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: ENST00000485033
Querying Taster for transcript #2: ENST00000255992
Querying Taster for transcript #3: ENST00000319551
MT speed 0 s - this script 3.073038 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
KRBA1polymorphism_automatic3.25195426142955e-12simple_aaeaffectedH320Rsingle base exchangers7791608show file
KRBA1polymorphism_automatic3.25195426142955e-12simple_aaeaffectedH320Rsingle base exchangers7791608show file
KRBA1polymorphism_automatic3.25195426142955e-12simple_aaeaffectedH320Rsingle base exchangers7791608show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999996748 (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) chr7:149421773A>GN/A show variant in all transcripts   IGV
HGNC symbol KRBA1
Ensembl transcript ID ENST00000485033
Genbank transcript ID N/A
UniProt peptide A5PL33
alteration type single base exchange
alteration region CDS
DNA changes c.959A>G
cDNA.959A>G
g.9902A>G
AA changes H320R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 320
frameshift no
known variant Reference ID: rs7791608
databasehomozygous (G/G)heterozygousallele carriers
1000G2807501030
ExAC55229013453
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3160
-1.2550
(flanking)0.1450
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 increased9906wt: 0.9799 / mu: 0.9806 (marginal change - not scored)wt: CTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCT
mu: CTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCT		 tcct|GATC
Acc increased9911wt: 0.67 / mu: 0.82wt: CCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCT
mu: CCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTCT		 atct|TGGA
Acc marginally increased9897wt: 0.3788 / mu: 0.4256 (marginal change - not scored)wt: GGATACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGC
mu: GGATACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGC		 tcct|CCCC
Acc marginally increased9903wt: 0.5619 / mu: 0.5842 (marginal change - not scored)wt: CTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGG
mu: CTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGG		 ccat|CCTG
Acc marginally increased9912wt: 0.8139 / mu: 0.8466 (marginal change - not scored)wt: CCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCTC
mu: CCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTCTC		 tctt|GGAG
Acc increased9898wt: 0.25 / mu: 0.40wt: GATACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCT
mu: GATACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCT		 cctc|CCCA
Acc increased9907wt: 0.50 / mu: 0.63wt: TGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTG
mu: TGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTG		 cctg|ATCT
Acc marginally increased9900wt: 0.6729 / mu: 0.7142 (marginal change - not scored)wt: TACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGG
mu: TACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGG		 tccc|CATC
Acc increased9910wt: 0.24 / mu: 0.30wt: CCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTC
mu: CCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTC		 gatc|TTGG
Acc marginally increased9901wt: 0.9003 / mu: 0.9568 (marginal change - not scored)wt: ACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGC
mu: ACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGC		 cccc|ATCC
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      320GGPGYLLTPPPHPDLGAGGLLSVK
