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 7 transcript(s)...
Querying Taster for transcript #1: ENST00000286953
Querying Taster for transcript #2: ENST00000554880
Querying Taster for transcript #3: ENST00000555030
Querying Taster for transcript #4: ENST00000414262
Querying Taster for transcript #5: ENST00000553430
Querying Taster for transcript #6: ENST00000557040
Querying Taster for transcript #7: ENST00000554713
MT speed 0 s - this script 5.867787 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ATP5MPLpolymorphism_automatic6.59472476627343e-14simple_aaeaffectedI9Vsingle base exchangers1053419show file
ATP5MPLpolymorphism_automatic6.59472476627343e-14simple_aaeaffectedI9Vsingle base exchangers1053419show file
ATP5MPLpolymorphism_automatic6.59472476627343e-14simple_aaeaffectedI9Vsingle base exchangers1053419show file
ATP5MPLpolymorphism_automatic6.59472476627343e-14simple_aaeaffectedI9Vsingle base exchangers1053419show file
ATP5MPLpolymorphism_automatic6.59472476627343e-14simple_aaeaffectedI9Vsingle base exchangers1053419show file
ATP5MPLpolymorphism_automatic6.59472476627343e-14simple_aaeaffectedI9Vsingle base exchangers1053419show file
ATP5MPLpolymorphism_automatic1.47992729182533e-13simple_aaeaffectedI26Vsingle base exchangers1053419show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000286953
Genbank transcript ID NM_004894
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.113A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 177 / 177
position (AA) of stopcodon in wt / mu AA sequence 59 / 59
position of stopcodon in wt / mu cDNA 265 / 265
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 89 / 89
chromosome 14
strand -1
last intron/exon boundary 237
theoretical NMD boundary in CDS 98
length of CDS 177
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 113
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKA SAPAPGHH*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKA SAPAPGHH*
speed 1.23 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: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000554880
Genbank transcript ID N/A
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.179A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 177 / 177
position (AA) of stopcodon in wt / mu AA sequence 59 / 59
position of stopcodon in wt / mu cDNA 331 / 331
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 155 / 155
chromosome 14
strand -1
last intron/exon boundary 303
theoretical NMD boundary in CDS 98
length of CDS 177
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 179
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKA SAPAPGHH*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKA SAPAPGHH*
speed 0.13 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: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000555030
Genbank transcript ID N/A
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.76A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 300 / 300
position (AA) of stopcodon in wt / mu AA sequence 100 / 100
position of stopcodon in wt / mu cDNA 351 / 351
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 52 / 52
chromosome 14
strand -1
last intron/exon boundary 355
theoretical NMD boundary in CDS 253
length of CDS 300
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 76
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA AEMGFCHVTQ AGLELLGSSS
PPILASQSAG INKREPQHLA QLGNFEQDFN IRIIKEVRL*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA AEMGFCHVTQ AGLELLGSSS
PPILASQSAG INKREPQHLA QLGNFEQDFN IRIIKEVRL*
speed 1.25 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: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000553430
Genbank transcript ID N/A
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.85A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 234 / 234
position (AA) of stopcodon in wt / mu AA sequence 78 / 78
position of stopcodon in wt / mu cDNA 294 / 294
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 61 / 61
chromosome 14
strand -1
last intron/exon boundary 185
theoretical NMD boundary in CDS 74
length of CDS 234
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 85
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKG KIFASENGWE
WKTASCLFRT RYIVVLN*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKG KIFASENGWE
WKTASCLFRT RYIVVLN*
speed 0.13 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: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000557040
Genbank transcript ID N/A
