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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000341223
Querying Taster for transcript #2: ENST00000298159
Querying Taster for transcript #3: ENST00000555765
Querying Taster for transcript #4: ENST00000556161
MT speed 0 s - this script 4.22088 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CFL2disease_causing_automatic0.999999999990361simple_aaeaffected0A35Tsingle base exchangers80358250show file
CFL2disease_causing_automatic0.999999999990361simple_aaeaffected0A35Tsingle base exchangers80358250show file
CFL2disease_causing_automatic0.999999999990361simple_aaeaffected0A18Tsingle base exchangers80358250show file
CFL2disease_causing_automatic0.999999999990361simple_aaeaffected0A18Tsingle base exchangers80358250show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

disease causing

 Model: simple_aae, prob: 0.999999999990361 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD149913)
  • known disease mutation at this position (HGMD CM070054)
  • known disease mutation: rs8160 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:35182668C>TN/A show variant in all transcripts   IGV
HGNC symbol CFL2
Ensembl transcript ID ENST00000341223
Genbank transcript ID NM_001243645
UniProt peptide Q9Y281
alteration type single base exchange
alteration region CDS
DNA changes c.103G>A
cDNA.255G>A
g.1362G>A
AA changes A35T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 35
frameshift no
known variant Reference ID: rs80358250
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8160 (pathogenic for Nemaline myopathy 7) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.4241
6.4241
(flanking)1.7831
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 increased1359wt: 0.5365 / mu: 0.5458 (marginal change - not scored)wt: GAAAGAAAGCAGTTC
mu: GAAAGAAAACAGTTC		 AAGA|aagc
Donor marginally increased1355wt: 0.2204 / mu: 0.2419 (marginal change - not scored)wt: AAGAGAAAGAAAGCA
mu: AAGAGAAAGAAAACA		 GAGA|aaga
Donor increased1357wt: 0.86 / mu: 0.95wt: GAGAAAGAAAGCAGT
mu: GAGAAAGAAAACAGT		 GAAA|gaaa
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      35STQEEIKKRKKAVLFCLSDDKRQI
mutated  not conserved    35STQEEIKKRKKTVLFCLSDDKRQ
Ptroglodytes  all identical  ENSPTRG00000006254  35STQEEIKKRKKAVLFCLSDDKRQ
Mmulatta  all identical  ENSMMUG00000018331  34STQEEIKKRKKAVLFCLSDDKRQ
Fcatus  all identical  ENSFCAG00000008480  34STQEEIKKRKKAVLFCLSDDKRQ
Mmusculus  all identical  ENSMUSG00000062929  35STQEEIKKRKKAVLFCLSDDKRQ
Ggallus  all identical  ENSGALG00000010027  35STPEEIKKRKKAVLFCLSDDKKQ
Trubripes  all identical  ENSTRUG00000007799  35QTPEEVKKRKKAVLFCMSNDTKK
Drerio  all identical  ENSDARG00000014106  35SSSDEVKKRKKAVLFCLSDDKKK
Dmelanogaster  not conserved  FBgn0011726  35TTYEEIKKDKKHRYVIFYIRDEK-Q
Celegans  not conserved  C38C3.5  35----EGRKEYRYIIFKIDENK--
Xtropicalis  all identical  ENSXETG00000012301  35STPEEIKKRKKAVLFCLSPDKKE
protein features
start (aa)end (aa)featuredetails 
4153DOMAINADF-H.lost
3034MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8989MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
9292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 501 / 501
position (AA) of stopcodon in wt / mu AA sequence 167 / 167
position of stopcodon in wt / mu cDNA 653 / 653
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 153 / 153
chromosome 14
strand -1
last intron/exon boundary 541
theoretical NMD boundary in CDS 338
length of CDS 501
coding sequence (CDS) position 103
cDNA position
(for ins/del: last normal base / first normal base)		 255
gDNA position
(for ins/del: last normal base / first normal base)		 1362
chromosomal position
(for ins/del: last normal base / first normal base)		 35182668
original gDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered gDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
original cDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered cDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
wildtype AA sequence MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKAVLFCL SDDKRQIIVE EAKQILVGDI
GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV FIFWAPESAP LKSKMIYASS
KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG EKLGGNVVVS LEGKPL*
mutated AA sequence MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKTVLFCL SDDKRQIIVE EAKQILVGDI
GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV FIFWAPESAP LKSKMIYASS
KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG EKLGGNVVVS LEGKPL*
speed 0.85 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

