPKSLV
ASPSTITLPV ASTASTSLVV VTAAASSSMV TTPTSSLGSV PIILSGINGS PPVSQRPENA
AQIPVATPQV SPNTVKRAGP RLLLIPVQQG SPTLRPVSNT QLQGHRMVLQ PVRSPSGMNL
FRHPNGQIVQ LLPLHQLRGS NTQPNLQPVM FRNPGSVMGI RLPAPSKPSE TPPSSTSSSA
FSVMNPVIQA VGSSSAVNVI TQAPSLLSSG ASFVSQAGTL TLRISPPEPQ SFASKTGSET
KITYSSGGQP VGTASLIPLQ SGSFALLQLP GQKPVPSSIL QHVASLQMKR ESQNPDQKDE
TNSIKREQET KKVLQSEGEA VDPEANVIKQ NSGAATSEET LNDSLEDRGD HLDEECLPEE
GCATVKPSEH SCITGSHTDQ DYKDVNEEYG ARNRKSSKEK VAVLEVRTIS EKASNKTVQN
LSKVQHQKLG DVKVEQQKGF DNPEENSSEF PVTFKEESKF ELSGSKVMEQ QSNLQPEAKE
KECGDSLEKD RERWRKHLKG PLTRKCVGAS QECKKEADEQ LIKETKTCQE NSDVFQQEQG
ISDLLGKSGI TEDARVLKTE CDSWSRISNP SAFSIVPRRA AKSSRGNGHF QGHLLLPGEQ
IQPKQEKKGG RSSADFTVLD LEEDDEDDNE KTDDSIDEIV DVVSDYQSEE VDDVEKNNCV
EYIEDDEEHV DIETVEELSE EINVAHLKTT AAHTQSFKQP SCTHISADEK AAERSRKAPP
IPLKLKPDYW SDKLQKEAEA FAYYRRTHTA NERRRRGEMR DLFEKLKITL GLLHSSKVSK
SLILTRAFSE IQGLTDQADK LIGQKNLLTR KRNILIRKVS SLSGKTEEVV LKKLEYIYAK
QQALEAQKRK KKMGSDEFDI SPRISKQQEG SSASSVDLGQ MFINNRRGKP LILSRKKDQA
TENTSPLNTP HTSANLVMTP QGQLLTLKGP LFSGPVVAVS PDLLESDLKP QVAGSAVALP
ENDDLFMMPR IVNVTSLATE GGLVDMGGSK YPHEVPDSKP SDHLKDTVRN EDNSLEDKGR
ISSRGNRDGR VTLGPTQVFL ANKDSGYPQI VDVSNMQKAQ EFLPKKISGD MRGIQYKWKE
SESRGERVKS KDSSFHKLKM KDLKDSSIEM ELRKVTSAIE EAALDSSELL TNMEDEDDTD
ETLTSLLNEI AFLNQQLNDD SVGLAELPSS MDTEFPGDAR RAFISKVPPG SRATFQVEHL
GTGLKELPDV QGESDSISPL LLHLEDDDFS ENEKQLAEPA SEPDVLKIVI DSEIKDSLLS
NKKAIDGGKN TSGLPAEPES VSSPPTLHMK TGLENSNSTD TLWRPMPKLA PLGLKVANPS
SDADGQSLKV MPCLAPIAAK VGSVGHKMNL TGNDQEGRES KVMPTLAPVV AKLGNSGASP
SSAGK*
speed 0.66 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: 0.312110338791249 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:42032383C>GN/A show variant in all transcripts   IGV
HGNC symbol MGA
Ensembl transcript ID ENST00000570161
Genbank transcript ID N/A
UniProt peptide Q8IWI9
alteration type single base exchange
alteration region CDS
DNA changes c.4567C>G
cDNA.4567C>G
g.118962C>G
AA changes P1523A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1523
frameshift no
known variant Reference ID: rs17677991
databasehomozygous (G/G)heterozygousallele carriers
1000G2639831246
ExAC70221872325745
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8121
1.0120.998
(flanking)3.0370.995
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 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1523NRPGKNLKAFVPAKRPIAARPSPG
mutated  not conserved    1523NRPGKNLKAFVAAKRPIAARPSP
Ptroglodytes  all identical  ENSPTRG00000006953  1526NRPGKNLKAFVPAKRPIAARPSP
