Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 3 transcript(s)...
Querying Taster for transcript #1: ENST00000392038
Querying Taster for transcript #2: ENST00000311278
Querying Taster for transcript #3: ENST00000424901
MT speed 0 s - this script 6.083756 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AKT2disease_causing_automatic0.999999989344967simple_aaeaffected0R274Hsingle base exchangers121434593show file
AKT2disease_causing_automatic0.999999989344967simple_aaeaffected0R274Hsingle base exchangers121434593show file
AKT2disease_causing_automatic0.999999989344967simple_aaeaffected0R274Hsingle base exchangers121434593show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999989344967 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM041234)
  • known disease mutation: rs13982 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:40743886C>TN/A show variant in all transcripts   IGV
HGNC symbol AKT2
Ensembl transcript ID ENST00000311278
Genbank transcript ID N/A
UniProt peptide P31751
alteration type single base exchange
alteration region CDS
DNA changes c.821G>A
cDNA.866G>A
g.47558G>A
AA changes R274H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
274
frameshift no
known variant Reference ID: rs121434593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13982 (pathogenic for Type 2 diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.7170.003
4.1020.998
(flanking)2.231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased47563wt: 0.8252 / mu: 0.8531 (marginal change - not scored)wt: GCGACATCAAGGTTA
mu: ACGACATCAAGGTTA
 GACA|tcaa
Donor increased47562wt: 0.85 / mu: 0.94wt: CGCGACATCAAGGTT
mu: CACGACATCAAGGTT
 CGAC|atca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      274LEYLHSRDVVYRDIKVLEDNDYGR
mutated  not conserved    274LEYLHSRDVVYHDIKVLEDNDYG
Ptroglodytes  all identical  ENSPTRG00000010992  177LEYLHSRDVVYRDI
Mmulatta  all identical  ENSMMUG00000003621  274LEYLHSRDVVYRDIKLENLMLDKDGHIKITDFGLCKEG
Fcatus  all identical  ENSFCAG00000012180  274LEYLHSRDVVYRDIKLENLMLDKDGHIKITDFGLCKEG
Mmusculus  all identical  ENSMUSG00000004056  274LEYLHSRDVVYRDIKLENLMLDKDGHIKITDFGLCKEG
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008633  273LEYLHSRDVVYRDLKLENLMLDKDGHIKITDFGLCKE
Drerio  all identical  ENSDARG00000011219  272LEYLHSKDVVYRDLKLENLMLDKDGHIKITDFGLCKEG
Dmelanogaster  all identical  FBgn0010379  388LGYLHSQGIIYRDLKLENLLLDKDGH
Celegans  all identical  C12D8.10  320SIVYRDLKLENLLLDKDGHIKIADFGLCKEEISFGDKTSTFCGTPEYLAPEVLDDHDYG
Xtropicalis  all identical  ENSXETG00000016986  278LEYLHSRNVVYRDIKLENLMLDKDGHVKITDFGL
protein features
start (aa)end (aa)featuredetails 
152409DOMAINProtein kinase.lost
277279REGIONInhibitor binding.might get lost (downstream of altered splice site)
279279BINDINGInhibitor; via carbonyl oxygen.might get lost (downstream of altered splice site)
280280BINDINGManganese.might get lost (downstream of altered splice site)
280283STRANDmight get lost (downstream of altered splice site)
289291STRANDmight get lost (downstream of altered splice site)
292293REGIONInhibitor binding.might get lost (downstream of altered splice site)
293293BINDINGInhibitor.might get lost (downstream of altered splice site)
293293BINDINGManganese.might get lost (downstream of altered splice site)
294294BINDINGInhibitor; via amide nitrogen.might get lost (downstream of altered splice site)
297297DISULFIDmight get lost (downstream of altered splice site)
298300STRANDmight get lost (downstream of altered splice site)
306306CARBOHYDO-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
309309MUTAGENT->A: Impairs interaction with TTC3; when associated with A-474.might get lost (downstream of altered splice site)
309309MOD_RESPhosphothreonine; by PDPK1.might get lost (downstream of altered splice site)
309309MUTAGENT->E: Constitutively active; when associated with D-474.might get lost (downstream of altered splice site)