disease causing

 Model: simple_aae, prob: 0.999999999990361 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD149913)
  • known disease mutation at this position (HGMD CM070054)
  • known disease mutation: rs8160 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:35182668C>TN/A show variant in all transcripts   IGV
HGNC symbol CFL2
Ensembl transcript ID ENST00000298159
Genbank transcript ID NM_138638
UniProt peptide Q9Y281
alteration type single base exchange
alteration region CDS
DNA changes c.103G>A
cDNA.253G>A
g.1362G>A
AA changes A35T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 35
frameshift no
known variant Reference ID: rs80358250
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8160 (pathogenic for Nemaline myopathy 7) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.4241
6.4241
(flanking)1.7831
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 increased1359wt: 0.5365 / mu: 0.5458 (marginal change - not scored)wt: GAAAGAAAGCAGTTC
mu: GAAAGAAAACAGTTC		 AAGA|aagc
Donor marginally increased1355wt: 0.2204 / mu: 0.2419 (marginal change - not scored)wt: AAGAGAAAGAAAGCA
mu: AAGAGAAAGAAAACA		 GAGA|aaga
Donor increased1357wt: 0.86 / mu: 0.95wt: GAGAAAGAAAGCAGT
mu: GAGAAAGAAAACAGT		 GAAA|gaaa
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      35STQEEIKKRKKAVLFCLSDDKRQI
mutated  not conserved    35STQEEIKKRKKTVLFCLSDDKRQ
Ptroglodytes  all identical  ENSPTRG00000006254  35STQEEIKKRKKAVLFCLSDDKRQ
Mmulatta  all identical  ENSMMUG00000018331  34STQEEIKKRKKAVLFCLSDDKRQ
Fcatus  all identical  ENSFCAG00000008480  34STQEEIKKRKKAVLFCLSDDKRQ
Mmusculus  all identical  ENSMUSG00000062929  35STQEEIKKRKKAVLFCLSDDKRQ
Ggallus  all identical  ENSGALG00000010027  35STPEEIKKRKKAVLFCLSDDKKQ
Trubripes  all identical  ENSTRUG00000007799  35QTPEEVKKRKKAVLFCMSNDTKK
Drerio  all identical  ENSDARG00000014106  35SSSDEVKKRKKAVLFCLSDDKKK
Dmelanogaster  not conserved  FBgn0011726  35TTYEEIKKDKKHRYVIFYIRDEK-Q
Celegans  not conserved  C38C3.5  35----EGRKEYRYIIFKIDENK--
Xtropicalis  all identical  ENSXETG00000012301  35STPEEIKKRKKAVLFCLSPDKKE
protein features
start (aa)end (aa)featuredetails 
4153DOMAINADF-H.lost
3034MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8989MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
9292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 501 / 501
position (AA) of stopcodon in wt / mu AA sequence 167 / 167
position of stopcodon in wt / mu cDNA 651 / 651
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 151 / 151
chromosome 14
strand -1
last intron/exon boundary 539
theoretical NMD boundary in CDS 338
length of CDS 501
coding sequence (CDS) position 103
cDNA position
(for ins/del: last normal base / first normal base)		 253
gDNA position
(for ins/del: last normal base / first normal base)		 1362
chromosomal position
(for ins/del: last normal base / first normal base)		 35182668
original gDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered gDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
original cDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered cDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
wildtype AA sequence MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKAVLFCL SDDKRQIIVE EAKQILVGDI
GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV FIFWAPESAP LKSKMIYASS
KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG EKLGGNVVVS LEGKPL*
mutated AA sequence MASGVTVNDE VIKVFNDMKV RKSSTQEEIK KRKKTVLFCL SDDKRQIIVE EAKQILVGDI
GDTVEDPYTS FVKLLPLNDC RYALYDATYE TKESKKEDLV FIFWAPESAP LKSKMIYASS
KDAIKKKFTG IKHEWQVNGL DDIKDRSTLG EKLGGNVVVS LEGKPL*
speed 0.84 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