Mmulatta  no alignment  ENSMMUG00000010168  n/a
Fcatus  all identical  ENSFCAG00000007347  1524NRPGKNLKAFVPAKRPIAARPSP
Mmusculus  all identical  ENSMUSG00000033943  1516NRSGKNLKAFVPAKRPIAARPSP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078784  1699SVSKSLAARSPLEK--------
Dmelanogaster  no homologue    
Celegans  no alignment  T07C4.2  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 9198 / 9198
position (AA) of stopcodon in wt / mu AA sequence 3066 / 3066
position of stopcodon in wt / mu cDNA 9198 / 9198
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 7922
theoretical NMD boundary in CDS 7871
length of CDS 9198
coding sequence (CDS) position 4567
cDNA position
(for ins/del: last normal base / first normal base)		 4567
gDNA position
(for ins/del: last normal base / first normal base)		 118962
chromosomal position
(for ins/del: last normal base / first normal base)		 42032383
original gDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGGT
altered gDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGGT
original cDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGCG
altered cDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGCG
wildtype AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVPAKRPIAA RPSPGGVFTQ FVMSKVGALQ QKIPGVSTPQ
TLAGTQKFSI RPSPVMVVTP VVSSEPVQVC SPVTAAVTTT TPQVFLENTT AVTPMTAISD
VETKETTYSS GATTTGVVEV SETNTSTSVT STQSTATVNL TKTTGITTPV ASVAFPKSLV
ASPSTITLPV ASTASTSLVV VTAAASSSMV TTPTSSLGSV PIILSGINGS PPVSQRPENA
AQIPVATPQV SPNTVKRAGP RLLLIPVQQG SPTLRPVSNT QLQGHRMVLQ PVRSPSGMNL
FRHPNGQIVQ LLPLHQLRGS NTQPNLQPVM FRNPGSVMGI RLPAPSKPSE TPPSSTSSSA
FSVMNPVIQA VGSSSAVNVI TQAPSLLSSG ASFVSQAGTL TLRISPPEPQ SFASKTGSET
KITYSSGGQP VGTASLIPLQ SGSFALLQLP GQKPVPSSIL QHVASLQMKR ESQNPDQKDE
TNSIKREQET KKVLQSEGEA VDPEANVIKQ NSGAATSEET LNDSLEDRGD HLDEECLPEE
GCATVKPSEH SCITGSHTDQ DYKDVNEEYG ARNRKSSKEK VAVLEVRTIS EKASNKTVQN
LSKVQHQKLG DVKVEQQKGF DNPEENSSEF PVTFKEESKF ELSGSKVMEQ QSNLQPEAKE
KECGDSLEKD RERWRKHLKG PLTRKCVGAS QECKKEADEQ LIKETKTCQE NSDVFQQEQG
ISDLLGKSGI TEDARVLKTE CDSWSRISNP SAFSIVPRRA AKSSRGNGHF QGHLLLPGEQ
IQPKQEKKGG RSSADFTVLD LEEDDEDDNE KTDDSIDEIV DVVSDYQSEE VDDVEKNNCV
EYIEDDEEHV DIETVEELSE EINVAHLKTT AAHTQSFKQP SCTHISADEK AAERSRKAPP
IPLKLKPDYW SDKLQKEAEA FAYYRRTHTA NERRRRGEMR DLFEKLKITL GLLHSSKVSK
SLILTRAFSE IQGLTDQADK LIGQKNLLTR KRNILIRKVS SLSGKTEEVV LKKLEYIYAK
QQALEAQKRK KKMGSDEFDI SPRISKQQEG SSASSVDLGQ MFINNRRGKP LILSRKKDQA
TENTSPLNTP HTSANLVMTP QGQLLTLKGP LFSGPVVAVS PDLLESDLKP QVAGSAVALP