310312STRANDmight get lost (downstream of altered splice site)
311311DISULFIDmight get lost (downstream of altered splice site)
313313CARBOHYDO-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
319322HELIXmight get lost (downstream of altered splice site)
323325STRANDmight get lost (downstream of altered splice site)
331345HELIXmight get lost (downstream of altered splice site)
351353STRANDmight get lost (downstream of altered splice site)
355364HELIXmight get lost (downstream of altered splice site)
371373STRANDmight get lost (downstream of altered splice site)
375384HELIXmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
393395TURNmight get lost (downstream of altered splice site)
397399TURNmight get lost (downstream of altered splice site)
400404HELIXmight get lost (downstream of altered splice site)
407409HELIXmight get lost (downstream of altered splice site)
410481DOMAINAGC-kinase C-terminal.might get lost (downstream of altered splice site)
414418HELIXmight get lost (downstream of altered splice site)
431434STRANDmight get lost (downstream of altered splice site)
437439STRANDmight get lost (downstream of altered splice site)
441444HELIXmight get lost (downstream of altered splice site)
447447MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
451451MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
474474MUTAGENS->A: Impairs interaction with TTC3; when associated with A-309.might get lost (downstream of altered splice site)
474474MUTAGENS->D: Constitutively active; when associated with E-309.might get lost (downstream of altered splice site)
474474MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474476STRANDmight get lost (downstream of altered splice site)
477479TURNmight get lost (downstream of altered splice site)
478478MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
478481CONFLICTSIRE -> FREEKDLLMSLFVSLILFSDFSSLKSHSFSSNF ILLSFSSLKK (in Ref. 1; AAA36585).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1317 / 1317
position (AA) of stopcodon in wt / mu AA sequence 439 / 439
position of stopcodon in wt / mu cDNA 1362 / 1362
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 46 / 46
chromosome 19
strand -1
last intron/exon boundary 1283
theoretical NMD boundary in CDS 1187
length of CDS 1317
coding sequence (CDS) position 821
cDNA position
(for ins/del: last normal base / first normal base)
866
gDNA position
(for ins/del: last normal base / first normal base)
47558
chromosomal position
(for ins/del: last normal base / first normal base)
40743886
original gDNA sequence snippet CTCGCGGGACGTGGTATACCGCGACATCAAGGTTAGTGGCA
altered gDNA sequence snippet CTCGCGGGACGTGGTATACCACGACATCAAGGTTAGTGGCA
original cDNA sequence snippet CTCGCGGGACGTGGTATACCGCGACATCAAGGTGCTGGAGG
altered cDNA sequence snippet CTCGCGGGACGTGGTATACCACGACATCAAGGTGCTGGAGG
wildtype AA sequence MNEVSVIKEG WLHKRGEYIK TWRPRYFLLK SDGSFIGYKE RPEAPDQTLP PLNNFSVAEC
QLMKTERPRP NTFVIRCLQW TTVIERTFHV DSPDEREEWM RAIQMVANSL KQRAPGEDPM
DYKCGSPSDS STTEEMEVAV SKARAKVTMN DFDYLKLLGK GTFGKVILVR EKATGRYYAM
KILRKEVIIA KDEVAHTVTE SRVLQNTRHP FLTALKYAFQ THDRLCFVME YANGGELFFH
LSRERVFTEE RARFYGAEIV SALEYLHSRD VVYRDIKVLE DNDYGRAVDW WGLGVVMYEM
MCGRLPFYNQ DHERLFELIL MEEIRFPRTL SPEAKSLLAG LLKKDPKQRL GGGPSDAKEV
MEHRFFLSIN WQDVVQKKLL PPFKPQVTSE VDTRYFDDEF TAQSITITPP DRYDSLGLLE
LDQRTHFPQF SYSASIRE*
mutated AA sequence MNEVSVIKEG WLHKRGEYIK TWRPRYFLLK SDGSFIGYKE RPEAPDQTLP PLNNFSVAEC
QLMKTERPRP NTFVIRCLQW TTVIERTFHV DSPDEREEWM RAIQMVANSL KQRAPGEDPM
DYKCGSPSDS STTEEMEVAV SKARAKVTMN DFDYLKLLGK GTFGKVILVR EKATGRYYAM
KILRKEVIIA KDEVAHTVTE SRVLQNTRHP FLTALKYAFQ THDRLCFVME YANGGELFFH
LSRERVFTEE RARFYGAEIV SALEYLHSRD VVYHDIKVLE DNDYGRAVDW WGLGVVMYEM
MCGRLPFYNQ DHERLFELIL MEEIRFPRTL SPEAKSLLAG LLKKDPKQRL GGGPSDAKEV
MEHRFFLSIN WQDVVQKKLL PPFKPQVTSE VDTRYFDDEF TAQSITITPP DRYDSLGLLE
LDQRTHFPQF SYSASIRE*
speed 1.64 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999989344967 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM041234)