disease causing

 Model: simple_aae, prob: 0.999999999990361 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD149913)
  • known disease mutation at this position (HGMD CM070054)
  • known disease mutation: rs8160 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:35182668C>TN/A show variant in all transcripts   IGV
HGNC symbol CFL2
Ensembl transcript ID ENST00000555765
Genbank transcript ID N/A
UniProt peptide Q9Y281
alteration type single base exchange
alteration region CDS
DNA changes c.52G>A
cDNA.221G>A
g.1362G>A
AA changes A18T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs80358250
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8160 (pathogenic for Nemaline myopathy 7) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.4241
6.4241
(flanking)1.7831
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 increased1359wt: 0.5365 / mu: 0.5458 (marginal change - not scored)wt: GAAAGAAAGCAGTTC
mu: GAAAGAAAACAGTTC		 AAGA|aagc
Donor marginally increased1355wt: 0.2204 / mu: 0.2419 (marginal change - not scored)wt: AAGAGAAAGAAAGCA
mu: AAGAGAAAGAAAACA		 GAGA|aaga
Donor increased1357wt: 0.86 / mu: 0.95wt: GAGAAAGAAAGCAGT
mu: GAGAAAGAAAACAGT		 GAAA|gaaa
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18STQEEIKKRKKAVLFCLSDDKRQI
mutated  not conserved    18STQEEIKKRKKTVLFCLSDDKRQ
Ptroglodytes  all identical  ENSPTRG00000006254  35STQEEIKKRKKAVLFCLSDDKRQ
Mmulatta  all identical  ENSMMUG00000018331  34STQEEIKKRKKAVLFCLSDDKRQ
Fcatus  all identical  ENSFCAG00000008480  34STQEEIKKRKKAVLFCLSDDKRQ
Mmusculus  all identical  ENSMUSG00000062929  35STQEEIKKRKKAVLFCLSDDKRQ
Ggallus  all identical  ENSGALG00000010027  35STPEEIKKRKKAVLFCLSDDKKQ
Trubripes  all identical  ENSTRUG00000007799  35QTPEEVKKRKKAVLFCMSNDTKK
Drerio  all identical  ENSDARG00000014106  35SSSDEVKKRKKAVLFCLSDDKKK
Dmelanogaster  not conserved  FBgn0011726  24TTYEEIKKDKKHRYVIFYIRDEK-Q
Celegans  not conserved  C38C3.5  25SFQKLSEGRKEYRYIIFKIDENK
Xtropicalis  all identical  ENSXETG00000012301  35STPEEIKKRKKAVLFCLSPDKKE
protein features
start (aa)end (aa)featuredetails 
4153DOMAINADF-H.lost
2424MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
3034MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8989MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
9292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 450 / 450
position (AA) of stopcodon in wt / mu AA sequence 150 / 150
position of stopcodon in wt / mu cDNA 619 / 619
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 170 / 170
chromosome 14
strand -1
last intron/exon boundary 507
theoretical NMD boundary in CDS 287
length of CDS 450
coding sequence (CDS) position 52
cDNA position
(for ins/del: last normal base / first normal base)		 221
gDNA position
(for ins/del: last normal base / first normal base)		 1362
chromosomal position
(for ins/del: last normal base / first normal base)		 35182668
original gDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered gDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
original cDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered cDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
wildtype AA sequence MKVRKSSTQE EIKKRKKAVL FCLSDDKRQI IVEEAKQILV GDIGDTVEDP YTSFVKLLPL
NDCRYALYDA TYETKESKKE DLVFIFWAPE SAPLKSKMIY ASSKDAIKKK FTGIKHEWQV
NGLDDIKDRS TLGEKLGGNV VVSLEGKPL*
mutated AA sequence MKVRKSSTQE EIKKRKKTVL FCLSDDKRQI IVEEAKQILV GDIGDTVEDP YTSFVKLLPL
NDCRYALYDA TYETKESKKE DLVFIFWAPE SAPLKSKMIY ASSKDAIKKK FTGIKHEWQV
NGLDDIKDRS TLGEKLGGNV VVSLEGKPL*
speed 0.59 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

disease causing

 Model: simple_aae, prob: 0.999999999990361 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CD149913)
  • known disease mutation at this position (HGMD CM070054)
  • known disease mutation: rs8160 (pathogenic)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:35182668C>TN/A show variant in all transcripts   IGV
HGNC symbol CFL2
Ensembl transcript ID ENST00000556161
Genbank transcript ID N/A
UniProt peptide Q9Y281
alteration type single base exchange
alteration region CDS
DNA changes c.52G>A
cDNA.141G>A
g.1362G>A
AA changes A18T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 18
frameshift no
known variant Reference ID: rs80358250
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs8160 (pathogenic for Nemaline myopathy 7) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)