ENDDLFMMPR IVNVTSLATE GGLVDMGGSK YPHEVPDSKP SDHLKDTVRN EDNSLEDKGR
ISSRGNRDGR VTLGPTQVFL ANKDSGYPQI VDVSNMQKAQ EFLPKKISGD MRGIQYKWKE
SESRGERVKS KDSSFHKLKM KDLKDSSIEM ELRKVTSAIE EAALDSSELL TNMEDEDDTD
ETLTSLLNEI AFLNQQLNDD SVGLAELPSS MDTEFPGDAR RAFISKVPPG SRATFQVEHL
GTGLKELPDV QGESDSISPL LLHLEDDDFS ENEKQLAEPA SEPDVLKIVI DSEIKDSLLS
NKKAIDGGKN TSGLPAEPES VSSPPTLHMK TGLENSNSTD TLWRPMPKLA PLGLKVANPS
SDADGQSLKV MPCLAPIAAK VGSVGHKMNL TGNDQEGRES KVMPTLAPVV AKLGNSGASP
SSAGK*
mutated AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVAAKRPIAA RPSPGGVFTQ FVMSKVGALQ QKIPGVSTPQ
TLAGTQKFSI RPSPVMVVTP VVSSEPVQVC SPVTAAVTTT TPQVFLENTT AVTPMTAISD
VETKETTYSS GATTTGVVEV SETNTSTSVT STQSTATVNL TKTTGITTPV ASVAFPKSLV
ASPSTITLPV ASTASTSLVV VTAAASSSMV TTPTSSLGSV PIILSGINGS PPVSQRPENA
AQIPVATPQV SPNTVKRAGP RLLLIPVQQG SPTLRPVSNT QLQGHRMVLQ PVRSPSGMNL
FRHPNGQIVQ LLPLHQLRGS NTQPNLQPVM FRNPGSVMGI RLPAPSKPSE TPPSSTSSSA
FSVMNPVIQA VGSSSAVNVI TQAPSLLSSG ASFVSQAGTL TLRISPPEPQ SFASKTGSET
KITYSSGGQP VGTASLIPLQ SGSFALLQLP GQKPVPSSIL QHVASLQMKR ESQNPDQKDE
TNSIKREQET KKVLQSEGEA VDPEANVIKQ NSGAATSEET LNDSLEDRGD HLDEECLPEE
GCATVKPSEH SCITGSHTDQ DYKDVNEEYG ARNRKSSKEK VAVLEVRTIS EKASNKTVQN
LSKVQHQKLG DVKVEQQKGF DNPEENSSEF PVTFKEESKF ELSGSKVMEQ QSNLQPEAKE
KECGDSLEKD RERWRKHLKG PLTRKCVGAS QECKKEADEQ LIKETKTCQE NSDVFQQEQG
ISDLLGKSGI TEDARVLKTE CDSWSRISNP SAFSIVPRRA AKSSRGNGHF QGHLLLPGEQ
IQPKQEKKGG RSSADFTVLD LEEDDEDDNE KTDDSIDEIV DVVSDYQSEE VDDVEKNNCV
EYIEDDEEHV DIETVEELSE EINVAHLKTT AAHTQSFKQP SCTHISADEK AAERSRKAPP
IPLKLKPDYW SDKLQKEAEA FAYYRRTHTA NERRRRGEMR DLFEKLKITL GLLHSSKVSK
SLILTRAFSE IQGLTDQADK LIGQKNLLTR KRNILIRKVS SLSGKTEEVV LKKLEYIYAK
QQALEAQKRK KKMGSDEFDI SPRISKQQEG SSASSVDLGQ MFINNRRGKP LILSRKKDQA
TENTSPLNTP HTSANLVMTP QGQLLTLKGP LFSGPVVAVS PDLLESDLKP QVAGSAVALP
ENDDLFMMPR IVNVTSLATE GGLVDMGGSK YPHEVPDSKP SDHLKDTVRN EDNSLEDKGR
ISSRGNRDGR VTLGPTQVFL ANKDSGYPQI VDVSNMQKAQ EFLPKKISGD MRGIQYKWKE
SESRGERVKS KDSSFHKLKM KDLKDSSIEM ELRKVTSAIE EAALDSSELL TNMEDEDDTD
ETLTSLLNEI AFLNQQLNDD SVGLAELPSS MDTEFPGDAR RAFISKVPPG SRATFQVEHL
GTGLKELPDV QGESDSISPL LLHLEDDDFS ENEKQLAEPA SEPDVLKIVI DSEIKDSLLS
NKKAIDGGKN TSGLPAEPES VSSPPTLHMK TGLENSNSTD TLWRPMPKLA PLGLKVANPS
SDADGQSLKV MPCLAPIAAK VGSVGHKMNL TGNDQEGRES KVMPTLAPVV AKLGNSGASP
SSAGK*
speed 0.67 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: 0.312110338791249 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:42032383C>GN/A show variant in all transcripts   IGV
HGNC symbol MGA
Ensembl transcript ID ENST00000389936
Genbank transcript ID N/A