  • known disease mutation: rs13982 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:40743886C>TN/A show variant in all transcripts   IGV
HGNC symbol AKT2
Ensembl transcript ID ENST00000392038
Genbank transcript ID NM_001243027
UniProt peptide P31751
alteration type single base exchange
alteration region CDS
DNA changes c.821G>A
cDNA.1120G>A
g.47558G>A
AA changes R274H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
274
frameshift no
known variant Reference ID: rs121434593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13982 (pathogenic for Type 2 diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.7170.003
4.1020.998
(flanking)2.231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased47563wt: 0.8252 / mu: 0.8531 (marginal change - not scored)wt: GCGACATCAAGGTTA
mu: ACGACATCAAGGTTA
 GACA|tcaa
Donor increased47562wt: 0.85 / mu: 0.94wt: CGCGACATCAAGGTT
mu: CACGACATCAAGGTT
 CGAC|atca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      274LEYLHSRDVVYRDIKLENLMLDKD
mutated  not conserved    274LEYLHSRDVVYHDIKLENLMLDK
Ptroglodytes  all identical  ENSPTRG00000010992  177LEYLHSRDVVYRDI
Mmulatta  all identical  ENSMMUG00000003621  274LEYLHSRDVVYRDIKLENLMLDK
Fcatus  all identical  ENSFCAG00000012180  274LEYLHSRDVVYRDIKLENLMLDK
Mmusculus  all identical  ENSMUSG00000004056  274LEYLHSRDVVYRDIKLENLMLDK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008633  273LEYLHSRDVVYRDLKLENLMLDK
Drerio  all identical  ENSDARG00000011219  272LEYLHSKDVVYRDLKLENLMLDK
Dmelanogaster  all identical  FBgn0010379  388LGYLHSQGIIYRDLKLENLLLDK
Celegans  all identical  C12D8.10  320SIVYRDLKLENLLLDK
Xtropicalis  all identical  ENSXETG00000016986  278LEYLHSRNVVYRDIKLENLMLDK
protein features
start (aa)end (aa)featuredetails 
152409DOMAINProtein kinase.lost
277279REGIONInhibitor binding.might get lost (downstream of altered splice site)
279279BINDINGInhibitor; via carbonyl oxygen.might get lost (downstream of altered splice site)
280280BINDINGManganese.might get lost (downstream of altered splice site)
280283STRANDmight get lost (downstream of altered splice site)
289291STRANDmight get lost (downstream of altered splice site)
292293REGIONInhibitor binding.might get lost (downstream of altered splice site)
293293BINDINGInhibitor.might get lost (downstream of altered splice site)
293293BINDINGManganese.might get lost (downstream of altered splice site)
294294BINDINGInhibitor; via amide nitrogen.might get lost (downstream of altered splice site)
297297DISULFIDmight get lost (downstream of altered splice site)
298300STRANDmight get lost (downstream of altered splice site)
306306CARBOHYDO-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
309309MUTAGENT->A: Impairs interaction with TTC3; when associated with A-474.might get lost (downstream of altered splice site)
309309MOD_RESPhosphothreonine; by PDPK1.might get lost (downstream of altered splice site)
309309MUTAGENT->E: Constitutively active; when associated with D-474.might get lost (downstream of altered splice site)
310312STRANDmight get lost (downstream of altered splice site)
311311DISULFIDmight get lost (downstream of altered splice site)
313313CARBOHYDO-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
319322HELIXmight get lost (downstream of altered splice site)
323325STRANDmight get lost (downstream of altered splice site)
331345HELIXmight get lost (downstream of altered splice site)
351353STRANDmight get lost (downstream of altered splice site)
355364HELIXmight get lost (downstream of altered splice site)
371373STRANDmight get lost (downstream of altered splice site)
375384HELIXmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
393395TURNmight get lost (downstream of altered splice site)
397399TURNmight get lost (downstream of altered splice site)
400404HELIXmight get lost (downstream of altered splice site)
407409HELIXmight get lost (downstream of altered splice site)