known disease mutation at this position, please check HGMD for details (HGMD ID CD149913)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
known disease mutation at this position, please check HGMD for details (HGMD ID CM070054)
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K4me1, Histone, Histone 3 Lysine 4 Mono-Methylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)6.4241
6.4241
(flanking)1.7831
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 increased1359wt: 0.5365 / mu: 0.5458 (marginal change - not scored)wt: GAAAGAAAGCAGTTC
mu: GAAAGAAAACAGTTC		 AAGA|aagc
Donor marginally increased1355wt: 0.2204 / mu: 0.2419 (marginal change - not scored)wt: AAGAGAAAGAAAGCA
mu: AAGAGAAAGAAAACA		 GAGA|aaga
Donor increased1357wt: 0.86 / mu: 0.95wt: GAGAAAGAAAGCAGT
mu: GAGAAAGAAAACAGT		 GAAA|gaaa
distance from splice site 100
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      18STQEEIKKRKKAVLFCLSDDKRQI
mutated  not conserved    18STQEEIKKRKKTVLFCLSDDKRQ
Ptroglodytes  all identical  ENSPTRG00000006254  35STQEEIKKRKKAVLFCLSDDKRQ
Mmulatta  all identical  ENSMMUG00000018331  34STQEEIKKRKKAVLFCLSDDKRQ
Fcatus  all identical  ENSFCAG00000008480  34STQEEIKKRKKAVLFCLSDDKRQ
Mmusculus  all identical  ENSMUSG00000062929  35STQEEIKKRKKAVLFCLSDDKRQ
Ggallus  all identical  ENSGALG00000010027  35STPEEIKKRKKAVLFCLSDDKKQ
Trubripes  all identical  ENSTRUG00000007799  35QTPEEVKKRKKAVLFCMSNDTKK
Drerio  all identical  ENSDARG00000014106  35SSSDEVKKRKKAVLFCLSDDKKK
Dmelanogaster  not conserved  FBgn0011726  24TTYEEIKKDKKHRYVIFYIRDEK-Q
Celegans  not conserved  C38C3.5  25SFQKLSEGRKEYRYIIFKIDENK
Xtropicalis  all identical  ENSXETG00000012301  35STPEEIKKRKKAVLFCLSPDKKE
protein features
start (aa)end (aa)featuredetails 
4153DOMAINADF-H.lost
2424MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
3034MOTIFNuclear localization signal (Potential).might get lost (downstream of altered splice site)
8989MOD_RESPhosphotyrosine.might get lost (downstream of altered splice site)
9292MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 450 / 450
position (AA) of stopcodon in wt / mu AA sequence 150 / 150
position of stopcodon in wt / mu cDNA 539 / 539
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 90 / 90
chromosome 14
strand -1
last intron/exon boundary 427
theoretical NMD boundary in CDS 287
length of CDS 450
coding sequence (CDS) position 52
cDNA position
(for ins/del: last normal base / first normal base)		 141
gDNA position
(for ins/del: last normal base / first normal base)		 1362
chromosomal position
(for ins/del: last normal base / first normal base)		 35182668
original gDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered gDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
original cDNA sequence snippet AGATCAAAAAGAGAAAGAAAGCAGTTCTCTTCTGTTTAAGC
altered cDNA sequence snippet AGATCAAAAAGAGAAAGAAAACAGTTCTCTTCTGTTTAAGC
wildtype AA sequence MKVRKSSTQE EIKKRKKAVL FCLSDDKRQI IVEEAKQILV GDIGDTVEDP YTSFVKLLPL
NDCRYALYDA TYETKESKKE DLVFIFWAPE SAPLKSKMIY ASSKDAIKKK FTGIKHEWQV
NGLDDIKDRS TLGEKLGGNV VVSLEGKPL*
mutated AA sequence MKVRKSSTQE EIKKRKKTVL FCLSDDKRQI IVEEAKQILV GDIGDTVEDP YTSFVKLLPL
NDCRYALYDA TYETKESKKE DLVFIFWAPE SAPLKSKMIY ASSKDAIKKK FTGIKHEWQV
NGLDDIKDRS TLGEKLGGNV VVSLEGKPL*
speed 0.62 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