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: ENST00000404241
Querying Taster for transcript #2: ENST00000337304
Querying Taster for transcript #3: ENST00000396680
MT speed 0 s - this script 2.383682 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATF4polymorphism_automatic0.99975416762019simple_aaeaffectedQ22Psingle base exchangers4894show file
ATF4polymorphism_automatic0.99975416762019simple_aaeaffectedQ22Psingle base exchangers4894show file
ATF4polymorphism_automatic0.99975416762019simple_aaeaffectedQ22Psingle base exchangers4894show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00024583237980979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1617571)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:39917515A>CN/A show variant in all transcripts   IGV
HGNC symbol ATF4
Ensembl transcript ID ENST00000404241
Genbank transcript ID N/A
UniProt peptide P18848
alteration type single base exchange
alteration region CDS
DNA changes c.65A>C
cDNA.838A>C
g.1816A>C
AA changes Q22P Score: 76 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs4894
databasehomozygous (C/C)heterozygousallele carriers
1000G1999731172
ExAC57422128327025

known disease mutation at this position, please check HGMD for details (HGMD ID CM1617571)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6811
1.6811
(flanking)2.2561
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1821wt: 0.61 / mu: 0.92wt: TGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAGAAAGC
mu: TGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAAAGC		 tcgg|GTTT
Acc increased1820wt: 0.35 / mu: 0.69wt: ATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAGAAAG
mu: ATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAAAG		 gtcg|GGTT
Acc increased1812wt: 0.79 / mu: 0.88wt: GGGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCT
mu: GGGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCT		 ttcg|ACCA
Acc marginally increased1813wt: 0.7896 / mu: 0.8565 (marginal change - not scored)wt: GGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTG
mu: GGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTG		 tcga|CCAG
Acc marginally increased1811wt: 0.9115 / mu: 0.9192 (marginal change - not scored)wt: GGGGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGC
mu: GGGGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGC		 cttc|GACC
Acc gained18180.32mu: TGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAA ccgt|CGGG
distance from splice site 157
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22VLVGDLMSPFDQSGLGAEESLGLL
mutated  not conserved    22VLVGDLMSPFDPSGLGAEESLGL
Ptroglodytes  all identical  ENSPTRG00000014398  22VLVGDLMSPFDQSGLGAEESLGL
Mmulatta  all identical  ENSMMUG00000004499  22VLVGDLMSPFDQSGLGAEESLGL
Fcatus  all identical  ENSFCAG00000009288  22VLGGDLMSPFDQSGLGAEVSLGL
Mmusculus  all identical  ENSMUSG00000042406  22VLAGDLMSPFDQSGLGAEESLGL
Ggallus  all identical  ENSGALG00000012135  19MLLGE-SSPFSQPCSVAEESLGL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000039515  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024806  22MLLGDLLSPFNQSFLAAEKSLGL
protein features
start (aa)end (aa)featuredetails 
6969MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
278341DOMAINbZIP.might get lost (downstream of altered splice site)
280300REGIONBasic motif (By similarity).might get lost (downstream of altered splice site)
280340COILEDmight get lost (downstream of altered splice site)
284284CONFLICTK -> R (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
288340HELIXmight get lost (downstream of altered splice site)
290290CONFLICTT -> R (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
305341REGIONInteraction with GABBR1 (By similarity).might get lost (downstream of altered splice site)
306334REGIONLeucine-zipper (By similarity).might get lost (downstream of altered splice site)
329331CONFLICTKEI -> REK (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
338338CONFLICTI -> L (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1056 / 1056
position (AA) of stopcodon in wt / mu AA sequence 352 / 352
position of stopcodon in wt / mu cDNA 1829 / 1829
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 774 / 774
chromosome 22
strand 1
last intron/exon boundary 1000