mutated  not conserved    320GGPGYLLTPPPRPDLGAGGLLSV
Ptroglodytes  not conserved  ENSPTRG00000019846  320GGPGCLLTPPPCPGLGAGSLLSV
Mmulatta  all identical  ENSMMUG00000017159  323GGPGHLLTPPPHPGLGAGSLLSV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042810  319GGMRHLQT-PPHPSHEAGSMLATV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
465471COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
602792COMPBIASPro-rich.might get lost (downstream of altered splice site)
799832COILEDPotential.might get lost (downstream of altered splice site)
9131002COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2910 / 2910
position (AA) of stopcodon in wt / mu AA sequence 970 / 970
position of stopcodon in wt / mu cDNA 2910 / 2910
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 7
strand 1
last intron/exon boundary 2069
theoretical NMD boundary in CDS 2018
length of CDS 2910
coding sequence (CDS) position 959
cDNA position
(for ins/del: last normal base / first normal base)		 959
gDNA position
(for ins/del: last normal base / first normal base)		 9902
chromosomal position
(for ins/del: last normal base / first normal base)		 149421773
original gDNA sequence snippet CCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCG
altered gDNA sequence snippet CCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCG
original cDNA sequence snippet CCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCG
altered cDNA sequence snippet CCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCG
wildtype AA sequence MRENYETLVS VGTAELLPLS AFLSPSEPGR AVGGGSHADE GQEPAGCGDP QGGQPRHSLH
LTALVQLVKE IPEFLFGEVK GAMDSPESES RGASLDGERA SPEAAAAREP CPLRGLLSCL
PDGPTSQPHL ATTPTDSSCS SGPTGDGVQG SPLPIKTADK PWPTRKEGPG ALGGEPSPPT
HSPSRRKSHR GQERGTSEAG ISPGNSPLQG LINCLKEILV PGPRHPETSP SFLPPLPSLG
TSRLTRADLG PGSPPWAVKT EAVSGDCPLQ GLLHCLKELP EAQDRHPSPS GVGNRRLQEN
PGAWKRGSGG PGYLLTPPPH PDLGAGGLLS VKMENSWVQS PPGPASCQPG RQPLSPSATG
DTRGVPQPSW GPEAQAASAS SSPLEALEAC LKGIPPNGSS PSQLPPTSCS QNPQPGDSRS
QKPELQPHRS HSEEATREPV LPLGLQSCVR DGPSRPLAPR GTPTSFSSSS STDWDLDFGS
PVGNQGQHPG KGSPPGSSPL QGLENCLKEI PVPVLRPAWP CSSAADRGPR RAEPRNWTAD
KEGSAPKPSP LHCLESALRG ILPVRPLRFA CVGGPSPSPS PGSSSSFSGS EGEDPRPEPD
LWKPLPQERD RLPSCKPPVP LSPCPGGTPA GSSGGSPGED PRRTEPRYCS GLGAGTAQDP
CPVSQLEKRP RVSEASRGLE LGHGRPRVAA KTHERLLPQG PPELPSESPP PELPPPEAAP
PVLPASSLQP PCHCGKPLQQ ELHSLGAALA EKLDRLATAL AGLAQEVATM RTQVNRLGRR
PQGPGPMGQA SWMWTLPRGP RWAHGPGHRH LPYWRQKGPT RPKPKILRGQ GESCRAGDLQ
GLSRGTARRA RPLPPDAPPA EPPGLHCSSS QQLLSSTPSC HAAPPAHPLL AHTGGHQSPL
PPLVPAALPL QGASPPAASA DADVPTSGVA PDGIPERPKE PSSLLGGVQR ALQEELWGGE
HRDPRWGAH*
mutated AA sequence MRENYETLVS VGTAELLPLS AFLSPSEPGR AVGGGSHADE GQEPAGCGDP QGGQPRHSLH
LTALVQLVKE IPEFLFGEVK GAMDSPESES RGASLDGERA SPEAAAAREP CPLRGLLSCL
PDGPTSQPHL ATTPTDSSCS SGPTGDGVQG SPLPIKTADK PWPTRKEGPG ALGGEPSPPT
HSPSRRKSHR GQERGTSEAG ISPGNSPLQG LINCLKEILV PGPRHPETSP SFLPPLPSLG
TSRLTRADLG PGSPPWAVKT EAVSGDCPLQ GLLHCLKELP EAQDRHPSPS GVGNRRLQEN
PGAWKRGSGG PGYLLTPPPR PDLGAGGLLS VKMENSWVQS PPGPASCQPG RQPLSPSATG
DTRGVPQPSW GPEAQAASAS SSPLEALEAC LKGIPPNGSS PSQLPPTSCS QNPQPGDSRS
QKPELQPHRS HSEEATREPV LPLGLQSCVR DGPSRPLAPR GTPTSFSSSS STDWDLDFGS
PVGNQGQHPG KGSPPGSSPL QGLENCLKEI PVPVLRPAWP CSSAADRGPR RAEPRNWTAD
KEGSAPKPSP LHCLESALRG ILPVRPLRFA CVGGPSPSPS PGSSSSFSGS EGEDPRPEPD
LWKPLPQERD RLPSCKPPVP LSPCPGGTPA GSSGGSPGED PRRTEPRYCS GLGAGTAQDP
CPVSQLEKRP RVSEASRGLE LGHGRPRVAA KTHERLLPQG PPELPSESPP PELPPPEAAP
