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: ENST00000268933
Querying Taster for transcript #2: ENST00000537145
Querying Taster for transcript #3: ENST00000541226
MT speed 0 s - this script 3.073628 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
EPN3polymorphism_automatic4.36495284361627e-12simple_aaeaffectedA13Psingle base exchangers755046show file
EPN3polymorphism_automatic1.2870069440174e-06without_aaeaffectedsingle base exchangers755046show file
EPN3polymorphism_automatic2.19176249309783e-05without_aaeaffectedsingle base exchangers755046show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999995635 (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) chr17:48610272G>CN/A show variant in all transcripts   IGV
HGNC symbol EPN3
Ensembl transcript ID ENST00000537145
Genbank transcript ID N/A
UniProt peptide Q9H201
alteration type single base exchange
alteration region CDS
DNA changes c.37G>C
cDNA.174G>C
g.369G>C
AA changes A13P Score: 27 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 13
frameshift no
known variant Reference ID: rs755046
databasehomozygous (C/C)heterozygousallele carriers
1000G16437422385
ExAC314219025044
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3960.003
-0.0890
(flanking)0.010
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased380wt: 0.9016 / mu: 0.9573 (marginal change - not scored)wt: TGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGCAGAG
mu: TGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGCAGAG		 acag|GTCG
Acc marginally increased370wt: 0.2597 / mu: 0.2776 (marginal change - not scored)wt: CCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGT
mu: CCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGT		 ccgc|TGCT
Acc increased375wt: 0.39 / mu: 0.78wt: GGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCG
mu: GGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCG		 gctg|CACA
Acc increased378wt: 0.51 / mu: 0.80wt: TGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGCAG
mu: TGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGCAG		 gcac|AGGT
Acc increased376wt: 0.46 / mu: 0.82wt: GCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGC
mu: GCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGC		 ctgc|ACAG
Acc gained3710.77mu: CCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTC ccct|GCTG
Donor gained3740.36mu: CCTGCTGCACAGGTC TGCT|gcac
distance from splice site 75
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      13ALETLPRLCRPAAAQVGGSPQRLL
mutated  not conserved    13ALETLPRLCRPPAAQVGGSPQRL
Ptroglodytes  no homologue    
Mmulatta  no alignment  ENSMMUG00000017249  n/a
Fcatus  no alignment  ENSFCAG00000012337  n/a
Mmusculus  no alignment  ENSMUSG00000010080  n/a
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000011398  n/a
Drerio  no alignment  ENSDARG00000078953  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
12144DOMAINENTH.lost
1717MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
2525BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
3030BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
6363BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
7373BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
176176MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
182182MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
186186MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
209228REPEATUIM 1.might get lost (downstream of altered splice site)
236255REPEATUIM 2.might get lost (downstream of altered splice site)
321323REPEAT1.might get lost (downstream of altered splice site)
321406REGION5 X 3 AA repeats of [DE]-P-W.might get lost (downstream of altered splice site)
344346REPEAT2.might get lost (downstream of altered splice site)
371373REPEAT3.might get lost (downstream of altered splice site)
375375CONFLICTR -> K (in Ref. 2; BAF85666).might get lost (downstream of altered splice site)
387389REPEAT4.might get lost (downstream of altered splice site)
393393MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396CONFLICTH -> Y (in Ref. 2; BAA91378).might get lost (downstream of altered splice site)
404406REPEAT5.might get lost (downstream of altered splice site)
417417CONFLICTG -> S (in Ref. 2; BAF85666).might get lost (downstream of altered splice site)