UniProt peptide Q8IWI9
alteration type single base exchange
alteration region CDS
DNA changes c.4567C>G
cDNA.4748C>G
g.118962C>G
AA changes P1523A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1523
frameshift no
known variant Reference ID: rs17677991
databasehomozygous (G/G)heterozygousallele carriers
1000G2639831246
ExAC70221872325745
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8121
1.0120.998
(flanking)3.0370.995
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 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1523NRPGKNLKAFVPAKRPIAARPSPG
mutated  not conserved    1523NRPGKNLKAFVAAKRPIAARPSP
Ptroglodytes  all identical  ENSPTRG00000006953  1526NRPGKNLKAFVPAKRPIAARPSP
Mmulatta  no alignment  ENSMMUG00000010168  n/a
Fcatus  all identical  ENSFCAG00000007347  1524NRPGKNLKAFVPAKRPIAARPSP
Mmusculus  all identical  ENSMUSG00000033943  1516NRSGKNLKAFVPAKRPIAARPSP
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078784  1699SVSKSLAARSPLEK--------
Dmelanogaster  no homologue    
Celegans  no alignment  T07C4.2  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 9081 / 9081
position (AA) of stopcodon in wt / mu AA sequence 3027 / 3027
position of stopcodon in wt / mu cDNA 9262 / 9262
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 182 / 182
chromosome 15
strand 1
last intron/exon boundary 7986
theoretical NMD boundary in CDS 7754
length of CDS 9081
coding sequence (CDS) position 4567
cDNA position
(for ins/del: last normal base / first normal base)		 4748
gDNA position
(for ins/del: last normal base / first normal base)		 118962
chromosomal position
(for ins/del: last normal base / first normal base)		 42032383
original gDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGGT
altered gDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGGT
original cDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGCG
altered cDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGCG
wildtype AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVPAKRPIAA RPSPGGVFTQ FVMSKVGALQ QKIPGVSTPQ
TLAGTQKFSI RPSPVMVVTP VVSSEPVQVC SPVTAAVTTT TPQVFLENTT AVTPMTAISD
VETKETTYSS GATTTGVVEV SETNTSTSVT STQSTATVNL TKTTGITTPV ASVAFPKSLV
ASPSTITLPV ASTASTSLVV VTAAASSSMV TTPTSSLGSV PIILSGINGS PPVSQRPENA
AQIPVATPQV SPNTVKRAGP RLLHPNGQIV QLLPLHQLRG SNTQPNLQPV MFRNPGSVMG
IRLPAPSKPS ETPPSSTSSS AFSVMNPVIQ AVGSSSAVNV ITQAPSLLSS GASFVSQAGT
LTLRISPPEP QSFASKTGSE TKITYSSGGQ PVGTASLIPL QSGSFALLQL PGQKPVPSSI
LQHVASLQMK RESQNPDQKD ETNSIKREQE TKKVLQSEGE AVDPEANVIK QNSGAATSEE