theoretical NMD boundary in CDS 176
length of CDS 1056
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 838
gDNA position
(for ins/del: last normal base / first normal base)		 1816
chromosomal position
(for ins/del: last normal base / first normal base)		 39917515
original gDNA sequence snippet CTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAG
altered gDNA sequence snippet CTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAG
original cDNA sequence snippet CTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAG
altered cDNA sequence snippet CTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAG
wildtype AA sequence MTEMSFLSSE VLVGDLMSPF DQSGLGAEES LGLLDDYLEV AKHFKPHGFS SDKAKAGSSE
WLAVDGLVSP SNNSKEDAFS GTDWMLEKMD LKEFDLDALL GIDDLETMPD DLLTTLDDTC
DLFAPLVQET NKQPPQTVNP IGHLPESLTK PDQVAPFTFL QPLPLSPGVL SSTPDHSFSL
ELGSEVDITE GDRKPDYTAY VAMIPQCIKE EDTPSDNDSG ICMSPESYLG SPQHSPSTRG
SPNRSLPSPG VLCGSARPKP YDPPGEKMVA AKVKGEKLDK KLKKMEQNKT AATRYRQKKR
AEQEALTGEC KELEKKNEAL KERADSLAKE IQYLKDLIEE VRKARGKKRV P*
mutated AA sequence MTEMSFLSSE VLVGDLMSPF DPSGLGAEES LGLLDDYLEV AKHFKPHGFS SDKAKAGSSE
WLAVDGLVSP SNNSKEDAFS GTDWMLEKMD LKEFDLDALL GIDDLETMPD DLLTTLDDTC
DLFAPLVQET NKQPPQTVNP IGHLPESLTK PDQVAPFTFL QPLPLSPGVL SSTPDHSFSL
ELGSEVDITE GDRKPDYTAY VAMIPQCIKE EDTPSDNDSG ICMSPESYLG SPQHSPSTRG
SPNRSLPSPG VLCGSARPKP YDPPGEKMVA AKVKGEKLDK KLKKMEQNKT AATRYRQKKR
AEQEALTGEC KELEKKNEAL KERADSLAKE IQYLKDLIEE VRKARGKKRV P*
speed 0.16 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: 0.00024583237980979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1617571)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:39917515A>CN/A show variant in all transcripts   IGV
HGNC symbol ATF4
Ensembl transcript ID ENST00000337304
Genbank transcript ID NM_001675
UniProt peptide P18848
alteration type single base exchange
alteration region CDS
DNA changes c.65A>C
cDNA.947A>C
g.1816A>C
AA changes Q22P Score: 76 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs4894
databasehomozygous (C/C)heterozygousallele carriers
1000G1999731172
ExAC57422128327025

known disease mutation at this position, please check HGMD for details (HGMD ID CM1617571)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6811
1.6811
(flanking)2.2561
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1821wt: 0.61 / mu: 0.92wt: TGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAGAAAGC
mu: TGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAAAGC		 tcgg|GTTT
Acc increased1820wt: 0.35 / mu: 0.69wt: ATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAGAAAG
mu: ATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAAAG		 gtcg|GGTT
Acc increased1812wt: 0.79 / mu: 0.88wt: GGGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCT
mu: GGGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCT		 ttcg|ACCA
Acc marginally increased1813wt: 0.7896 / mu: 0.8565 (marginal change - not scored)wt: GGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTG
mu: GGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTG		 tcga|CCAG
Acc marginally increased1811wt: 0.9115 / mu: 0.9192 (marginal change - not scored)wt: GGGGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGC
mu: GGGGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGC		 cttc|GACC
Acc gained18180.32mu: TGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAA ccgt|CGGG
distance from splice site 162
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22VLVGDLMSPFDQSGLGAEESLGLL
mutated  not conserved    22VLVGDLMSPFDPSGLGAEESLGL
Ptroglodytes  all identical  ENSPTRG00000014398  22VLVGDLMSPFDQSGLGAEESLGL
Mmulatta  all identical  ENSMMUG00000004499  22VLVGDLMSPFDQSGLGAEESLGL
Fcatus  all identical  ENSFCAG00000009288  22VLGGDLMSPFDQSGLGAEVSLGL
Mmusculus  all identical  ENSMUSG00000042406  22VLAGDLMSPFDQSGLGAEESLGL
Ggallus  all identical  ENSGALG00000012135  19MLLGE-SSPFSQPCSVAEESLGL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000039515  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024806  22MLLGDLLSPFNQSFLAAEKSLGL
protein features
start (aa)end (aa)featuredetails 
6969MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
278341DOMAINbZIP.might get lost (downstream of altered splice site)
280300REGIONBasic motif (By similarity).might get lost (downstream of altered splice site)