PVLPASSLQP PCHCGKPLQQ ELHSLGAALA EKLDRLATAL AGLAQEVATM RTQVNRLGRR
PQGPGPMGQA SWMWTLPRGP RWAHGPGHRH LPYWRQKGPT RPKPKILRGQ GESCRAGDLQ
GLSRGTARRA RPLPPDAPPA EPPGLHCSSS QQLLSSTPSC HAAPPAHPLL AHTGGHQSPL
PPLVPAALPL QGASPPAASA DADVPTSGVA PDGIPERPKE PSSLLGGVQR ALQEELWGGE
HRDPRWGAH*
speed 0.49 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: 0.999999999996748 (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) chr7:149421773A>GN/A show variant in all transcripts   IGV
HGNC symbol KRBA1
Ensembl transcript ID ENST00000255992
Genbank transcript ID NM_032534
UniProt peptide A5PL33
alteration type single base exchange
alteration region CDS
DNA changes c.959A>G
cDNA.1358A>G
g.9902A>G
AA changes H320R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 320
frameshift no
known variant Reference ID: rs7791608
databasehomozygous (G/G)heterozygousallele carriers
1000G2807501030
ExAC55229013453
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3160
-1.2550
(flanking)0.1450
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 increased9906wt: 0.9799 / mu: 0.9806 (marginal change - not scored)wt: CTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCT
mu: CTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCT		 tcct|GATC
Acc increased9911wt: 0.67 / mu: 0.82wt: CCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCT
mu: CCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTCT		 atct|TGGA
Acc marginally increased9897wt: 0.3788 / mu: 0.4256 (marginal change - not scored)wt: GGATACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGC
mu: GGATACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGC		 tcct|CCCC
Acc marginally increased9903wt: 0.5619 / mu: 0.5842 (marginal change - not scored)wt: CTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGG
mu: CTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGG		 ccat|CCTG
Acc marginally increased9912wt: 0.8139 / mu: 0.8466 (marginal change - not scored)wt: CCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCTC
mu: CCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTCTC		 tctt|GGAG
Acc increased9898wt: 0.25 / mu: 0.40wt: GATACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCT
mu: GATACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCT		 cctc|CCCA
Acc increased9907wt: 0.50 / mu: 0.63wt: TGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTG
mu: TGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTG		 cctg|ATCT
Acc marginally increased9900wt: 0.6729 / mu: 0.7142 (marginal change - not scored)wt: TACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGG
mu: TACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGG		 tccc|CATC
Acc increased9910wt: 0.24 / mu: 0.30wt: CCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTC
mu: CCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTC		 gatc|TTGG
Acc marginally increased9901wt: 0.9003 / mu: 0.9568 (marginal change - not scored)wt: ACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGC
mu: ACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGC		 cccc|ATCC
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      320GGPGYLLTPPPHPDLGAGGLLSVK
mutated  not conserved    320GGPGYLLTPPPRPDLGAGGLLSV
Ptroglodytes  not conserved  ENSPTRG00000019846  320GGPGCLLTPPPCPGLGAGSLLSV
Mmulatta  all identical  ENSMMUG00000017159  323GGPGHLLTPPPHPGLGAGSLLSV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042810  319GGMRHLQTPP-HPSHEAGSMLATV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
