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 8 transcript(s)...
Querying Taster for transcript #1: ENST00000356151
Querying Taster for transcript #2: ENST00000463280
Querying Taster for transcript #3: ENST00000383715
Querying Taster for transcript #4: ENST00000484288
Querying Taster for transcript #5: ENST00000479241
Querying Taster for transcript #6: ENST00000302779
Querying Taster for transcript #7: ENST00000383716
Querying Taster for transcript #8: ENST00000536660
MT speed 0 s - this script 5.278108 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK481Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK448Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK464Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK481Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK464Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK448Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.992700603156198simple_aaeaffectedK344Rsingle base exchangers56384862show file
PXKpolymorphism_automatic0.995916027074113simple_aaeaffectedK464Rsingle base exchangers56384862show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000356151
Genbank transcript ID NM_017771
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1442A>G
cDNA.1551A>G
g.77257A>G
AA changes K481R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 481
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      481SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    481RYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1737 / 1737
position (AA) of stopcodon in wt / mu AA sequence 579 / 579
position of stopcodon in wt / mu cDNA 1846 / 1846
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 110 / 110
chromosome 3
strand 1
last intron/exon boundary 1638
theoretical NMD boundary in CDS 1478
length of CDS 1737
coding sequence (CDS) position 1442
cDNA position
(for ins/del: last normal base / first normal base)		 1551
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTEYIIRV QRGISVENSW QIVRRYSDFD
LLNNSLQIAG LSLPLPPKKL IGNMDREFIA ERQKGLQNYL NVITTNHILS NCELVKKFLD
PNNYSANYTE IALQQVSMFF RSEPKWEVVE PLKDIGWRIR KKYFLMKIKN QPKERLVLSW
ADLGPDKYLS DKDFQCLIKL LPSCLHPYIY RVTFATANES SALLIRMFNE KGTLKDLIYK
AKPKDPFLKK YCNPKKIQGL ELQQIKTYGR QILEVLKFLH DKGFPYGHLH ASNVMLDGDT
CRLLDLENSL LGLPSFYRSY FSQFRKINTL ESVDVHCFGH LLYEMTYGRP PDSVPVDSFP
PAPSMAVVAV LESTLSCEAC KNGMPTISRL LQMPLFSDVL LTTSEKPQFK IPTKLKEALR
IAKECIEKRL IEEQKQIHQH RRLTRAQSHH GSEEERKKRK ILARKKSKRS ALENSEEHSA
KYSNSNNSAG SGASSPLTSP SSPTPPSTSG ISALPPPPPP PPPPAAPLPP ASTEAPAQLS
SQAVNGMSRG ALLSSIQNFQ KGTLRKAKTC DHSAPKIG*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTEYIIRV QRGISVENSW QIVRRYSDFD
LLNNSLQIAG LSLPLPPKKL IGNMDREFIA ERQKGLQNYL NVITTNHILS NCELVKKFLD
PNNYSANYTE IALQQVSMFF RSEPKWEVVE PLKDIGWRIR KKYFLMKIKN QPKERLVLSW
ADLGPDKYLS DKDFQCLIKL LPSCLHPYIY RVTFATANES SALLIRMFNE KGTLKDLIYK
AKPKDPFLKK YCNPKKIQGL ELQQIKTYGR QILEVLKFLH DKGFPYGHLH ASNVMLDGDT
CRLLDLENSL LGLPSFYRSY FSQFRKINTL ESVDVHCFGH LLYEMTYGRP PDSVPVDSFP
PAPSMAVVAV LESTLSCEAC KNGMPTISRL LQMPLFSDVL LTTSEKPQFK IPTKLKEALR
IAKECIEKRL IEEQKQIHQH RRLTRAQSHH GSEEERKKRK ILARKKSKRS ALENSEEHSA
RYSNSNNSAG SGASSPLTSP SSPTPPSTSG ISALPPPPPP PPPPAAPLPP ASTEAPAQLS
SQAVNGMSRG ALLSSIQNFQ KGTLRKAKTC DHSAPKIG*
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: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000463280
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1343A>G
cDNA.1434A>G
g.77257A>G
AA changes K448R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 448
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      448SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    448SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
