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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000392474
Querying Taster for transcript #2: ENST00000347034
Querying Taster for transcript #3: ENST00000538733
Querying Taster for transcript #4: ENST00000337174
Querying Taster for transcript #5: ENST00000324774
Querying Taster for transcript #6: ENST00000412367
Querying Taster for transcript #7: ENST00000404169
Querying Taster for transcript #8: ENST00000446440
Querying Taster for transcript #9: ENST00000392473
MT speed 0 s - this script 7.289786 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file
CAMKK2polymorphism_automatic4.15001366604884e-13simple_aaeaffectedT85Ssingle base exchangers3817190show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000392474
Genbank transcript ID NM_001270486
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.258A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1671 / 1671
position (AA) of stopcodon in wt / mu AA sequence 557 / 557
position of stopcodon in wt / mu cDNA 1676 / 1676
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 6 / 6
chromosome 12
strand -1
last intron/exon boundary 1602
theoretical NMD boundary in CDS 1546
length of CDS 1671
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 258
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKGTKKKKGL
DSMTSTVAAG WLDRRV*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKGTKKKKGL
DSMTSTVAAG WLDRRV*
speed 1.05 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000347034
Genbank transcript ID NM_172216
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.831A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).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 2216 / 2216
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 579 / 579
chromosome 12
strand -1
last intron/exon boundary 2046
theoretical NMD boundary in CDS 1417
length of CDS 1638
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 831
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKKPTR
ECESLSELKE ARQRRQPPGH RPAPRGGGGS ALVRGSPCVE SCWAPAPGSP ARMHPLRPEE
AMEPE*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKKPTR
ECESLSELKE ARQRRQPPGH RPAPRGGGGS ALVRGSPCVE SCWAPAPGSP ARMHPLRPEE
AMEPE*
speed 1.13 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000538733
Genbank transcript ID NM_153500
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.831A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).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 2075 / 2075
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 579 / 579
chromosome 12
strand -1
last intron/exon boundary 2003
theoretical NMD boundary in CDS 1374
length of CDS 1497
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 831
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKQGSE
DNLQGTDPPP VGEEEVLL*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKQGSE
DNLQGTDPPP VGEEEVLL*
speed 0.83 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000337174
Genbank transcript ID NM_153499
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.831A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1626 / 1626
position (AA) of stopcodon in wt / mu AA sequence 542 / 542
position of stopcodon in wt / mu cDNA 2204 / 2204
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 579 / 579
chromosome 12
strand -1
last intron/exon boundary 2132
theoretical NMD boundary in CDS 1503
length of CDS 1626
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 831
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKQ GSEDNLQGTD PPPVGEEEVL
L*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKQ GSEDNLQGTD PPPVGEEEVL
L*
speed 1.13 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000324774
Genbank transcript ID NM_001270485
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.1082A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1767 / 1767
position (AA) of stopcodon in wt / mu AA sequence 589 / 589
position of stopcodon in wt / mu cDNA 2596 / 2596
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 830 / 830
chromosome 12
strand -1
last intron/exon boundary 2426
theoretical NMD boundary in CDS 1546
length of CDS 1767
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 1082
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKEARQRRQP
PGHRPAPRGG GGSALVRGSP CVESCWAPAP GSPARMHPLR PEEAMEPE*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKEARQRRQP
PGHRPAPRGG GGSALVRGSP CVESCWAPAP GSPARMHPLR PEEAMEPE*
speed 1.18 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000412367
Genbank transcript ID N/A
