Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000569532
Querying Taster for transcript #2: ENST00000304381
Querying Taster for transcript #3: ENST00000421369
MT speed 0 s - this script 4.70922 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
TMC7polymorphism_automatic0.570293214102544simple_aaeaffectedG254Esingle base exchangers28583298show file
TMC7polymorphism_automatic0.570293214102544simple_aaeaffectedG254Esingle base exchangers28583298show file
TMC7polymorphism_automatic0.570293214102544simple_aaeaffectedG144Esingle base exchangers28583298show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.429706785897456 (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) chr16:19041595G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC7
Ensembl transcript ID ENST00000569532
Genbank transcript ID N/A
UniProt peptide Q7Z402
alteration type single base exchange
alteration region CDS
DNA changes c.761G>A
cDNA.891G>A
g.46340G>A
AA changes G254E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 254
frameshift no
known variant Reference ID: rs28583298
databasehomozygous (A/A)heterozygousallele carriers
1000G8919411832
ExAC23637-145079130
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1350.911
2.4330.91
(flanking)0.2270.652
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased46341wt: 0.9690 / mu: 0.9890 (marginal change - not scored)wt: GATGGGGTGAAATTT
mu: GATGAGGTGAAATTT		 TGGG|gtga
Donor gained463350.88mu: ACCATTGATGAGGTG CATT|gatg
Donor gained463380.40mu: ATTGATGAGGTGAAA TGAT|gagg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      254TSLFYGHYTIDGVKFQNFTYDLPL
mutated  not conserved    254TSLFYGHYTIDEVKFQNFTYDLP
Ptroglodytes  all identical  ENSPTRG00000007827  254TSLFYGHYTIDGVKFQNFTYDLP
Mmulatta  all identical  ENSMMUG00000006911  254TSLFYGHYTIDGVKFQNFTYDLP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042246  252TSLFYGHYTIDGVKFQSFTYDLP
Ggallus  not conserved  ENSGALG00000006889  218TVLFYGYYTIDAAWFSVLRYNLP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031040  223TYLFYGYYTIETVTFYVFNYSLP
protein features
start (aa)end (aa)featuredetails 
241263TOPO_DOMExtracellular (Potential).lost
259259CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264284TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
285362TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
384404TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
405425TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
426494TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
495515TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
516555TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
556576TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
577601TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
602622TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
623665TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
638638CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
666686TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
687723TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2277 / 2277
position (AA) of stopcodon in wt / mu AA sequence 759 / 759
position of stopcodon in wt / mu cDNA 2407 / 2407
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 131 / 131
chromosome 16
strand 1
last intron/exon boundary 2158
theoretical NMD boundary in CDS 1977
length of CDS 2277
coding sequence (CDS) position 761
cDNA position
(for ins/del: last normal base / first normal base)		 891
gDNA position
(for ins/del: last normal base / first normal base)		 46340
chromosomal position
(for ins/del: last normal base / first normal base)		 19041595
original gDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered gDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
original cDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered cDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
wildtype AA sequence MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDGVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLVRKHSSRG SWLGTFTQDT
ARKVLFSWEG VKLLQPSLTT TSPKLCLEAQ PRPASLIH*
mutated AA sequence MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDEVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLVRKHSSRG SWLGTFTQDT
ARKVLFSWEG VKLLQPSLTT TSPKLCLEAQ PRPASLIH*
speed 1.17 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: 0.429706785897456 (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) chr16:19041595G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC7
Ensembl transcript ID ENST00000304381
Genbank transcript ID NM_024847
UniProt peptide Q7Z402
alteration type single base exchange
alteration region CDS
DNA changes c.761G>A
cDNA.891G>A
g.46340G>A
AA changes G254E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 254
frameshift no
known variant Reference ID: rs28583298
databasehomozygous (A/A)heterozygousallele carriers
1000G8919411832
ExAC23637-145079130
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1350.911
2.4330.91
(flanking)0.2270.652
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased46341wt: 0.9690 / mu: 0.9890 (marginal change - not scored)wt: GATGGGGTGAAATTT
mu: GATGAGGTGAAATTT		 TGGG|gtga
Donor gained463350.88mu: ACCATTGATGAGGTG CATT|gatg
Donor gained463380.40mu: ATTGATGAGGTGAAA TGAT|gagg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      254TSLFYGHYTIDGVKFQNFTYDLPL
mutated  not conserved    254TSLFYGHYTIDEVKFQNFTYDLP
Ptroglodytes  all identical  ENSPTRG00000007827  254TSLFYGHYTIDGVKFQNFTYDLP
Mmulatta  all identical  ENSMMUG00000006911  254TSLFYGHYTIDGVKFQNFTYDLP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042246  252TSLFYGHYTIDGVKFQSFTYDLP
Ggallus  not conserved  ENSGALG00000006889  218TVLFYGYYTIDAAWFSVLRYNLP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031040  223TYLFYGYYTIETVTFYVFNYSLP
protein features
start (aa)end (aa)featuredetails 
241263TOPO_DOMExtracellular (Potential).lost
259259CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264284TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
285362TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
384404TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
405425TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
426494TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
495515TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
516555TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
556576TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
577601TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
602622TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
623665TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
638638CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
666686TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
687723TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2172 / 2172
position (AA) of stopcodon in wt / mu AA sequence 724 / 724
position of stopcodon in wt / mu cDNA 2302 / 2302
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 131 / 131