TLNDSLEDRG DHLDEECLPE EGCATVKPSE HSCITGSHTD QDYKDVNEEY GARNRKSSKE
KVAVLEVRTI SEKASNKTVQ NLSKVQHQKL GDVKVEQQKG FDNPEENSSE FPVTFKEESK
FELSGSKVME QQSNLQPEAK EKECGDSLEK DRERWRKHLK GPLTRKCVGA SQECKKEADE
QLIKETKTCQ ENSDVFQQEQ GISDLLGKSG ITEDARVLKT ECDSWSRISN PSAFSIVPRR
AAKSSRGNGH FQGHLLLPGE QIQPKQEKKG GRSSADFTVL DLEEDDEDDN EKTDDSIDEI
VDVVSDYQSE EVDDVEKNNC VEYIEDDEEH VDIETVEELS EEINVAHLKT TAAHTQSFKQ
PSCTHISADE KAAERSRKAP PIPLKLKPDY WSDKLQKEAE AFAYYRRTHT ANERRRRGEM
RDLFEKLKIT LGLLHSSKVS KSLILTRAFS EIQGLTDQAD KLIGQKNLLT RKRNILIRKV
SSLSGKTEEV VLKKLEYIYA KQQALEAQKR KKKMGSDEFD ISPRISKQQE GSSASSVDLG
QMFINNRRGK PLILSRKKDQ ATENTSPLNT PHTSANLVMT PQGQLLTLKG PLFSGPVVAV
SPDLLESDLK PQVAGSAVAL PENDDLFMMP RIVNVTSLAT EGGLVDMGGS KYPHEVPDSK
PSDHLKDTVR NEDNSLEDKG RISSRGNRDG RVTLGPTQVF LANKDSGYPQ IVDVSNMQKA
QEFLPKKISG DMRGIQYKWK ESESRGERVK SKDSSFHKLK MKDLKDSSIE MELRKVTSAI
EEAALDSSEL LTNMEDEDDT DETLTSLLNE IAFLNQQLND DSVGLAELPS SMDTEFPGDA
RRAFISKVPP GSRATFQVEH LGTGLKELPD VQGESDSISP LLLHLEDDDF SENEKQLAEP
ASEPDVLKIV IDSEIKDSLL SNKKAIDGGK NTSGLPAEPE SVSSPPTLHM KTGLENSNST
DTLWRPMPKL APLGLKVANP SSDADGQSLK VMPCLAPIAA KVGSVGHKMN LTGNDQEGRE
SKVMPTLAPV VAKLGNSGAS PSSAGK*
mutated AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVAAKRPIAA RPSPGGVFTQ FVMSKVGALQ QKIPGVSTPQ
TLAGTQKFSI RPSPVMVVTP VVSSEPVQVC SPVTAAVTTT TPQVFLENTT AVTPMTAISD
VETKETTYSS GATTTGVVEV SETNTSTSVT STQSTATVNL TKTTGITTPV ASVAFPKSLV
ASPSTITLPV ASTASTSLVV VTAAASSSMV TTPTSSLGSV PIILSGINGS PPVSQRPENA
AQIPVATPQV SPNTVKRAGP RLLHPNGQIV QLLPLHQLRG SNTQPNLQPV MFRNPGSVMG
IRLPAPSKPS ETPPSSTSSS AFSVMNPVIQ AVGSSSAVNV ITQAPSLLSS GASFVSQAGT
LTLRISPPEP QSFASKTGSE TKITYSSGGQ PVGTASLIPL QSGSFALLQL PGQKPVPSSI
LQHVASLQMK RESQNPDQKD ETNSIKREQE TKKVLQSEGE AVDPEANVIK QNSGAATSEE
TLNDSLEDRG DHLDEECLPE EGCATVKPSE HSCITGSHTD QDYKDVNEEY GARNRKSSKE
KVAVLEVRTI SEKASNKTVQ NLSKVQHQKL GDVKVEQQKG FDNPEENSSE FPVTFKEESK
FELSGSKVME QQSNLQPEAK EKECGDSLEK DRERWRKHLK GPLTRKCVGA SQECKKEADE
QLIKETKTCQ ENSDVFQQEQ GISDLLGKSG ITEDARVLKT ECDSWSRISN PSAFSIVPRR
AAKSSRGNGH FQGHLLLPGE QIQPKQEKKG GRSSADFTVL DLEEDDEDDN EKTDDSIDEI
VDVVSDYQSE EVDDVEKNNC VEYIEDDEEH VDIETVEELS EEINVAHLKT TAAHTQSFKQ
PSCTHISADE KAAERSRKAP PIPLKLKPDY WSDKLQKEAE AFAYYRRTHT ANERRRRGEM
RDLFEKLKIT LGLLHSSKVS KSLILTRAFS EIQGLTDQAD KLIGQKNLLT RKRNILIRKV
SSLSGKTEEV VLKKLEYIYA KQQALEAQKR KKKMGSDEFD ISPRISKQQE GSSASSVDLG
QMFINNRRGK PLILSRKKDQ ATENTSPLNT PHTSANLVMT PQGQLLTLKG PLFSGPVVAV
SPDLLESDLK PQVAGSAVAL PENDDLFMMP RIVNVTSLAT EGGLVDMGGS KYPHEVPDSK
PSDHLKDTVR NEDNSLEDKG RISSRGNRDG RVTLGPTQVF LANKDSGYPQ IVDVSNMQKA