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.361A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1626 / 1626
position (AA) of stopcodon in wt / mu AA sequence 542 / 542
position of stopcodon in wt / mu cDNA 1734 / 1734
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 109 / 109
chromosome 12
strand -1
last intron/exon boundary 1662
theoretical NMD boundary in CDS 1503
length of CDS 1626
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 361
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKQ GSEDNLQGTD PPPVGEEEVL
L*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKQ GSEDNLQGTD PPPVGEEEVL
L*
speed 1.14 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000404169
Genbank transcript ID N/A
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.428A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1767 / 1767
position (AA) of stopcodon in wt / mu AA sequence 589 / 589
position of stopcodon in wt / mu cDNA 1942 / 1942
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 176 / 176
chromosome 12
strand -1
last intron/exon boundary 1772
theoretical NMD boundary in CDS 1546
length of CDS 1767
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 428
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKEARQRRQP
PGHRPAPRGG GGSALVRGSP CVESCWAPAP GSPARMHPLR PEEAMEPE*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKEARQRRQP
PGHRPAPRGG GGSALVRGSP CVESCWAPAP GSPARMHPLR PEEAMEPE*
speed 1.02 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: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000446440
Genbank transcript ID NM_172215
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.831A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1473 / 1473
position (AA) of stopcodon in wt / mu AA sequence 491 / 491
position of stopcodon in wt / mu cDNA 2051 / 2051
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 579 / 579
chromosome 12
strand -1
last intron/exon boundary 2046
theoretical NMD boundary in CDS 1417
length of CDS 1473
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 831
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKKPTR
ECESLSELKT *
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KILVKTMIRK RSFGNPFEGS RREERSLSAP GNLLTKKPTR
ECESLSELKT *
speed 1.06 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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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999585 (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 CM078461)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr12:121712077T>AN/A show variant in all transcripts   IGV
HGNC symbol CAMKK2
Ensembl transcript ID ENST00000392473
Genbank transcript ID NM_172214
UniProt peptide Q96RR4
alteration type single base exchange
alteration region CDS
DNA changes c.253A>T
cDNA.1082A>T
g.24035A>T
AA changes T85S Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 85
frameshift no
known variant Reference ID: rs3817190
databasehomozygous (A/A)heterozygousallele carriers
1000G48210981580
ExAC90781461123689

known disease mutation at this position, please check HGMD for details (HGMD ID CM078461)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.0460.007
-0.1640
(flanking)-2.6690
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 increased24042wt: 0.8977 / mu: 0.9722 (marginal change - not scored)wt: GGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCACC
mu: GGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCACC		 ccgg|GTCC
Acc increased24041wt: 0.53 / mu: 0.90wt: AGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCAC
mu: AGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCAC		 tccg|GGTC
Acc increased24040wt: 0.30 / mu: 0.88wt: GAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGCCCCA
mu: GAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGCCCCA		 ctcc|GGGT
Acc marginally increased24036wt: 0.4705 / mu: 0.4810 (marginal change - not scored)wt: CCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGGC
mu: CCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGGC		 acac|CTCC
distance from splice site 219
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      85LEADGQEVPLDTSGSQARPHLSGR
mutated  all conserved    85LEADGQEVPLDSSGSQARPHLSG
Ptroglodytes  all identical  ENSPTRG00000005556  85LEADGQEVPLDTSGSQARPHLSG
Mmulatta  all identical  ENSMMUG00000016969  85LEADGQEVPLDTSGSQARPHLSG
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000029471  84PEADGQELPLEASDPESRSPLSG
Ggallus  all conserved  ENSGALG00000004011  69MSVAAVE---ESREPRAKLNLSG
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000078645  n/a
Dmelanogaster  no alignment  FBgn0040056  n/a
Celegans  no alignment  C05H8.1  n/a