chromosome 16
strand 1
last intron/exon boundary 2237
theoretical NMD boundary in CDS 2056
length of CDS 2172
coding sequence (CDS) position 761
cDNA position
(for ins/del: last normal base / first normal base)		 891
gDNA position
(for ins/del: last normal base / first normal base)		 46340
chromosomal position
(for ins/del: last normal base / first normal base)		 19041595
original gDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered gDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
original cDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered cDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
wildtype AA sequence MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDGVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL IQKLTEAQRD
MRN*
mutated AA sequence MSESSGSALQ PGRPSRQPAV HPENLSLDSS CFSSPPVNFL QELPSYRSIA RRRTTVHSRD
KQSGTLLKPT DSYSSQLEDR IAENLSSHSL RNYALNISEK RRLRDIQETQ MKYLSEWDQW
KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL VLLNLVIFLI
IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI IDLLSGTGFL
EETSLFYGHY TIDEVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG FKINLIRSEE
HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER TSEETIRIYS
LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP SIVITLANFI
TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD DDTCDLCGYN
QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI QCWGQQEFAI
PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS PRPFRASNSN
FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST FPSSLQSFIH
GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL IQKLTEAQRD
MRN*
speed 1.19 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: 0.429706785897456 (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) chr16:19041595G>AN/A show variant in all transcripts   IGV
HGNC symbol TMC7
Ensembl transcript ID ENST00000421369
Genbank transcript ID NM_001160364
UniProt peptide Q7Z402
alteration type single base exchange
alteration region CDS
DNA changes c.431G>A
cDNA.989G>A
g.46340G>A
AA changes G144E Score: 98 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 144
frameshift no
known variant Reference ID: rs28583298
databasehomozygous (A/A)heterozygousallele carriers
1000G8919411832
ExAC23637-145079130
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1350.911
2.4330.91
(flanking)0.2270.652
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased46341wt: 0.9690 / mu: 0.9890 (marginal change - not scored)wt: GATGGGGTGAAATTT
mu: GATGAGGTGAAATTT		 TGGG|gtga
Donor gained463350.88mu: ACCATTGATGAGGTG CATT|gatg
Donor gained463380.40mu: ATTGATGAGGTGAAA TGAT|gagg
distance from splice site 50
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      144TSLFYGHYTIDGVKFQNFTYDLPL
mutated  not conserved    144TSLFYGHYTIDEVKFQNFTYDLP
Ptroglodytes  all identical  ENSPTRG00000007827  254TSLFYGHYTIDGVKFQNFTYDLP
Mmulatta  all identical  ENSMMUG00000006911  254TSLFYGHYTIDGVKFQNFTYDLP
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042246  252TSLFYGHYTIDGVKFQSFTYDLP
Ggallus  not conserved  ENSGALG00000006889  219TVLFYGYYTIDAAWFSVLRYNLP
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  not conserved  ENSXETG00000031040  223TYLFYGYYTIETVTFYVFNYSLP
protein features
start (aa)end (aa)featuredetails 
1168TOPO_DOMExtracellular (Potential).lost
169189TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
190219TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
220240TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
241263TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
259259CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
264284TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
285362TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
363383TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
384404TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
405425TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
426494TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
495515TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
516555TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
556576TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
577601TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
602622TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
623665TOPO_DOMExtracellular (Potential).might get lost (downstream of altered splice site)
638638CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
666686TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
687723TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1842 / 1842
position (AA) of stopcodon in wt / mu AA sequence 614 / 614
position of stopcodon in wt / mu cDNA 2400 / 2400
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 559 / 559
chromosome 16
strand 1
last intron/exon boundary 2335
theoretical NMD boundary in CDS 1726
length of CDS 1842
coding sequence (CDS) position 431
cDNA position
(for ins/del: last normal base / first normal base)		 989
gDNA position
(for ins/del: last normal base / first normal base)		 46340
chromosomal position
(for ins/del: last normal base / first normal base)		 19041595
original gDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered gDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
original cDNA sequence snippet CGGACATTACACCATTGATGGGGTGAAATTTCAGAACTTCA
altered cDNA sequence snippet CGGACATTACACCATTGATGAGGTGAAATTTCAGAACTTCA
wildtype AA sequence MKYLSEWDQW KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL
VLLNLVIFLI IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI
IDLLSGTGFL EETSLFYGHY TIDGVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG
FKINLIRSEE HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER
TSEETIRIYS LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP
SIVITLANFI TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD
DDTCDLCGYN QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI
QCWGQQEFAI PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS
PRPFRASNSN FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST
FPSSLQSFIH GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL
IQKLTEAQRD MRN*
mutated AA sequence MKYLSEWDQW KRYSSKSWKR FLEKAREMTT HLELWREDIR SIEGKFGTGI QSYFSFLRFL
VLLNLVIFLI IFMLVLLPVL LTKYKITNSS FVLIPFKDMD KQCTVYPVSS SGLIYFYSYI
IDLLSGTGFL EETSLFYGHY TIDEVKFQNF TYDLPLAYLL STIASLALSL LWIVKRSVEG
FKINLIRSEE HFQSYCNKIF AGWDFCITNR SMADLKHSSL RYELRADLEE ERMRQKIAER
TSEETIRIYS LRLFLNCIVL AVLGACFYAI YVATVFSQEH MKKEIDKMVF GENLFILYLP
SIVITLANFI TPMIFAKIIR YEDYSPGFEI RLTILRCVFM RLATICVLVF TLGSKITSCD
DDTCDLCGYN QKLYPCWETQ VGQEMYKLMI FDFIIILAVT LFVDFPRKLL VTYCSSCKLI
QCWGQQEFAI PDNVLGIVYG QTICWIGAFF SPLLPAIATL KFIIIFYVKE WSLLYTCRPS
PRPFRASNSN FFFLLVLLIG LCLAIIPLTI SISRIPSSKA CGPFTNFNTT WEVIPKTVST
FPSSLQSFIH GVTSEAFAVP FFMIICLIMF YFIALAGAHK RVVIQLREQL SLESRDKCYL
IQKLTEAQRD MRN*
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
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Problems