410481DOMAINAGC-kinase C-terminal.might get lost (downstream of altered splice site)
414418HELIXmight get lost (downstream of altered splice site)
431434STRANDmight get lost (downstream of altered splice site)
437439STRANDmight get lost (downstream of altered splice site)
441444HELIXmight get lost (downstream of altered splice site)
447447MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
451451MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
474474MUTAGENS->A: Impairs interaction with TTC3; when associated with A-309.might get lost (downstream of altered splice site)
474474MUTAGENS->D: Constitutively active; when associated with E-309.might get lost (downstream of altered splice site)
474474MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474476STRANDmight get lost (downstream of altered splice site)
477479TURNmight get lost (downstream of altered splice site)
478478MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
478481CONFLICTSIRE -> FREEKDLLMSLFVSLILFSDFSSLKSHSFSSNF ILLSFSSLKK (in Ref. 1; AAA36585).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1446 / 1446
position (AA) of stopcodon in wt / mu AA sequence 482 / 482
position of stopcodon in wt / mu cDNA 1745 / 1745
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 300 / 300
chromosome 19
strand -1
last intron/exon boundary 1666
theoretical NMD boundary in CDS 1316
length of CDS 1446
coding sequence (CDS) position 821
cDNA position
(for ins/del: last normal base / first normal base)
1120
gDNA position
(for ins/del: last normal base / first normal base)
47558
chromosomal position
(for ins/del: last normal base / first normal base)
40743886
original gDNA sequence snippet CTCGCGGGACGTGGTATACCGCGACATCAAGGTTAGTGGCA
altered gDNA sequence snippet CTCGCGGGACGTGGTATACCACGACATCAAGGTTAGTGGCA
original cDNA sequence snippet CTCGCGGGACGTGGTATACCGCGACATCAAGCTGGAAAACC
altered cDNA sequence snippet CTCGCGGGACGTGGTATACCACGACATCAAGCTGGAAAACC
wildtype AA sequence MNEVSVIKEG WLHKRGEYIK TWRPRYFLLK SDGSFIGYKE RPEAPDQTLP PLNNFSVAEC
QLMKTERPRP NTFVIRCLQW TTVIERTFHV DSPDEREEWM RAIQMVANSL KQRAPGEDPM
DYKCGSPSDS STTEEMEVAV SKARAKVTMN DFDYLKLLGK GTFGKVILVR EKATGRYYAM
KILRKEVIIA KDEVAHTVTE SRVLQNTRHP FLTALKYAFQ THDRLCFVME YANGGELFFH
LSRERVFTEE RARFYGAEIV SALEYLHSRD VVYRDIKLEN LMLDKDGHIK ITDFGLCKEG
ISDGATMKTF CGTPEYLAPE VLEDNDYGRA VDWWGLGVVM YEMMCGRLPF YNQDHERLFE
LILMEEIRFP RTLSPEAKSL LAGLLKKDPK QRLGGGPSDA KEVMEHRFFL SINWQDVVQK
KLLPPFKPQV TSEVDTRYFD DEFTAQSITI TPPDRYDSLG LLELDQRTHF PQFSYSASIR
E*
mutated AA sequence MNEVSVIKEG WLHKRGEYIK TWRPRYFLLK SDGSFIGYKE RPEAPDQTLP PLNNFSVAEC
QLMKTERPRP NTFVIRCLQW TTVIERTFHV DSPDEREEWM RAIQMVANSL KQRAPGEDPM
DYKCGSPSDS STTEEMEVAV SKARAKVTMN DFDYLKLLGK GTFGKVILVR EKATGRYYAM
KILRKEVIIA KDEVAHTVTE SRVLQNTRHP FLTALKYAFQ THDRLCFVME YANGGELFFH
LSRERVFTEE RARFYGAEIV SALEYLHSRD VVYHDIKLEN LMLDKDGHIK ITDFGLCKEG
ISDGATMKTF CGTPEYLAPE VLEDNDYGRA VDWWGLGVVM YEMMCGRLPF YNQDHERLFE
LILMEEIRFP RTLSPEAKSL LAGLLKKDPK QRLGGGPSDA KEVMEHRFFL SINWQDVVQK
KLLPPFKPQV TSEVDTRYFD DEFTAQSITI TPPDRYDSLG LLELDQRTHF PQFSYSASIR
E*
speed 1.48 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

documentation

Prediction

disease causing

Model: simple_aae, prob: 0.999999989344967 (classification due to ClinVar, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • known disease mutation at this position (HGMD CM041234)
  • known disease mutation: rs13982 (pathogenic)
  • protein features (might be) affected
  • splice site changes
hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:40743886C>TN/A show variant in all transcripts   IGV
HGNC symbol AKT2
Ensembl transcript ID ENST00000424901
Genbank transcript ID N/A
UniProt peptide P31751
alteration type single base exchange
alteration region CDS
DNA changes c.821G>A
cDNA.821G>A
g.47558G>A
AA changes R274H Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS
274
frameshift no
known variant Reference ID: rs121434593
Allele 'T' was neither found in ExAC nor 1000G.