280340COILEDmight get lost (downstream of altered splice site)
284284CONFLICTK -> R (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
288340HELIXmight get lost (downstream of altered splice site)
290290CONFLICTT -> R (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
305341REGIONInteraction with GABBR1 (By similarity).might get lost (downstream of altered splice site)
306334REGIONLeucine-zipper (By similarity).might get lost (downstream of altered splice site)
329331CONFLICTKEI -> REK (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
338338CONFLICTI -> L (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1056 / 1056
position (AA) of stopcodon in wt / mu AA sequence 352 / 352
position of stopcodon in wt / mu cDNA 1938 / 1938
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 883 / 883
chromosome 22
strand 1
last intron/exon boundary 1109
theoretical NMD boundary in CDS 176
length of CDS 1056
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 947
gDNA position
(for ins/del: last normal base / first normal base)		 1816
chromosomal position
(for ins/del: last normal base / first normal base)		 39917515
original gDNA sequence snippet CTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAG
altered gDNA sequence snippet CTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAG
original cDNA sequence snippet CTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAG
altered cDNA sequence snippet CTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAG
wildtype AA sequence MTEMSFLSSE VLVGDLMSPF DQSGLGAEES LGLLDDYLEV AKHFKPHGFS SDKAKAGSSE
WLAVDGLVSP SNNSKEDAFS GTDWMLEKMD LKEFDLDALL GIDDLETMPD DLLTTLDDTC
DLFAPLVQET NKQPPQTVNP IGHLPESLTK PDQVAPFTFL QPLPLSPGVL SSTPDHSFSL
ELGSEVDITE GDRKPDYTAY VAMIPQCIKE EDTPSDNDSG ICMSPESYLG SPQHSPSTRG
SPNRSLPSPG VLCGSARPKP YDPPGEKMVA AKVKGEKLDK KLKKMEQNKT AATRYRQKKR
AEQEALTGEC KELEKKNEAL KERADSLAKE IQYLKDLIEE VRKARGKKRV P*
mutated AA sequence MTEMSFLSSE VLVGDLMSPF DPSGLGAEES LGLLDDYLEV AKHFKPHGFS SDKAKAGSSE
WLAVDGLVSP SNNSKEDAFS GTDWMLEKMD LKEFDLDALL GIDDLETMPD DLLTTLDDTC
DLFAPLVQET NKQPPQTVNP IGHLPESLTK PDQVAPFTFL QPLPLSPGVL SSTPDHSFSL
ELGSEVDITE GDRKPDYTAY VAMIPQCIKE EDTPSDNDSG ICMSPESYLG SPQHSPSTRG
SPNRSLPSPG VLCGSARPKP YDPPGEKMVA AKVKGEKLDK KLKKMEQNKT AATRYRQKKR
AEQEALTGEC KELEKKNEAL KERADSLAKE IQYLKDLIEE VRKARGKKRV P*
speed 0.17 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: 0.00024583237980979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1617571)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr22:39917515A>CN/A show variant in all transcripts   IGV
HGNC symbol ATF4
Ensembl transcript ID ENST00000396680
Genbank transcript ID NM_182810
UniProt peptide P18848
alteration type single base exchange
alteration region CDS
DNA changes c.65A>C
cDNA.345A>C
g.1816A>C
AA changes Q22P Score: 76 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 22
frameshift no
known variant Reference ID: rs4894
databasehomozygous (C/C)heterozygousallele carriers
1000G1999731172
ExAC57422128327025

known disease mutation at this position, please check HGMD for details (HGMD ID CM1617571)
regulatory features Promoter Associated, Regulatory Feature, Promoter like regulatory feature
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
PolII, Polymerase, RNA Polymerase II
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
Gene Associated, Regulatory Feature, Gene associated regulatory feature
HEY1, Transcription Factor, HEY1 Transcription Factor Binding
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
H3K79me2, Histone, Histone 3 Lysine 79 di-methylation
H3K9ac, Histone, Histone 3 Lysine 9 Acetylation
Yy1, Transcription Factor, Yy1 Transcription Factor Binding
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
H3K56ac, Histone, Histone 3 Lysine 56 Acetylation
H3K4me3, Histone, Histone 3 Lysine 4 Tri-Methylation
DNase1, Open Chromatin, DNase1 Hypersensitive Site
phyloP / phastCons
PhyloPPhastCons
(flanking)3.6811
1.6811
(flanking)2.2561
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased1821wt: 0.61 / mu: 0.92wt: TGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAGAAAGC
mu: TGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAAAGC		 tcgg|GTTT
Acc increased1820wt: 0.35 / mu: 0.69wt: ATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAGAAAG
mu: ATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAAAG		 gtcg|GGTT
Acc increased1812wt: 0.79 / mu: 0.88wt: GGGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCT
mu: GGGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCT		 ttcg|ACCA
Acc marginally increased1813wt: 0.7896 / mu: 0.8565 (marginal change - not scored)wt: GGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTG
mu: GGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTG		 tcga|CCAG
Acc marginally increased1811wt: 0.9115 / mu: 0.9192 (marginal change - not scored)wt: GGGGACTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGC
mu: GGGGACTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGC		 cttc|GACC
Acc gained18180.32mu: TGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAGAA ccgt|CGGG
distance from splice site 157
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      22VLVGDLMSPFDQSGLGAEESLGLL
mutated  not conserved    22VLVGDLMSPFDPSGLGAEESLGL
Ptroglodytes  all identical  ENSPTRG00000014398  22VLVGDLMSPFDQSGLGAEESLGL
Mmulatta  all identical  ENSMMUG00000004499  22VLVGDLMSPFDQSGLGAEESLGL
Fcatus  all identical  ENSFCAG00000009288  22VLGGDLMSPFDQSGLGAEVSLGL
Mmusculus  all identical  ENSMUSG00000042406  22VLAGDLMSPFDQSGLGAEESLGL
Ggallus  all identical  ENSGALG00000012135  19MLLGE-SSPFSQPCSVAEESLGL
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000039515  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000024806  22MLLGDLLSPFNQSFLAAEKSLGL
protein features
start (aa)end (aa)featuredetails 
6969MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
278341DOMAINbZIP.might get lost (downstream of altered splice site)
280300REGIONBasic motif (By similarity).might get lost (downstream of altered splice site)
280340COILEDmight get lost (downstream of altered splice site)
284284CONFLICTK -> R (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
288340HELIXmight get lost (downstream of altered splice site)
290290CONFLICTT -> R (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
305341REGIONInteraction with GABBR1 (By similarity).might get lost (downstream of altered splice site)
306334REGIONLeucine-zipper (By similarity).might get lost (downstream of altered splice site)
329331CONFLICTKEI -> REK (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
338338CONFLICTI -> L (in Ref. 5; no nucleotide entry).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1056 / 1056
position (AA) of stopcodon in wt / mu AA sequence 352 / 352
position of stopcodon in wt / mu cDNA 1336 / 1336
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 281 / 281
chromosome 22
strand 1
last intron/exon boundary 507
theoretical NMD boundary in CDS 176
length of CDS 1056
coding sequence (CDS) position 65
cDNA position
(for ins/del: last normal base / first normal base)		 345
gDNA position
(for ins/del: last normal base / first normal base)		 1816
chromosomal position
(for ins/del: last normal base / first normal base)		 39917515
original gDNA sequence snippet CTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAG
altered gDNA sequence snippet CTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAG
original cDNA sequence snippet CTTGATGTCCCCCTTCGACCAGTCGGGTTTGGGGGCTGAAG
altered cDNA sequence snippet CTTGATGTCCCCCTTCGACCCGTCGGGTTTGGGGGCTGAAG
wildtype AA sequence MTEMSFLSSE VLVGDLMSPF DQSGLGAEES LGLLDDYLEV AKHFKPHGFS SDKAKAGSSE
WLAVDGLVSP SNNSKEDAFS GTDWMLEKMD LKEFDLDALL GIDDLETMPD DLLTTLDDTC
DLFAPLVQET NKQPPQTVNP IGHLPESLTK PDQVAPFTFL QPLPLSPGVL SSTPDHSFSL
ELGSEVDITE GDRKPDYTAY VAMIPQCIKE EDTPSDNDSG ICMSPESYLG SPQHSPSTRG
SPNRSLPSPG VLCGSARPKP YDPPGEKMVA AKVKGEKLDK KLKKMEQNKT AATRYRQKKR
AEQEALTGEC KELEKKNEAL KERADSLAKE IQYLKDLIEE VRKARGKKRV P*
mutated AA sequence MTEMSFLSSE VLVGDLMSPF DPSGLGAEES LGLLDDYLEV AKHFKPHGFS SDKAKAGSSE
WLAVDGLVSP SNNSKEDAFS GTDWMLEKMD LKEFDLDALL GIDDLETMPD DLLTTLDDTC
DLFAPLVQET NKQPPQTVNP IGHLPESLTK PDQVAPFTFL QPLPLSPGVL SSTPDHSFSL
ELGSEVDITE GDRKPDYTAY VAMIPQCIKE EDTPSDNDSG ICMSPESYLG SPQHSPSTRG
SPNRSLPSPG VLCGSARPKP YDPPGEKMVA AKVKGEKLDK KLKKMEQNKT AATRYRQKKR
AEQEALTGEC KELEKKNEAL KERADSLAKE IQYLKDLIEE VRKARGKKRV P*
speed 0.12 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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