Xtropicalis  not conserved  ENSXETG00000020962  77KLDDRKVLPVGRKDCKGKLNMTN
protein features
start (aa)end (aa)featuredetails 
100100MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
129129MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
133133MOD_RESPhosphoserine (By similarity).might get lost (downstream of altered splice site)
165172STRANDmight get lost (downstream of altered splice site)
165446DOMAINProtein kinase.might get lost (downstream of altered splice site)
171179NP_BINDATP (By similarity).might get lost (downstream of altered splice site)
178184STRANDmight get lost (downstream of altered splice site)
185188TURNmight get lost (downstream of altered splice site)
189197STRANDmight get lost (downstream of altered splice site)
194194BINDINGATP (By similarity).might get lost (downstream of altered splice site)
204226REGIONRP domain.might get lost (downstream of altered splice site)
206206CONFLICTG -> A (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
232241HELIXmight get lost (downstream of altered splice site)
251256STRANDmight get lost (downstream of altered splice site)
258268STRANDmight get lost (downstream of altered splice site)
286305HELIXmight get lost (downstream of altered splice site)
312312ACT_SITEProton acceptor (By similarity).might get lost (downstream of altered splice site)
315317HELIXmight get lost (downstream of altered splice site)
318320STRANDmight get lost (downstream of altered splice site)
326328STRANDmight get lost (downstream of altered splice site)
331331CONFLICTF -> I (in Ref. 6; BAF84761).might get lost (downstream of altered splice site)
338341STRANDmight get lost (downstream of altered splice site)
347347CONFLICTT -> Y (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
351353HELIXmight get lost (downstream of altered splice site)
356358HELIXmight get lost (downstream of altered splice site)
366368STRANDmight get lost (downstream of altered splice site)
369385HELIXmight get lost (downstream of altered splice site)
371371CONFLICTL -> K (in Ref. 2; AAD31507).might get lost (downstream of altered splice site)
395404HELIXmight get lost (downstream of altered splice site)
411413STRANDmight get lost (downstream of altered splice site)
417426HELIXmight get lost (downstream of altered splice site)
431433TURNmight get lost (downstream of altered splice site)
437440HELIXmight get lost (downstream of altered splice site)
444447HELIXmight get lost (downstream of altered splice site)
472477REGIONAutoinhibitory domain (By similarity).might get lost (downstream of altered splice site)
475500REGIONCalmodulin-binding (By similarity).might get lost (downstream of altered splice site)
495495MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
511511MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
554554CONFLICTA -> H (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
557557CONFLICTR -> N (in Ref. 1; AAK91829).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1602 / 1602
position (AA) of stopcodon in wt / mu AA sequence 534 / 534
position of stopcodon in wt / mu cDNA 2431 / 2431
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 830 / 830
chromosome 12
strand -1
last intron/exon boundary 2426
theoretical NMD boundary in CDS 1546
length of CDS 1602
coding sequence (CDS) position 253
cDNA position
(for ins/del: last normal base / first normal base)		 1082
gDNA position
(for ins/del: last normal base / first normal base)		 24035
chromosomal position
(for ins/del: last normal base / first normal base)		 121712077
original gDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered gDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
original cDNA sequence snippet GCCAAGAGGTCCCCCTTGACACCTCCGGGTCCCAGGCCCGG
altered cDNA sequence snippet GCCAAGAGGTCCCCCTTGACTCCTCCGGGTCCCAGGCCCGG
wildtype AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDTSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKT*
mutated AA sequence MSSCVSSQPS SNRAAPQDEL GGRGSSSSES QKPCEALRGL SSLSIHLGME SFIVVTECEP
GCAVDLGLAR DRPLEADGQE VPLDSSGSQA RPHLSGRKLS LQERSQGGLA AGGSLDMNGR
CICPSLPYSP VSSPQSSPRL PRRPTVESHH VSITGMQDCV QLNQYTLKDE IGKGSYGVVK
LAYNENDNTY YAMKVLSKKK LIRQAGFPRR PPPRGTRPAP GGCIQPRGPI EQVYQEIAIL
KKLDHPNVVK LVEVLDDPNE DHLYMVFELV NQGPVMEVPT LKPLSEDQAR FYFQDLIKGI
EYLHYQKIIH RDIKPSNLLV GEDGHIKIAD FGVSNEFKGS DALLSNTVGT PAFMAPESLS
ETRKIFSGKA LDVWAMGVTL YCFVFGQCPF MDERIMCLHS KIKSQALEFP DQPDIAEDLK
DLITRMLDKN PESRIVVPEI KLHPWVTRHG AEPLPSEDEN CTLVEVTEEE VENSVKHIPS
LATVILVKTM IRKRSFGNPF EGSRREERSL SAPGNLLTKK PTRECESLSE LKT*
speed 0.65 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