465471COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
602792COMPBIASPro-rich.might get lost (downstream of altered splice site)
799832COILEDPotential.might get lost (downstream of altered splice site)
9131002COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3090 / 3090
position (AA) of stopcodon in wt / mu AA sequence 1030 / 1030
position of stopcodon in wt / mu cDNA 3489 / 3489
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 400 / 400
chromosome 7
strand 1
last intron/exon boundary 2648
theoretical NMD boundary in CDS 2198
length of CDS 3090
coding sequence (CDS) position 959
cDNA position
(for ins/del: last normal base / first normal base)		 1358
gDNA position
(for ins/del: last normal base / first normal base)		 9902
chromosomal position
(for ins/del: last normal base / first normal base)		 149421773
original gDNA sequence snippet CCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCG
altered gDNA sequence snippet CCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCG
original cDNA sequence snippet CCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCG
altered cDNA sequence snippet CCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCG
wildtype AA sequence MRENYETLVS VGTAELLPLS AFLSPSEPGR AVGGGSHADE GQEPAGCGDP QGGQPRHSLH
LTALVQLVKE IPEFLFGEVK GAMDSPESES RGASLDGERA SPEAAAAREP CPLRGLLSCL
PDGPTSQPHL ATTPTDSSCS SGPTGDGVQG SPLPIKTADK PWPTRKEGPG ALGGEPSPPT
HSPSRRKSHR GQERGTSEAG ISPGNSPLQG LINCLKEILV PGPRHPETSP SFLPPLPSLG
TSRLTRADLG PGSPPWAVKT EAVSGDCPLQ GLLHCLKELP EAQDRHPSPS GVGNRRLQEN
PGAWKRGSGG PGYLLTPPPH PDLGAGGLLS VKMENSWVQS PPGPASCQPG RQPLSPSATG
DTRGVPQPSW GPEAQAASAS SSPLEALEAC LKGIPPNGSS PSQLPPTSCS QNPQPGDSRS
QKPELQPHRS HSEEATREPV LPLGLQSCVR DGPSRPLAPR GTPTSFSSSS STDWDLDFGS
PVGNQGQHPG KGSPPGSSPL QGLENCLKEI PVPVLRPAWP CSSAADRGPR RAEPRNWTAD
KEGLRAEACE SRLGQGRGEA PTRSLHLVSP QVFTSSCVPA CHQRGFKDPG ATRPGVWRWL
PEGSAPKPSP LHCLESALRG ILPVRPLRFA CVGGPSPSPS PGSSSSFSGS EGEDPRPEPD
LWKPLPQERD RLPSCKPPVP LSPCPGGTPA GSSGGSPGED PRRTEPRYCS GLGAGTAQDP
CPVSQLEKRP RVSEASRGLE LGHGRPRVAA KTHERLLPQG PPELPSESPP PELPPPEAAP
PVLPASSLQP PCHCGKPLQQ ELHSLGAALA EKLDRLATAL AGLAQEVATM RTQVNRLGRR
PQGPGPMGQA SWMWTLPRGP RWAHGPGHRH LPYWRQKGPT RPKPKILRGQ GESCRAGDLQ
GLSRGTARRA RPLPPDAPPA EPPGLHCSSS QQLLSSTPSC HAAPPAHPLL AHTGGHQSPL
PPLVPAALPL QGASPPAASA DADVPTSGVA PDGIPERPKE PSSLLGGVQR ALQEELWGGE
HRDPRWGAH*
mutated AA sequence MRENYETLVS VGTAELLPLS AFLSPSEPGR AVGGGSHADE GQEPAGCGDP QGGQPRHSLH
LTALVQLVKE IPEFLFGEVK GAMDSPESES RGASLDGERA SPEAAAAREP CPLRGLLSCL
PDGPTSQPHL ATTPTDSSCS SGPTGDGVQG SPLPIKTADK PWPTRKEGPG ALGGEPSPPT
HSPSRRKSHR GQERGTSEAG ISPGNSPLQG LINCLKEILV PGPRHPETSP SFLPPLPSLG
TSRLTRADLG PGSPPWAVKT EAVSGDCPLQ GLLHCLKELP EAQDRHPSPS GVGNRRLQEN
PGAWKRGSGG PGYLLTPPPR PDLGAGGLLS VKMENSWVQS PPGPASCQPG RQPLSPSATG
DTRGVPQPSW GPEAQAASAS SSPLEALEAC LKGIPPNGSS PSQLPPTSCS QNPQPGDSRS
QKPELQPHRS HSEEATREPV LPLGLQSCVR DGPSRPLAPR GTPTSFSSSS STDWDLDFGS
PVGNQGQHPG KGSPPGSSPL QGLENCLKEI PVPVLRPAWP CSSAADRGPR RAEPRNWTAD
KEGLRAEACE SRLGQGRGEA PTRSLHLVSP QVFTSSCVPA CHQRGFKDPG ATRPGVWRWL
PEGSAPKPSP LHCLESALRG ILPVRPLRFA CVGGPSPSPS PGSSSSFSGS EGEDPRPEPD
LWKPLPQERD RLPSCKPPVP LSPCPGGTPA GSSGGSPGED PRRTEPRYCS GLGAGTAQDP
CPVSQLEKRP RVSEASRGLE LGHGRPRVAA KTHERLLPQG PPELPSESPP PELPPPEAAP
PVLPASSLQP PCHCGKPLQQ ELHSLGAALA EKLDRLATAL AGLAQEVATM RTQVNRLGRR
PQGPGPMGQA SWMWTLPRGP RWAHGPGHRH LPYWRQKGPT RPKPKILRGQ GESCRAGDLQ