known disease mutation: rs13982 (pathogenic for Type 2 diabetes mellitus) dbSNP  NCBI variation viewer
known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)

known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)
known disease mutation at this position, please check HGMD for details (HGMD ID CM041234)
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-3.7170.003
4.1020.998
(flanking)2.231
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased47563wt: 0.8252 / mu: 0.8531 (marginal change - not scored)wt: GCGACATCAAGGTTA
mu: ACGACATCAAGGTTA
 GACA|tcaa
Donor increased47562wt: 0.85 / mu: 0.94wt: CGCGACATCAAGGTT
mu: CACGACATCAAGGTT
 CGAC|atca
distance from splice site 11
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      274LEYLHSRDVVYRDIKLENLMLDKD
mutated  not conserved    274LEYLHSRDVVYHDIKLENLMLDK
Ptroglodytes  all identical  ENSPTRG00000010992  177LEYLHSRDVVYRDI
Mmulatta  all identical  ENSMMUG00000003621  274LEYLHSRDVVYRDIKLENLMLDK
Fcatus  all identical  ENSFCAG00000012180  274LEYLHSRDVVYRDIKLENLMLDK
Mmusculus  all identical  ENSMUSG00000004056  274LEYLHSRDVVYRDIKLENLMLDK
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000008633  273LEYLHSRDVVYRDLKLENLMLDK
Drerio  all identical  ENSDARG00000011219  272LEYLHSKDVVYRDLKLENLMLDK
Dmelanogaster  all identical  FBgn0010379  388LGYLHSQGIIYRDLKLENLLLDK
Celegans  all identical  C12D8.10  320SIVYRDLKLENLLLDK
Xtropicalis  all identical  ENSXETG00000016986  278LEYLHSRNVVYRDIKLENLMLDK
protein features
start (aa)end (aa)featuredetails 
152409DOMAINProtein kinase.lost
277279REGIONInhibitor binding.might get lost (downstream of altered splice site)
279279BINDINGInhibitor; via carbonyl oxygen.might get lost (downstream of altered splice site)
280280BINDINGManganese.might get lost (downstream of altered splice site)
280283STRANDmight get lost (downstream of altered splice site)
289291STRANDmight get lost (downstream of altered splice site)
292293REGIONInhibitor binding.might get lost (downstream of altered splice site)
293293BINDINGInhibitor.might get lost (downstream of altered splice site)
293293BINDINGManganese.might get lost (downstream of altered splice site)
294294BINDINGInhibitor; via amide nitrogen.might get lost (downstream of altered splice site)
297297DISULFIDmight get lost (downstream of altered splice site)
298300STRANDmight get lost (downstream of altered splice site)
306306CARBOHYDO-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
309309MUTAGENT->A: Impairs interaction with TTC3; when associated with A-474.might get lost (downstream of altered splice site)
309309MOD_RESPhosphothreonine; by PDPK1.might get lost (downstream of altered splice site)
309309MUTAGENT->E: Constitutively active; when associated with D-474.might get lost (downstream of altered splice site)
310312STRANDmight get lost (downstream of altered splice site)
311311DISULFIDmight get lost (downstream of altered splice site)
313313CARBOHYDO-linked (GlcNAc...) (By similarity).might get lost (downstream of altered splice site)
314316HELIXmight get lost (downstream of altered splice site)
319322HELIXmight get lost (downstream of altered splice site)
323325STRANDmight get lost (downstream of altered splice site)
331345HELIXmight get lost (downstream of altered splice site)
351353STRANDmight get lost (downstream of altered splice site)
355364HELIXmight get lost (downstream of altered splice site)
371373STRANDmight get lost (downstream of altered splice site)
375384HELIXmight get lost (downstream of altered splice site)