459459CONFLICTR -> K (in Ref. 2; AAR98521).might get lost (downstream of altered splice site)
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1449 / 1449
position (AA) of stopcodon in wt / mu AA sequence 483 / 483
position of stopcodon in wt / mu cDNA 1540 / 1540
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 92 / 92
chromosome 3
strand 1
last intron/exon boundary 1554
theoretical NMD boundary in CDS 1412
length of CDS 1449
coding sequence (CDS) position 1343
cDNA position
(for ins/del: last normal base / first normal base)		 1434
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIAGLSL PLPPKKLIGN MDREFIAERQ
KGLQNYLNVI TTNHILSNCE LVKKFLDPNN YSANYTEIAL QQVSMFFRSE PKWEVVEPLK
DIGWRIRKKY FLMKIKNQPK ERLVLSWADL GPDKYLSDKD FQCLIKLLPS CLHPYIYRVT
FATANESSAL LIRMFNEKGT LKDLIYKAKP KDPFLKKYCN PKKIQGLELQ QIKTYGRQIL
EVLKFLHDKG FPYGHLHASN VMLDGDTCRL LDLENSLLGL PSFYRSYFSQ FRKINTLESV
DVHCFGHLLY EMTYGRPPDS VPVDSFPPAP SMAVVAVLES TLSCEACKNG MPTISRLLQM
PLFSDVLLTT SEKPQFKIPT KLKEALRIAK ECIEKRLIEE QKQIHQHRRL TRAQSHHGSE
EERKKRKILA RKKSKRSALE NSEEHSAKYS NSNNSAGSGA SSPLTSPSSP TPPSTSVEHA
PF*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIAGLSL PLPPKKLIGN MDREFIAERQ
KGLQNYLNVI TTNHILSNCE LVKKFLDPNN YSANYTEIAL QQVSMFFRSE PKWEVVEPLK
DIGWRIRKKY FLMKIKNQPK ERLVLSWADL GPDKYLSDKD FQCLIKLLPS CLHPYIYRVT
FATANESSAL LIRMFNEKGT LKDLIYKAKP KDPFLKKYCN PKKIQGLELQ QIKTYGRQIL
EVLKFLHDKG FPYGHLHASN VMLDGDTCRL LDLENSLLGL PSFYRSYFSQ FRKINTLESV
DVHCFGHLLY EMTYGRPPDS VPVDSFPPAP SMAVVAVLES TLSCEACKNG MPTISRLLQM
PLFSDVLLTT SEKPQFKIPT KLKEALRIAK ECIEKRLIEE QKQIHQHRRL TRAQSHHGSE
EERKKRKILA RKKSKRSALE NSEEHSARYS NSNNSAGSGA SSPLTSPSSP TPPSTSVEHA
PF*
speed 0.50 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: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000383715
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1391A>G
cDNA.1477A>G
g.77257A>G
AA changes K464R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 464
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      464SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    464SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1583 / 1583
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 87 / 87
chromosome 3
strand 1
last intron/exon boundary 1564
theoretical NMD boundary in CDS 1427
length of CDS 1497
coding sequence (CDS) position 1391
cDNA position
(for ins/del: last normal base / first normal base)		 1477
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIVRRYS DFDLLNNSLQ IAGLSLPLPP
KKLIGNMDRE FIAERQKGLQ NYLNVITTNH ILSNCELVKK FLDPNNYSAN YTEIALQQVS
MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSAKYSNSNN SAGSGASSPL
TSPSSPTPPS TSVEHAPF*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIVRRYS DFDLLNNSLQ IAGLSLPLPP
KKLIGNMDRE FIAERQKGLQ NYLNVITTNH ILSNCELVKK FLDPNNYSAN YTEIALQQVS
MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSARYSNSNN SAGSGASSPL
TSPSSPTPPS TSVEHAPF*
speed 0.46 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: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000484288
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1442A>G
cDNA.1520A>G
g.77257A>G
AA changes K481R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 481
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      481SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    481RYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1548 / 1548
position (AA) of stopcodon in wt / mu AA sequence 516 / 516
position of stopcodon in wt / mu cDNA 1626 / 1626
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 79 / 79
chromosome 3
strand 1
last intron/exon boundary 1607