GLSRGTARRA RPLPPDAPPA EPPGLHCSSS QQLLSSTPSC HAAPPAHPLL AHTGGHQSPL
PPLVPAALPL QGASPPAASA DADVPTSGVA PDGIPERPKE PSSLLGGVQR ALQEELWGGE
HRDPRWGAH*
speed 0.51 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: 0.999999999996748 (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) chr7:149421773A>GN/A show variant in all transcripts   IGV
HGNC symbol KRBA1
Ensembl transcript ID ENST00000319551
Genbank transcript ID N/A
UniProt peptide A5PL33
alteration type single base exchange
alteration region CDS
DNA changes c.959A>G
cDNA.1358A>G
g.9902A>G
AA changes H320R Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 320
frameshift no
known variant Reference ID: rs7791608
databasehomozygous (G/G)heterozygousallele carriers
1000G2807501030
ExAC55229013453
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.3160
-1.2550
(flanking)0.1450
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 increased9906wt: 0.9799 / mu: 0.9806 (marginal change - not scored)wt: CTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCT
mu: CTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCT		 tcct|GATC
Acc increased9911wt: 0.67 / mu: 0.82wt: CCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCT
mu: CCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTCT		 atct|TGGA
Acc marginally increased9897wt: 0.3788 / mu: 0.4256 (marginal change - not scored)wt: GGATACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGC
mu: GGATACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGC		 tcct|CCCC
Acc marginally increased9903wt: 0.5619 / mu: 0.5842 (marginal change - not scored)wt: CTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGG
mu: CTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGG		 ccat|CCTG
Acc marginally increased9912wt: 0.8139 / mu: 0.8466 (marginal change - not scored)wt: CCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTCTC
mu: CCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTCTC		 tctt|GGAG
Acc increased9898wt: 0.25 / mu: 0.40wt: GATACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCT
mu: GATACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCT		 cctc|CCCA
Acc increased9907wt: 0.50 / mu: 0.63wt: TGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTG
mu: TGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTG		 cctg|ATCT
Acc marginally increased9900wt: 0.6729 / mu: 0.7142 (marginal change - not scored)wt: TACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGG
mu: TACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGG		 tccc|CATC
Acc increased9910wt: 0.24 / mu: 0.30wt: CCCCTCCTCCCCATCCTGATCTTGGAGCTGGCGGTCTGCTC
mu: CCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCGGTCTGCTC		 gatc|TTGG
Acc marginally increased9901wt: 0.9003 / mu: 0.9568 (marginal change - not scored)wt: ACCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGC
mu: ACCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGC		 cccc|ATCC
distance from splice site 31
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      320GGPGYLLTPPPHPDLGAGGLLSVK
mutated  not conserved    320GGPGYLLTPPPRPDLGAGGLLSV
Ptroglodytes  not conserved  ENSPTRG00000019846  320GGPGCLLTPPPCPGLGAGSLLSV
Mmulatta  all identical  ENSMMUG00000017159  323GGPGHLLTPPPHPGLGAGSLLSV
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000042810  319GGMRHLQT-PPHPSHEAGSMLATV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
465471COMPBIASPoly-Ser.might get lost (downstream of altered splice site)