QEFLPKKISG DMRGIQYKWK ESESRGERVK SKDSSFHKLK MKDLKDSSIE MELRKVTSAI
EEAALDSSEL LTNMEDEDDT DETLTSLLNE IAFLNQQLND DSVGLAELPS SMDTEFPGDA
RRAFISKVPP GSRATFQVEH LGTGLKELPD VQGESDSISP LLLHLEDDDF SENEKQLAEP
ASEPDVLKIV IDSEIKDSLL SNKKAIDGGK NTSGLPAEPE SVSSPPTLHM KTGLENSNST
DTLWRPMPKL APLGLKVANP SSDADGQSLK VMPCLAPIAA KVGSVGHKMN LTGNDQEGRE
SKVMPTLAPV VAKLGNSGAS PSSAGK*
speed 0.81 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: 0.312110338791249 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr15:42032383C>GN/A show variant in all transcripts   IGV
HGNC symbol MGA
Ensembl transcript ID ENST00000545763
Genbank transcript ID NM_001080541
UniProt peptide Q8IWI9
alteration type single base exchange
alteration region CDS
DNA changes c.4567C>G
cDNA.4748C>G
g.118962C>G
AA changes P1523A Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1523
frameshift no
known variant Reference ID: rs17677991
databasehomozygous (G/G)heterozygousallele carriers
1000G2639831246
ExAC70221872325745
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.8121
1.0120.998
(flanking)3.0370.995
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 19
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      1523NRPGKNLKAFVPAKRPIENAAQIP
mutated  not conserved    1523NRPGKNLKAFVAAKRPIENAAQI
Ptroglodytes  all identical  ENSPTRG00000006953  1526NRPGKNLKAFVPAKRPIAARPSPGGVFTQFVMSKVGALQQKI
Mmulatta  no alignment  ENSMMUG00000010168  n/a
Fcatus  all identical  ENSFCAG00000007347  1738GIDGSP-----PVSQRP
Mmusculus  all identical  ENSMUSG00000033943  1516NRSGKNLKAFVPAKRPI------
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  all identical  ENSDARG00000078784  1699SVSKSLAARSPLEKVFSQFVVN
Dmelanogaster  no homologue    
Celegans  no alignment  T07C4.2  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 8571 / 8571
position (AA) of stopcodon in wt / mu AA sequence 2857 / 2857
position of stopcodon in wt / mu cDNA 8752 / 8752
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 182 / 182
chromosome 15
strand 1
last intron/exon boundary 7476
theoretical NMD boundary in CDS 7244
length of CDS 8571
coding sequence (CDS) position 4567
cDNA position
(for ins/del: last normal base / first normal base)		 4748
gDNA position
(for ins/del: last normal base / first normal base)		 118962
chromosomal position
(for ins/del: last normal base / first normal base)		 42032383
original gDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGGT
altered gDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGGT
original cDNA sequence snippet AGAATCTGAAGGCGTTTGTCCCAGCAAAACGGCCAATTGAA
altered cDNA sequence snippet AGAATCTGAAGGCGTTTGTCGCAGCAAAACGGCCAATTGAA
wildtype AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVPAKRPIEN AAQIPVATPQ VSPNTVKRAG PRLLLIPVQQ
GSPTLRPVSN TQLQGHRMVL QPVRSPSGMN LFRHPNGQIV QLLPLHQLRG SNTQPNLQPV
MFRNPGSVMG IRLPAPSKPS ETPPSSTSSS AFSVMNPVIQ AVGSSSAVNV ITQAPSLLSS
GASFVSQAGT LTLRISPPEP QSFASKTGSE TKITYSSGGQ PVGTASLIPL QSGSFALLQL
PGQKPVPSSI LQHVASLQMK RESQNPDQKD ETNSIKREQE TKKVLQSEGE AVDPEANVIK
QNSGAATSEE TLNDSLEDRG DHLDEECLPE EGCATVKPSE HSCITGSHTD QDYKDVNEEY
GARNRKSSKE KVAVLEVRTI SEKASNKTVQ NLSKVQHQKL GDVKVEQQKG FDNPEENSSE
FPVTFKEESK FELSGSKVME QQSNLQPEAK EKECGDSLEK DRERWRKHLK GPLTRKCVGA
SQECKKEADE QLIKETKTCQ ENSDVFQQEQ GISDLLGKSG ITEDARVLKT ECDSWSRISN
PSAFSIVPRR AAKSSRGNGH FQGHLLLPGE QIQPKQEKKG GRSSADFTVL DLEEDDEDDN
EKTDDSIDEI VDVVSDYQSE EVDDVEKNNC VEYIEDDEEH VDIETVEELS EEINVAHLKT
TAAHTQSFKQ PSCTHISADE KAAERSRKAP PIPLKLKPDY WSDKLQKEAE AFAYYRRTHT
ANERRRRGEM RDLFEKLKIT LGLLHSSKVS KSLILTRAFS EIQGLTDQAD KLIGQKNLLT
RKRNILIRKV SSLSGKTEEV VLKKLEYIYA KQQALEAQKR KKKMGSDEFD ISPRISKQQE
GSSASSVDLG QMFINNRRGK PLILSRKKDQ ATENTSPLNT PHTSANLVMT PQGQLLTLKG
PLFSGPVVAV SPDLLESDLK PQVAGSAVAL PENDDLFMMP RIVNVTSLAT EGGLVDMGGS
KYPHEVPDSK PSDHLKDTVR NEDNSLEDKG RISSRGNRDG RVTLGPTQVF LANKDSGYPQ
IVDVSNMQKA QEFLPKKISG DMRGIQYKWK ESESRGERVK SKDSSFHKLK MKDLKDSSIE
MELRKVTSAI EEAALDSSEL LTNMEDEDDT DETLTSLLNE IAFLNQQLND DSVGLAELPS
SMDTEFPGDA RRAFISKVPP GSRATFQVEH LGTGLKELPD VQGESDSISP LLLHLEDDDF
SENEKQLAEP ASEPDVLKIV IDSEIKDSLL SNKKAIDGGK NTSGLPAEPE SVSSPPTLHM
KTGLENSNST DTLWRPMPKL APLGLKVANP SSDADGQSLK VMPCLAPIAA KVGSVGHKMN
LTGNDQEGRE SKVMPTLAPV VAKLGNSGAS PSSAGK*
mutated AA sequence MEEKQQIILA NQDGGTVAGA APTFFVILKQ PGNGKTDQGI LVTNQDACAL ASSVSSPVKS
KGKICLPADC TVGGITVTLD NNSMWNEFYH RSTEMILTKQ GRRMFPYCRY WITGLDSNLK
YILVMDISPV DNHRYKWNGR WWEPSGKAEP HVLGRVFIHP ESPSTGHYWM HQPVSFYKLK
LTNNTLDQEG HIILHSMHRY LPRLHLVPAE KAVEVIQLNG PGVHTFTFPQ TEFFAVTAYQ
NIQITQLKID YNPFAKGFRD DGLNNKPQRD GKQKNSSDQE GNNISSSSGH RVRLTEGQGS
EIQPGDLDPL SRGHETSGKG LEKTSLNIKR DFLGFMDTDS ALSEVPQLKQ EISECLIASS
FEDDSRVASP LDQNGSFNVV IKEEPLDDYD YELGECPEGV TVKQEETDEE TDVYSNSDDD
PILEKQLKRH NKVDNPEADH LSSKWLPSSP SGVAKAKMFK LDTGKMPVVY LEPCAVTRST
VKISELPDNM LSTSRKDKSS MLAELEYLPT YIENSNETAF CLGKESENGL RKHSPDLRVV
QKYPLLKEPQ WKYPDISDSI STERILDDSK DSVGDSLSGK EDLGRKRTTM LKIATAAKVV
NANQNASPNV PGKRGRPRKL KLCKAGRPPK NTGKSLISTK NTPVSPGSTF PDVKPDLEDV
DGVLFVSFES KEALDIHAVD GTTEESSSLQ ASTTNDSGYR ARISQLEKEL IEDLKTLRHK