theoretical NMD boundary in CDS 1478
length of CDS 1548
coding sequence (CDS) position 1442
cDNA position
(for ins/del: last normal base / first normal base)		 1520
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTEYIIRV QRGISVENSW QIVRRYSDFD
LLNNSLQIAG LSLPLPPKKL IGNMDREFIA ERQKGLQNYL NVITTNHILS NCELVKKFLD
PNNYSANYTE IALQQVSMFF RSEPKWEVVE PLKDIGWRIR KKYFLMKIKN QPKERLVLSW
ADLGPDKYLS DKDFQCLIKL LPSCLHPYIY RVTFATANES SALLIRMFNE KGTLKDLIYK
AKPKDPFLKK YCNPKKIQGL ELQQIKTYGR QILEVLKFLH DKGFPYGHLH ASNVMLDGDT
CRLLDLENSL LGLPSFYRSY FSQFRKINTL ESVDVHCFGH LLYEMTYGRP PDSVPVDSFP
PAPSMAVVAV LESTLSCEAC KNGMPTISRL LQMPLFSDVL LTTSEKPQFK IPTKLKEALR
IAKECIEKRL IEEQKQIHQH RRLTRAQSHH GSEEERKKRK ILARKKSKRS ALENSEEHSA
KYSNSNNSAG SGASSPLTSP SSPTPPSTSV EHAPF*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTEYIIRV QRGISVENSW QIVRRYSDFD
LLNNSLQIAG LSLPLPPKKL IGNMDREFIA ERQKGLQNYL NVITTNHILS NCELVKKFLD
PNNYSANYTE IALQQVSMFF RSEPKWEVVE PLKDIGWRIR KKYFLMKIKN QPKERLVLSW
ADLGPDKYLS DKDFQCLIKL LPSCLHPYIY RVTFATANES SALLIRMFNE KGTLKDLIYK
AKPKDPFLKK YCNPKKIQGL ELQQIKTYGR QILEVLKFLH DKGFPYGHLH ASNVMLDGDT
CRLLDLENSL LGLPSFYRSY FSQFRKINTL ESVDVHCFGH LLYEMTYGRP PDSVPVDSFP
PAPSMAVVAV LESTLSCEAC KNGMPTISRL LQMPLFSDVL LTTSEKPQFK IPTKLKEALR
IAKECIEKRL IEEQKQIHQH RRLTRAQSHH GSEEERKKRK ILARKKSKRS ALENSEEHSA
RYSNSNNSAG SGASSPLTSP SSPTPPSTSV EHAPF*
speed 1.32 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: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000302779
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1391A>G
cDNA.1490A>G
g.77257A>G
AA changes K464R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 464
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      464SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    464SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1686 / 1686
position (AA) of stopcodon in wt / mu AA sequence 562 / 562
position of stopcodon in wt / mu cDNA 1785 / 1785
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 100 / 100
chromosome 3
strand 1
last intron/exon boundary 1577
theoretical NMD boundary in CDS 1427
length of CDS 1686
coding sequence (CDS) position 1391
cDNA position
(for ins/del: last normal base / first normal base)		 1490
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIVRRYS DFDLLNNSLQ IAGLSLPLPP
KKLIGNMDRE FIAERQKGLQ NYLNVITTNH ILSNCELVKK FLDPNNYSAN YTEIALQQVS
MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSAKYSNSNN SAGSGASSPL
TSPSSPTPPS TSGISALPPP PPPPPPPAAP LPPASTEAPA QLSSQAVNGM SRGALLSSIQ
NFQKGTLRKA KTCDHSAPKI G*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIVRRYS DFDLLNNSLQ IAGLSLPLPP
KKLIGNMDRE FIAERQKGLQ NYLNVITTNH ILSNCELVKK FLDPNNYSAN YTEIALQQVS
MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSARYSNSNN SAGSGASSPL
TSPSSPTPPS TSGISALPPP PPPPPPPAAP LPPASTEAPA QLSSQAVNGM SRGALLSSIQ
NFQKGTLRKA KTCDHSAPKI G*
speed 0.50 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: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000383716
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1343A>G
cDNA.1442A>G
g.77257A>G
AA changes K448R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 448
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      448SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    448SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485DLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTV
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
459459CONFLICTR -> K (in Ref. 2; AAR98521).might get lost (downstream of altered splice site)
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1638 / 1638
position (AA) of stopcodon in wt / mu AA sequence 546 / 546