389391TURNmight get lost (downstream of altered splice site)
393395TURNmight get lost (downstream of altered splice site)
397399TURNmight get lost (downstream of altered splice site)
400404HELIXmight get lost (downstream of altered splice site)
407409HELIXmight get lost (downstream of altered splice site)
410481DOMAINAGC-kinase C-terminal.might get lost (downstream of altered splice site)
414418HELIXmight get lost (downstream of altered splice site)
431434STRANDmight get lost (downstream of altered splice site)
437439STRANDmight get lost (downstream of altered splice site)
441444HELIXmight get lost (downstream of altered splice site)
447447MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
451451MOD_RESPhosphothreonine.might get lost (downstream of altered splice site)
474474MUTAGENS->A: Impairs interaction with TTC3; when associated with A-309.might get lost (downstream of altered splice site)
474474MUTAGENS->D: Constitutively active; when associated with E-309.might get lost (downstream of altered splice site)
474474MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
474476STRANDmight get lost (downstream of altered splice site)
477479TURNmight get lost (downstream of altered splice site)
478478MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
478481CONFLICTSIRE -> FREEKDLLMSLFVSLILFSDFSSLKSHSFSSNF ILLSFSSLKK (in Ref. 1; AAA36585).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1446 / 1446
position (AA) of stopcodon in wt / mu AA sequence 482 / 482
position of stopcodon in wt / mu cDNA 1446 / 1446
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 1 / 1
chromosome 19
strand -1
last intron/exon boundary 1367
theoretical NMD boundary in CDS 1316
length of CDS 1446
coding sequence (CDS) position 821
cDNA position
(for ins/del: last normal base / first normal base)
821
gDNA position
(for ins/del: last normal base / first normal base)
47558
chromosomal position
(for ins/del: last normal base / first normal base)
40743886
original gDNA sequence snippet CTCGCGGGACGTGGTATACCGCGACATCAAGGTTAGTGGCA
altered gDNA sequence snippet CTCGCGGGACGTGGTATACCACGACATCAAGGTTAGTGGCA
original cDNA sequence snippet CTCGCGGGACGTGGTATACCGCGACATCAAGCTGGAAAACC
altered cDNA sequence snippet CTCGCGGGACGTGGTATACCACGACATCAAGCTGGAAAACC
wildtype AA sequence MNEVSVIKEG WLHKRGEYIK TWRPRYFLLK SDGSFIGYKE RPEAPDQTLP PLNNFSVAEC
QLMKTERPRP NTFVIRCLQW TTVIERTFHV DSPDEREEWM RAIQMVANSL KQRAPGEDPM
DYKCGSPSDS STTEEMEVAV SKARAKVTMN DFDYLKLLGK GTFGKVILVR EKATGRYYAM
KILRKEVIIA KDEVAHTVTE SRVLQNTRHP FLTALKYAFQ THDRLCFVME YANGGELFFH
LSRERVFTEE RARFYGAEIV SALEYLHSRD VVYRDIKLEN LMLDKDGHIK ITDFGLCKEG
ISDGATMKTF CGTPEYLAPE VLEDNDYGRA VDWWGLGVVM YEMMCGRLPF YNQDHERLFE
LILMEEIRFP RTLSPEAKSL LAGLLKKDPK QRLGGGPSDA KEVMEHRFFL SINWQDVVQK
KLLPPFKPQV TSEVDTRYFD DEFTAQSITI TPPDRYDSLG LLELDQRTHF PQFSYSASIR
E*
mutated AA sequence MNEVSVIKEG WLHKRGEYIK TWRPRYFLLK SDGSFIGYKE RPEAPDQTLP PLNNFSVAEC
QLMKTERPRP NTFVIRCLQW TTVIERTFHV DSPDEREEWM RAIQMVANSL KQRAPGEDPM
DYKCGSPSDS STTEEMEVAV SKARAKVTMN DFDYLKLLGK GTFGKVILVR EKATGRYYAM
KILRKEVIIA KDEVAHTVTE SRVLQNTRHP FLTALKYAFQ THDRLCFVME YANGGELFFH
LSRERVFTEE RARFYGAEIV SALEYLHSRD VVYHDIKLEN LMLDKDGHIK ITDFGLCKEG
ISDGATMKTF CGTPEYLAPE VLEDNDYGRA VDWWGLGVVM YEMMCGRLPF YNQDHERLFE
LILMEEIRFP RTLSPEAKSL LAGLLKKDPK QRLGGGPSDA KEVMEHRFFL SINWQDVVQK
KLLPPFKPQV TSEVDTRYFD DEFTAQSITI TPPDRYDSLG LLELDQRTHF PQFSYSASIR
E*
speed 1.44 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
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Problems