602792COMPBIASPro-rich.might get lost (downstream of altered splice site)
799832COILEDPotential.might get lost (downstream of altered splice site)
9131002COMPBIASPro-rich.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2910 / 2910
position (AA) of stopcodon in wt / mu AA sequence 970 / 970
position of stopcodon in wt / mu cDNA 3309 / 3309
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 400 / 400
chromosome 7
strand 1
last intron/exon boundary 2468
theoretical NMD boundary in CDS 2018
length of CDS 2910
coding sequence (CDS) position 959
cDNA position
(for ins/del: last normal base / first normal base)		 1358
gDNA position
(for ins/del: last normal base / first normal base)		 9902
chromosomal position
(for ins/del: last normal base / first normal base)		 149421773
original gDNA sequence snippet CCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCG
altered gDNA sequence snippet CCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCG
original cDNA sequence snippet CCTCCTGACCCCTCCTCCCCATCCTGATCTTGGAGCTGGCG
altered cDNA sequence snippet CCTCCTGACCCCTCCTCCCCGTCCTGATCTTGGAGCTGGCG
wildtype AA sequence MRENYETLVS VGTAELLPLS AFLSPSEPGR AVGGGSHADE GQEPAGCGDP QGGQPRHSLH
LTALVQLVKE IPEFLFGEVK GAMDSPESES RGASLDGERA SPEAAAAREP CPLRGLLSCL
PDGPTSQPHL ATTPTDSSCS SGPTGDGVQG SPLPIKTADK PWPTRKEGPG ALGGEPSPPT
HSPSRRKSHR GQERGTSEAG ISPGNSPLQG LINCLKEILV PGPRHPETSP SFLPPLPSLG
TSRLTRADLG PGSPPWAVKT EAVSGDCPLQ GLLHCLKELP EAQDRHPSPS GVGNRRLQEN
PGAWKRGSGG PGYLLTPPPH PDLGAGGLLS VKMENSWVQS PPGPASCQPG RQPLSPSATG
DTRGVPQPSW GPEAQAASAS SSPLEALEAC LKGIPPNGSS PSQLPPTSCS QNPQPGDSRS
QKPELQPHRS HSEEATREPV LPLGLQSCVR DGPSRPLAPR GTPTSFSSSS STDWDLDFGS
PVGNQGQHPG KGSPPGSSPL QGLENCLKEI PVPVLRPAWP CSSAADRGPR RAEPRNWTAD
KEGSAPKPSP LHCLESALRG ILPVRPLRFA CVGGPSPSPS PGSSSSFSGS EGEDPRPEPD
LWKPLPQERD RLPSCKPPVP LSPCPGGTPA GSSGGSPGED PRRTEPRYCS GLGAGTAQDP
CPVSQLEKRP RVSEASRGLE LGHGRPRVAA KTHERLLPQG PPELPSESPP PELPPPEAAP
PVLPASSLQP PCHCGKPLQQ ELHSLGAALA EKLDRLATAL AGLAQEVATM RTQVNRLGRR
PQGPGPMGQA SWMWTLPRGP RWAHGPGHRH LPYWRQKGPT RPKPKILRGQ GESCRAGDLQ
GLSRGTARRA RPLPPDAPPA EPPGLHCSSS QQLLSSTPSC HAAPPAHPLL AHTGGHQSPL
PPLVPAALPL QGASPPAASA DADVPTSGVA PDGIPERPKE PSSLLGGVQR ALQEELWGGE
HRDPRWGAH*
mutated AA sequence MRENYETLVS VGTAELLPLS AFLSPSEPGR AVGGGSHADE GQEPAGCGDP QGGQPRHSLH
LTALVQLVKE IPEFLFGEVK GAMDSPESES RGASLDGERA SPEAAAAREP CPLRGLLSCL
PDGPTSQPHL ATTPTDSSCS SGPTGDGVQG SPLPIKTADK PWPTRKEGPG ALGGEPSPPT
HSPSRRKSHR GQERGTSEAG ISPGNSPLQG LINCLKEILV PGPRHPETSP SFLPPLPSLG
TSRLTRADLG PGSPPWAVKT EAVSGDCPLQ GLLHCLKELP EAQDRHPSPS GVGNRRLQEN
PGAWKRGSGG PGYLLTPPPR PDLGAGGLLS VKMENSWVQS PPGPASCQPG RQPLSPSATG
DTRGVPQPSW GPEAQAASAS SSPLEALEAC LKGIPPNGSS PSQLPPTSCS QNPQPGDSRS
QKPELQPHRS HSEEATREPV LPLGLQSCVR DGPSRPLAPR GTPTSFSSSS STDWDLDFGS
PVGNQGQHPG KGSPPGSSPL QGLENCLKEI PVPVLRPAWP CSSAADRGPR RAEPRNWTAD
KEGSAPKPSP LHCLESALRG ILPVRPLRFA CVGGPSPSPS PGSSSSFSGS EGEDPRPEPD
LWKPLPQERD RLPSCKPPVP LSPCPGGTPA GSSGGSPGED PRRTEPRYCS GLGAGTAQDP
CPVSQLEKRP RVSEASRGLE LGHGRPRVAA KTHERLLPQG PPELPSESPP PELPPPEAAP
PVLPASSLQP PCHCGKPLQQ ELHSLGAALA EKLDRLATAL AGLAQEVATM RTQVNRLGRR
PQGPGPMGQA SWMWTLPRGP RWAHGPGHRH LPYWRQKGPT RPKPKILRGQ GESCRAGDLQ
GLSRGTARRA RPLPPDAPPA EPPGLHCSSS QQLLSSTPSC HAAPPAHPLL AHTGGHQSPL
PPLVPAALPL QGASPPAASA DADVPTSGVA PDGIPERPKE PSSLLGGVQR ALQEELWGGE
HRDPRWGAH*
speed 0.42 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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