position of stopcodon in wt / mu cDNA 1737 / 1737
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 100 / 100
chromosome 3
strand 1
last intron/exon boundary 1529
theoretical NMD boundary in CDS 1379
length of CDS 1638
coding sequence (CDS) position 1343
cDNA position
(for ins/del: last normal base / first normal base)		 1442
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIAGLSL PLPPKKLIGN MDREFIAERQ
KGLQNYLNVI TTNHILSNCE LVKKFLDPNN YSANYTEIAL QQVSMFFRSE PKWEVVEPLK
DIGWRIRKKY FLMKIKNQPK ERLVLSWADL GPDKYLSDKD FQCLIKLLPS CLHPYIYRVT
FATANESSAL LIRMFNEKGT LKDLIYKAKP KDPFLKKYCN PKKIQGLELQ QIKTYGRQIL
EVLKFLHDKG FPYGHLHASN VMLDGDTCRL LDLENSLLGL PSFYRSYFSQ FRKINTLESV
DVHCFGHLLY EMTYGRPPDS VPVDSFPPAP SMAVVAVLES TLSCEACKNG MPTISRLLQM
PLFSDVLLTT SEKPQFKIPT KLKEALRIAK ECIEKRLIEE QKQIHQHRRL TRAQSHHGSE
EERKKRKILA RKKSKRSALE NSEEHSAKYS NSNNSAGSGA SSPLTSPSSP TPPSTSGISA
LPPPPPPPPP PAAPLPPAST EAPAQLSSQA VNGMSRGALL SSIQNFQKGT LRKAKTCDHS
APKIG*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIAGLSL PLPPKKLIGN MDREFIAERQ
KGLQNYLNVI TTNHILSNCE LVKKFLDPNN YSANYTEIAL QQVSMFFRSE PKWEVVEPLK
DIGWRIRKKY FLMKIKNQPK ERLVLSWADL GPDKYLSDKD FQCLIKLLPS CLHPYIYRVT
FATANESSAL LIRMFNEKGT LKDLIYKAKP KDPFLKKYCN PKKIQGLELQ QIKTYGRQIL
EVLKFLHDKG FPYGHLHASN VMLDGDTCRL LDLENSLLGL PSFYRSYFSQ FRKINTLESV
DVHCFGHLLY EMTYGRPPDS VPVDSFPPAP SMAVVAVLES TLSCEACKNG MPTISRLLQM
PLFSDVLLTT SEKPQFKIPT KLKEALRIAK ECIEKRLIEE QKQIHQHRRL TRAQSHHGSE
EERKKRKILA RKKSKRSALE NSEEHSARYS NSNNSAGSGA SSPLTSPSSP TPPSTSGISA
LPPPPPPPPP PAAPLPPAST EAPAQLSSQA VNGMSRGALL SSIQNFQKGT LRKAKTCDHS
APKIG*
speed 0.44 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: 0.00729939684380206 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000536660
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1031A>G
cDNA.1190A>G
g.77257A>G
AA changes K344R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 344
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      344SALENSEEHSAKYSNSNNSAGSGA
mutated  all conserved    344SALENSEEHSARYSNSNNSAGSG
Ptroglodytes  all identical  ENSPTRG00000015058  481SALENSEEHSAKYSNSNNSAGSG
Mmulatta  not conserved  ENSMMUG00000006432  479WTLHQSKSLSGSQPGPNSKSGSG
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481SAVENSEEQPVKHSNSNNSAGSG
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSAGSG
Trubripes  all conserved  ENSTRUG00000002410  480TACETEEDVSAR----NNNSGSG
Drerio  all identical  ENSDARG00000063195  485STYEIEEDLSVKY--NNNSAGSG
Dmelanogaster  not conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAASSSTTVVGEL
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482TSCDTGEEQAMKSNNSNNSGSTGSG
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
459459CONFLICTR -> K (in Ref. 2; AAR98521).might get lost (downstream of altered splice site)
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1326 / 1326
position (AA) of stopcodon in wt / mu AA sequence 442 / 442
position of stopcodon in wt / mu cDNA 1485 / 1485
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 160 / 160
chromosome 3
strand 1
last intron/exon boundary 1277
theoretical NMD boundary in CDS 1067
length of CDS 1326
coding sequence (CDS) position 1031
cDNA position
(for ins/del: last normal base / first normal base)		 1190
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSAKYSNSNN SAGSGASSPL
TSPSSPTPPS TSGISALPPP PPPPPPPAAP LPPASTEAPA QLSSQAVNGM SRGALLSSIQ
NFQKGTLRKA KTCDHSAPKI G*
mutated AA sequence MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSARYSNSNN SAGSGASSPL
TSPSSPTPPS TSGISALPPP PPPPPPPAAP LPPASTEAPA QLSSQAVNGM SRGALLSSIQ
NFQKGTLRKA KTCDHSAPKI G*