QVIHPGLQEV GLKLNSVDPT MSIDLKYLGV QLPLAPATSF PFWNLTGTNP ASPDAGFPFV
SRTGKTNDFT KIKGWRGKFH SASASRNEGG NSESSLKNRS AFCSDKLDEY LENEGKLMET
SMGFSSNAPT SPVVYQLPTK STSYVRTLDS VLKKQSTISP STSYSLKPHS VPPVSRKAKS
QNRQATFSGR TKSSYKSILP YPVSPKQKYS HVILGDKVTK NSSGIISENQ ANNFVVPTLD
ENIFPKQISL RQAQQQQQQQ QGSRPPGLSK SQVKLMDLED CALWEGKPRT YITEERADVS
LTTLLTAQAS LKTKPIHTII RKRAPPCNND FCRLGCVCSS LALEKRQPAH CRRPDCMFGC
TCLKRKVVLV KGGSKTKHFQ RKAAHRDPVF YDTLGEEARE EEEGIREEEE QLKEKKKRKK
LEYTICETEP EQPVRHYPLW VKVEGEVDPE PVYIPTPSVI EPMKPLLLPQ PEVLSPTVKG
KLLTGIKSPR SYTPKPNPVI REEDKDPVYL YFESMMTCAR VRVYERKKED QRQPSSSSSP
SPSFQQQTSC HSSPENHNNA KEPDSEQQPL KQLTCDLEDD SDKLQEKSWK SSCNEGESSS
TSYMHQRSPG GPTKLIEIIS DCNWEEDRNK ILSILSQHIN SNMPQSLKVG SFIIELASQR
KSRGEKNPPV YSSRVKISMP SCQDQDDMAE KSGSETPDGP LSPGKMEDIS PVQTDALDSV
RERLHGGKGL PFYAGLSPAG KLVAYKRKPS SSTSGLIQVA SNAKVAASRK PRTLLPSTSN
SKMASSSGTA TNRPGKNLKA FVAAKRPIEN AAQIPVATPQ VSPNTVKRAG PRLLLIPVQQ
GSPTLRPVSN TQLQGHRMVL QPVRSPSGMN LFRHPNGQIV QLLPLHQLRG SNTQPNLQPV
MFRNPGSVMG IRLPAPSKPS ETPPSSTSSS AFSVMNPVIQ AVGSSSAVNV ITQAPSLLSS
GASFVSQAGT LTLRISPPEP QSFASKTGSE TKITYSSGGQ PVGTASLIPL QSGSFALLQL
PGQKPVPSSI LQHVASLQMK RESQNPDQKD ETNSIKREQE TKKVLQSEGE AVDPEANVIK
QNSGAATSEE TLNDSLEDRG DHLDEECLPE EGCATVKPSE HSCITGSHTD QDYKDVNEEY
GARNRKSSKE KVAVLEVRTI SEKASNKTVQ NLSKVQHQKL GDVKVEQQKG FDNPEENSSE
FPVTFKEESK FELSGSKVME QQSNLQPEAK EKECGDSLEK DRERWRKHLK GPLTRKCVGA
SQECKKEADE QLIKETKTCQ ENSDVFQQEQ GISDLLGKSG ITEDARVLKT ECDSWSRISN
PSAFSIVPRR AAKSSRGNGH FQGHLLLPGE QIQPKQEKKG GRSSADFTVL DLEEDDEDDN
EKTDDSIDEI VDVVSDYQSE EVDDVEKNNC VEYIEDDEEH VDIETVEELS EEINVAHLKT
TAAHTQSFKQ PSCTHISADE KAAERSRKAP PIPLKLKPDY WSDKLQKEAE AFAYYRRTHT
ANERRRRGEM RDLFEKLKIT LGLLHSSKVS KSLILTRAFS EIQGLTDQAD KLIGQKNLLT
RKRNILIRKV SSLSGKTEEV VLKKLEYIYA KQQALEAQKR KKKMGSDEFD ISPRISKQQE
GSSASSVDLG QMFINNRRGK PLILSRKKDQ ATENTSPLNT PHTSANLVMT PQGQLLTLKG
PLFSGPVVAV SPDLLESDLK PQVAGSAVAL PENDDLFMMP RIVNVTSLAT EGGLVDMGGS
KYPHEVPDSK PSDHLKDTVR NEDNSLEDKG RISSRGNRDG RVTLGPTQVF LANKDSGYPQ
IVDVSNMQKA QEFLPKKISG DMRGIQYKWK ESESRGERVK SKDSSFHKLK MKDLKDSSIE
MELRKVTSAI EEAALDSSEL LTNMEDEDDT DETLTSLLNE IAFLNQQLND DSVGLAELPS
SMDTEFPGDA RRAFISKVPP GSRATFQVEH LGTGLKELPD VQGESDSISP LLLHLEDDDF
SENEKQLAEP ASEPDVLKIV IDSEIKDSLL SNKKAIDGGK NTSGLPAEPE SVSSPPTLHM
KTGLENSNST DTLWRPMPKL APLGLKVANP SSDADGQSLK VMPCLAPIAA KVGSVGHKMN
LTGNDQEGRE SKVMPTLAPV VAKLGNSGAS PSSAGK*
speed 0.67 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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