524526REPEAT1.might get lost (downstream of altered splice site)
524631REGION3 X 3 AA repeats of N-P-F.might get lost (downstream of altered splice site)
537539REPEAT2.might get lost (downstream of altered splice site)
629631REPEAT3.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1983 / 1983
position (AA) of stopcodon in wt / mu AA sequence 661 / 661
position of stopcodon in wt / mu cDNA 2120 / 2120
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 138 / 138
chromosome 17
strand 1
last intron/exon boundary 1807
theoretical NMD boundary in CDS 1619
length of CDS 1983
coding sequence (CDS) position 37
cDNA position
(for ins/del: last normal base / first normal base)		 174
gDNA position
(for ins/del: last normal base / first normal base)		 369
chromosomal position
(for ins/del: last normal base / first normal base)		 48610272
original gDNA sequence snippet TCCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGG
altered gDNA sequence snippet TCCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGG
original cDNA sequence snippet TCCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGG
altered cDNA sequence snippet TCCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGG
wildtype AA sequence MALETLPRLC RPAAAQVGGS PQRLLGLGLG PREPALEPHV EPKDAAALLT RQPILQDCDL
ATVALSPPPP AGARATHLQV SSHDDLRTPA PGEEHRAQLL RGRNQVAFTE VMGMLWRRLN
DSGKNWRHVY KALTLLDYLL KTGSERVAHQ CRENLYTIQT LKDFQYIDRD GKDQGVNVRE
KVKQVMALLK DEERLRQERT HALKTKERMA LEGIGIGSGQ LGFSRRYGED YSRSRGSPSS
YNSSSSSPRY TSDLEQARPQ TSGEEELQLQ LALAMSREEA EKEVRSWQGD GSPMANGAGA
VVHHQRDREP EREERKEEEK LKTSQSSILD LADIFVPALA PPSTHCSADP WDIPGFRPNT
EASGSSWGPS ADPWSPIPSG TVLSRSQPWD LTPMLSSSEP WGRTPVLPAG PPTTDPWALN
SPHHKLPSTG ADPWGASLET SDTPGGASTF DPFAKPPEST ETKEGLEQAL PSGKPSSPVE
LDLFGDPSPS SKQNGTKEPD ALDLGILGEA LTQPSKEARA CRTPESFLGP SASSLVNLDS
LVKAPQVAKT RNPFLTGLSA PSPTNPFGAG EPGRPTLNQM RTGSPALGLA GGPVGAPLGS
MTYSASLPLP LSSVPAGLTL PASVSVFPQA GAFAPQPLLP TPSSAGPRPP PPQTGTNPFL
*
mutated AA sequence MALETLPRLC RPPAAQVGGS PQRLLGLGLG PREPALEPHV EPKDAAALLT RQPILQDCDL
ATVALSPPPP AGARATHLQV SSHDDLRTPA PGEEHRAQLL RGRNQVAFTE VMGMLWRRLN
DSGKNWRHVY KALTLLDYLL KTGSERVAHQ CRENLYTIQT LKDFQYIDRD GKDQGVNVRE
KVKQVMALLK DEERLRQERT HALKTKERMA LEGIGIGSGQ LGFSRRYGED YSRSRGSPSS
YNSSSSSPRY TSDLEQARPQ TSGEEELQLQ LALAMSREEA EKEVRSWQGD GSPMANGAGA
VVHHQRDREP EREERKEEEK LKTSQSSILD LADIFVPALA PPSTHCSADP WDIPGFRPNT
EASGSSWGPS ADPWSPIPSG TVLSRSQPWD LTPMLSSSEP WGRTPVLPAG PPTTDPWALN
SPHHKLPSTG ADPWGASLET SDTPGGASTF DPFAKPPEST ETKEGLEQAL PSGKPSSPVE
LDLFGDPSPS SKQNGTKEPD ALDLGILGEA LTQPSKEARA CRTPESFLGP SASSLVNLDS
LVKAPQVAKT RNPFLTGLSA PSPTNPFGAG EPGRPTLNQM RTGSPALGLA GGPVGAPLGS
MTYSASLPLP LSSVPAGLTL PASVSVFPQA GAFAPQPLLP TPSSAGPRPP PPQTGTNPFL
*
speed 0.76 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: without_aae, prob: 0.999998712993056 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr17:48610272G>CN/A show variant in all transcripts   IGV
HGNC symbol EPN3
Ensembl transcript ID ENST00000541226
Genbank transcript ID N/A
UniProt peptide Q9H201
alteration type single base exchange
alteration region intron
DNA changes g.369G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs755046
databasehomozygous (C/C)heterozygousallele carriers
1000G16437422385
ExAC314219025044
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3960.003
-0.0890
(flanking)0.010
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -73) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased380wt: 0.9016 / mu: 0.9573 (marginal change - not scored)wt: TGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGCAGAG
mu: TGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGCAGAG		 acag|GTCG
Acc marginally increased370wt: 0.2597 / mu: 0.2776 (marginal change - not scored)wt: CCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGT
mu: CCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGT		 ccgc|TGCT
Acc increased375wt: 0.39 / mu: 0.78wt: GGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCG
mu: GGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCG		 gctg|CACA
Acc increased378wt: 0.51 / mu: 0.80wt: TGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGCAG
mu: TGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGCAG		 gcac|AGGT