speed 0.45 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: 0.00408397292588663 (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) chr3:58395863A>GN/A show variant in all transcripts   IGV
HGNC symbol PXK
Ensembl transcript ID ENST00000479241
Genbank transcript ID N/A
UniProt peptide Q7Z7A4
alteration type single base exchange
alteration region CDS
DNA changes c.1391A>G
cDNA.1432A>G
g.77257A>G
AA changes K464R Score: 26 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 464
frameshift no
known variant Reference ID: rs56384862
databasehomozygous (G/G)heterozygousallele carriers
1000G131626757
ExAC55102174727257
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)3.7890.992
2.4581
(flanking)0.6191
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained772560.69mu: CAGCGAGGTACAGCA GCGA|ggta
distance from splice site 24
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      464SALENSEEHSAKYSNSNNSGSGAS
mutated  all conserved    464SALENSEEHSARYSNSNNSGSGA
Ptroglodytes  all identical  ENSPTRG00000015058  481KYSNSNNSAGSGA
Mmulatta  not conserved  ENSMMUG00000006432  479SQPGPNSKSGSGA
Fcatus  no homologue    
Mmusculus  all identical  ENSMUSG00000033885  481KHSNSNNSAGSGA
Ggallus  all identical  ENSGALG00000007052  477SAYESAEEHSAKYSNSNNSA
Trubripes  all conserved  ENSTRUG00000002410  480R---NNNSGSGA
Drerio  all identical  ENSDARG00000063195  485DLSVKY-NNNSAGSGA
Dmelanogaster  all conserved  FBgn0033244  527SKLKQQSSIQTNNGRLSLVAATAAAA
Celegans  no homologue    
Xtropicalis  all identical  ENSXETG00000008675  482MKSNNSNNSGSTGSGA
protein features
start (aa)end (aa)featuredetails 
88481DOMAINProtein kinase.lost
489489CONFLICTMissing (in Ref. 6; BAD18536).might get lost (downstream of altered splice site)
548567DOMAINWH2.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1692 / 1692
position (AA) of stopcodon in wt / mu AA sequence 564 / 564
position of stopcodon in wt / mu cDNA 1733 / 1733
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 42 / 42
chromosome 3
strand 1
last intron/exon boundary 1550
theoretical NMD boundary in CDS 1458
length of CDS 1692
coding sequence (CDS) position 1391
cDNA position
(for ins/del: last normal base / first normal base)		 1432
gDNA position
(for ins/del: last normal base / first normal base)		 77257
chromosomal position
(for ins/del: last normal base / first normal base)		 58395863
original gDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered gDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
original cDNA sequence snippet TAGTGAAGAGCATTCAGCGAAGTACAGCAACTCCAATAATT
altered cDNA sequence snippet TAGTGAAGAGCATTCAGCGAGGTACAGCAACTCCAATAATT
wildtype AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIVRRYS DFDLLNNSLQ IAGLSLPLPP
KKLIGNMDRE FIAERQKGLQ NYLNVITTNH ILSNCELVKK FLDPNNYSAN YTEIALQQVS
MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSAKYSNSNN SGSGASSPLT
SPSSPTPPST SAALGLSKRC KERDICITST SSTSTTTSSS LASCEHRGTC PALVSGCEWH
EPRGLAQLHP EFPKRNFEES QNL*
mutated AA sequence MAFMEKPPAG KVLLDDTVPL TAAIEASQSL QSHTIVRRYS DFDLLNNSLQ IAGLSLPLPP
KKLIGNMDRE FIAERQKGLQ NYLNVITTNH ILSNCELVKK FLDPNNYSAN YTEIALQQVS
MFFRSEPKWE VVEPLKDIGW RIRKKYFLMK IKNQPKERLV LSWADLGPDK YLSDKDFQCL
IKLLPSCLHP YIYRVTFATA NESSALLIRM FNEKGTLKDL IYKAKPKDPF LKKYCNPKKI
QGLELQQIKT YGRQILEVLK FLHDKGFPYG HLHASNVMLD GDTCRLLDLE NSLLGLPSFY
RSYFSQFRKI NTLESVDVHC FGHLLYEMTY GRPPDSVPVD SFPPAPSMAV VAVLESTLSC
EACKNGMPTI SRLLQMPLFS DVLLTTSEKP QFKIPTKLKE ALRIAKECIE KRLIEEQKQI
HQHRRLTRAQ SHHGSEEERK KRKILARKKS KRSALENSEE HSARYSNSNN SGSGASSPLT
SPSSPTPPST SAALGLSKRC KERDICITST SSTSTTTSSS LASCEHRGTC PALVSGCEWH
EPRGLAQLHP EFPKRNFEES QNL*
speed 0.45 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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