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.170A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 177 / 177
position (AA) of stopcodon in wt / mu AA sequence 59 / 59
position of stopcodon in wt / mu cDNA 322 / 322
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 146 / 146
chromosome 14
strand -1
last intron/exon boundary 294
theoretical NMD boundary in CDS 98
length of CDS 177
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 170
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKA SAPAPGHH*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA ADKRSKALKA SAPAPGHH*
speed 1.23 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: 0.999999999999934 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000554713
Genbank transcript ID N/A
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.25A>G
cDNA.76A>G
g.13105A>G
AA changes I9V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    9 MLQSIIKNVWIPMKPYYTKVYQ
Ptroglodytes  all identical  ENSPTRG00000006764  26 MLQSIIKNIWIPMKPYYTKVYQ
Mmulatta  all conserved  ENSMMUG00000004915  9 MLQSFIKNVWIPMKPYYTKVYQ
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9 MFQTLIQKVWVPMKPYYTQVYQ
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
1414MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
2038TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 300 / 300
position (AA) of stopcodon in wt / mu AA sequence 100 / 100
position of stopcodon in wt / mu cDNA 351 / 351
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 52 / 52
chromosome 14
strand -1
last intron/exon boundary 331
theoretical NMD boundary in CDS 229
length of CDS 300
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 76
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MLQSIIKNIW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA AEMGFCHVTQ AGLELLGSSS
PPILASQSAG INKREPQHLA QLGNFEQDFN IRIIKEVRL*
mutated AA sequence MLQSIIKNVW IPMKPYYTKV YQEIWIGMGL MGFIVYKIRA AEMGFCHVTQ AGLELLGSSS
PPILASQSAG INKREPQHLA QLGNFEQDFN IRIIKEVRL*
speed 0.13 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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999852 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr14:104381502T>CN/A show variant in all transcripts   IGV
HGNC symbol ATP5MPL
Ensembl transcript ID ENST00000414262
Genbank transcript ID NM_001127393
UniProt peptide P56378
alteration type single base exchange
alteration region CDS
DNA changes c.76A>G
cDNA.326A>G
g.13105A>G
AA changes I26V Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 26
frameshift no
known variant Reference ID: rs1053419
databasehomozygous (C/C)heterozygousallele carriers
1000G139640779
ExAC13931178413177
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.4030.012
0.2680.004
(flanking)-1.5910
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor gained131040.45mu: AAAAACGTATGGATC AAAC|gtat
Donor gained130990.96mu: TTATTAAAAACGTAT ATTA|aaaa
distance from splice site 25
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      26QCQMLQSIIKNIWIPMKPYYTKVY
mutated  all conserved    26QCQMLQSIIKNVWIPMKPYYTKV
Ptroglodytes  all identical  ENSPTRG00000006764  26QCQMLQSIIKNIWIPMKPYYTKV
Mmulatta  all conserved  ENSMMUG00000004915  9MLQSFIKNVWIPMKPYYTKV
Fcatus  no homologue    
Mmusculus  all conserved  ENSMUSG00000021290  9MFQTLIQKVWVPMKPYYTQV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
2038TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 228 / 228
position (AA) of stopcodon in wt / mu AA sequence 76 / 76
position of stopcodon in wt / mu cDNA 478 / 478
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 251 / 251
chromosome 14
strand -1
last intron/exon boundary 450
theoretical NMD boundary in CDS 149
length of CDS 228
coding sequence (CDS) position 76
cDNA position
(for ins/del: last normal base / first normal base)		 326
gDNA position
(for ins/del: last normal base / first normal base)		 13105
chromosomal position
(for ins/del: last normal base / first normal base)		 104381502
original gDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered gDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
original cDNA sequence snippet TTCAAAGTATTATTAAAAACATATGGATCCCCATGAAGCCC
altered cDNA sequence snippet TTCAAAGTATTATTAAAAACGTATGGATCCCCATGAAGCCC
wildtype AA sequence MKLYGTRGSD ISHFQCQMLQ SIIKNIWIPM KPYYTKVYQE IWIGMGLMGF IVYKIRAADK
RSKALKASAP APGHH*
mutated AA sequence MKLYGTRGSD ISHFQCQMLQ SIIKNVWIPM KPYYTKVYQE IWIGMGLMGF IVYKIRAADK
RSKALKASAP APGHH*
speed 1.27 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