Acc increased376wt: 0.46 / mu: 0.82wt: GCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGC
mu: GCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGC		 ctgc|ACAG
Acc gained3710.77mu: CCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTC ccct|GCTG
Donor gained3740.36mu: CCTGCTGCACAGGTC TGCT|gcac
distance from splice site 67
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
88BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
1111BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
12144DOMAINENTH.might get lost (downstream of altered splice site)
1717MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
2525BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
3030BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
6363BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
7373BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
176176MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
182182MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
186186MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
209228REPEATUIM 1.might get lost (downstream of altered splice site)
236255REPEATUIM 2.might get lost (downstream of altered splice site)
321323REPEAT1.might get lost (downstream of altered splice site)
321406REGION5 X 3 AA repeats of [DE]-P-W.might get lost (downstream of altered splice site)
344346REPEAT2.might get lost (downstream of altered splice site)
371373REPEAT3.might get lost (downstream of altered splice site)
375375CONFLICTR -> K (in Ref. 2; BAF85666).might get lost (downstream of altered splice site)
387389REPEAT4.might get lost (downstream of altered splice site)
393393MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396CONFLICTH -> Y (in Ref. 2; BAA91378).might get lost (downstream of altered splice site)
404406REPEAT5.might get lost (downstream of altered splice site)
417417CONFLICTG -> S (in Ref. 2; BAF85666).might get lost (downstream of altered splice site)
524526REPEAT1.might get lost (downstream of altered splice site)
524631REGION3 X 3 AA repeats of N-P-F.might get lost (downstream of altered splice site)
537539REPEAT2.might get lost (downstream of altered splice site)
629631REPEAT3.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 330 / 330
chromosome 17
strand 1
last intron/exon boundary 1578
theoretical NMD boundary in CDS 1198
length of CDS 753
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 369
chromosomal position
(for ins/del: last normal base / first normal base)		 48610272
original gDNA sequence snippet TCCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGG
altered gDNA sequence snippet TCCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGMLWRRLND SGKNWRHVYK ALTLLDYLLK TGSERVAHQC RENLYTIQTL KDFQYIDRDG
KDQGVNVREK VKQVMALLKD EERLRQERTH ALKTKERMAL EGIGIGSGQL GFSRRYGEDY
SRSRGSPSSY NSSSSSPRYT SDLEQARPQT SGEEELQLQL ALAMSREEAE KEVRSWQGDG
SPMANGAGAV VHHQRDREPE REERKEEEKL KTSQVLGRTQ RPVDPPGGLL QTPGLRSPQE
PSCPEASPGI *
mutated AA sequence N/A
speed 0.27 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: without_aae, prob: 0.999978082375069 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr17:48610272G>CN/A show variant in all transcripts   IGV
HGNC symbol EPN3
Ensembl transcript ID ENST00000268933
Genbank transcript ID NM_017957
UniProt peptide Q9H201
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.369G>C
g.369G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs755046
databasehomozygous (C/C)heterozygousallele carriers
1000G16437422385
ExAC314219025044
regulatory features CTCF, Transcription Factor, CCCTC-binding factor
DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Promoter Associated, Regulatory Feature, Promoter like regulatory feature
phyloP / phastCons
PhyloPPhastCons
(flanking)0.3960.003
-0.0890
(flanking)0.010
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -69) | splice site change before start ATG (at aa -68) | splice site change before start ATG (at aa -67) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased380wt: 0.9016 / mu: 0.9573 (marginal change - not scored)wt: TGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGCAGAG
mu: TGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGCAGAG		 acag|GTCG
Acc marginally increased370wt: 0.2597 / mu: 0.2776 (marginal change - not scored)wt: CCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGT
mu: CCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGT		 ccgc|TGCT
Acc increased375wt: 0.39 / mu: 0.78wt: GGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCG
mu: GGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCG		 gctg|CACA
Acc increased378wt: 0.51 / mu: 0.80wt: TGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGCAG
mu: TGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGCAG		 gcac|AGGT
Acc increased376wt: 0.46 / mu: 0.82wt: GCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGGTCACCGC
mu: GCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTCACCGC		 ctgc|ACAG
Acc gained3710.77mu: CCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGGTC ccct|GCTG
Donor gained3740.36mu: CCTGCTGCACAGGTC TGCT|gcac
distance from splice site 75
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
88BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
1111BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
12144DOMAINENTH.might get lost (downstream of altered splice site)
1717MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
2525BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
3030BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
6363BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
7373BINDINGPhosphatidylinositol lipid headgroup (By similarity).might get lost (downstream of altered splice site)
176176MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
182182MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
186186MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
209228REPEATUIM 1.might get lost (downstream of altered splice site)
236255REPEATUIM 2.might get lost (downstream of altered splice site)
321323REPEAT1.might get lost (downstream of altered splice site)
321406REGION5 X 3 AA repeats of [DE]-P-W.might get lost (downstream of altered splice site)
344346REPEAT2.might get lost (downstream of altered splice site)
371373REPEAT3.might get lost (downstream of altered splice site)
375375CONFLICTR -> K (in Ref. 2; BAF85666).might get lost (downstream of altered splice site)
387389REPEAT4.might get lost (downstream of altered splice site)
393393MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
396396CONFLICTH -> Y (in Ref. 2; BAA91378).might get lost (downstream of altered splice site)
404406REPEAT5.might get lost (downstream of altered splice site)
417417CONFLICTG -> S (in Ref. 2; BAF85666).might get lost (downstream of altered splice site)
524526REPEAT1.might get lost (downstream of altered splice site)
524631REGION3 X 3 AA repeats of N-P-F.might get lost (downstream of altered splice site)
537539REPEAT2.might get lost (downstream of altered splice site)
629631REPEAT3.might get lost (downstream of altered splice site)
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 580 / 580
chromosome 17
strand 1
last intron/exon boundary 2165
theoretical NMD boundary in CDS 1535
length of CDS 1899
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 369
gDNA position
(for ins/del: last normal base / first normal base)		 369
chromosomal position
(for ins/del: last normal base / first normal base)		 48610272
original gDNA sequence snippet TCCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGG
altered gDNA sequence snippet TCCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGG
original cDNA sequence snippet TCCCGAGGCTGTGCCGTCCCGCTGCTGCACAGGTCGGAGGG
altered cDNA sequence snippet TCCCGAGGCTGTGCCGTCCCCCTGCTGCACAGGTCGGAGGG
wildtype AA sequence MTTSALRRQV KNIVHNYSEA EIKVREATSN DPWGPPSSLM SEIADLTFNT VAFTEVMGML
WRRLNDSGKN WRHVYKALTL LDYLLKTGSE RVAHQCRENL YTIQTLKDFQ YIDRDGKDQG
VNVREKVKQV MALLKDEERL RQERTHALKT KERMALEGIG IGSGQLGFSR RYGEDYSRSR
GSPSSYNSSS SSPRYTSDLE QARPQTSGEE ELQLQLALAM SREEAEKPVP PASHRDEDLQ
LQLALRLSRQ EHEKEVRSWQ GDGSPMANGA GAVVHHQRDR EPEREERKEE EKLKTSQSSI
LDLADIFVPA LAPPSTHCSA DPWDIPGFRP NTEASGSSWG PSADPWSPIP SGTVLSRSQP
WDLTPMLSSS EPWGRTPVLP AGPPTTDPWA LNSPHHKLPS TGADPWGASL ETSDTPGGAS
TFDPFAKPPE STETKEGLEQ ALPSGKPSSP VELDLFGDPS PSSKQNGTKE PDALDLGILG
EALTQPSKEA RACRTPESFL GPSASSLVNL DSLVKAPQVA KTRNPFLTGL SAPSPTNPFG
AGEPGRPTLN QMRTGSPALG LAGGPVGAPL GSMTYSASLP LPLSSVPAGL TLPASVSVFP
QAGAFAPQPL LPTPSSAGPR PPPPQTGTNP FL*
mutated AA sequence N/A
speed 0.34 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