Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 8 transcript(s)...
Querying Taster for transcript #1: ENST00000518235
Querying Taster for transcript #2: ENST00000520698
Querying Taster for transcript #3: ENST00000376931
Querying Taster for transcript #4: ENST00000518219
Querying Taster for transcript #5: ENST00000523084
Querying Taster for transcript #6: ENST00000292586
Querying Taster for transcript #7: ENST00000521333
Querying Taster for transcript #8: ENST00000403396
MT speed 0 s - this script 7.90817 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
MRNIPpolymorphism_automatic1.2019302098043e-07simple_aaeaffectedQ42Rsingle base exchangers1650893show file
MRNIPpolymorphism_automatic1.2019302098043e-07simple_aaeaffectedQ42Rsingle base exchangers1650893show file
MRNIPpolymorphism_automatic1.2019302098043e-07simple_aaeaffectedQ42Rsingle base exchangers1650893show file
MRNIPpolymorphism_automatic1.2019302098043e-07simple_aaeaffectedQ42Rsingle base exchangers1650893show file
MRNIPpolymorphism_automatic3.19788103997354e-07simple_aaeaffectedQ42Rsingle base exchangers1650893show file
MRNIPpolymorphism_automatic6.53823873097981e-06simple_aaeaffectedQ42Rsingle base exchangers1650893show file
MRNIPpolymorphism_automatic0.99999999999578without_aaeaffectedsingle base exchangers1650893show file
MRNIPpolymorphism_automatic0.999999999999752without_aaeaffectedsingle base exchangers1650893show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999879806979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000518235
Genbank transcript ID N/A
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.135A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQAYGEGSGADCRR
mutated  all conserved    42CKACGEKQSFLRAYGEGSGADCR
Ptroglodytes  all conserved  ENSPTRG00000017627  42CKACGEKQSFLRAYGEGSGADCR
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  42CKACGEKQSFLRXXXXXXXXXXX
Mmusculus  all conserved  ENSMUSG00000020381  42CKACGEKQSFVRAYGEGSGADCR
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGSGRDCR
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 690 / 690
position (AA) of stopcodon in wt / mu AA sequence 230 / 230
position of stopcodon in wt / mu cDNA 700 / 700
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 11 / 11
chromosome 5
strand -1
last intron/exon boundary 674
theoretical NMD boundary in CDS 613
length of CDS 690
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 135
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGCTTATGGTGAAGGCTCTG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGCTTATGGTGAAGGCTCTG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ AGNVKQQEKS QPSESRWLKY LEKDSQELEL
EGTGVCFSKQ PSSKMEEPGP RFSQDLPRKR KWSRSTVQPP CSRGVQDSGG SEVAWGPQKG
QAGLTWKVKQ GSSPCLQENS ADCSAGELRG PGKELWSPIQ QDGYKEILF*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LRAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ AGNVKQQEKS QPSESRWLKY LEKDSQELEL
EGTGVCFSKQ PSSKMEEPGP RFSQDLPRKR KWSRSTVQPP CSRGVQDSGG SEVAWGPQKG
QAGLTWKVKQ GSSPCLQENS ADCSAGELRG PGKELWSPIQ QDGYKEILF*
speed 1.15 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: 0.999999879806979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000518219
Genbank transcript ID N/A
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.137A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQAYGEGSGADCRR
mutated  all conserved    42CKACGEKQSFLRAYGEGSGADCR
Ptroglodytes  all conserved  ENSPTRG00000017627  42CKACGEKQSFLRAYGEGSGADCR
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  42CKACGEKQSFLRXXXXXXXXXXX
Mmusculus  all conserved  ENSMUSG00000020381  42CKACGEKQSFVRAYGEGSGADCR
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGSGRDCR
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 579 / 579
position (AA) of stopcodon in wt / mu AA sequence 193 / 193
position of stopcodon in wt / mu cDNA 591 / 591
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 13 / 13
chromosome 5
strand -1
last intron/exon boundary 462
theoretical NMD boundary in CDS 399
length of CDS 579
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 137
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGCTTATGGTGAAGGCTCTG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGCTTATGGTGAAGGCTCTG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ AGNVKQQEKS QPSESRWLKY LEKDSQELEL
EGTGVCFSKQ PSSKMEEPGP RFSQDLPRKR KWSRSTVQPP CSRGVQDSGG SEVAWGPQKV
SDKQFLSGPS DH*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LRAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ AGNVKQQEKS QPSESRWLKY LEKDSQELEL
EGTGVCFSKQ PSSKMEEPGP RFSQDLPRKR KWSRSTVQPP CSRGVQDSGG SEVAWGPQKV
SDKQFLSGPS DH*
speed 0.70 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: 0.999999879806979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000521333
Genbank transcript ID N/A
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.146A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQAYGEGSGADCRR
mutated  all conserved    42CKACGEKQSFLRAYGEGSGADCR
Ptroglodytes  all conserved  ENSPTRG00000017627  42CKACGEKQSFLRAYGEGSGADCR
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  42CKACGEKQSFLRXXXXXXXXXXX
Mmusculus  all conserved  ENSMUSG00000020381  42CKACGEKQSFVRAYGEGSGADCR
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGSGRDCR
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 342 / 342
position (AA) of stopcodon in wt / mu AA sequence 114 / 114
position of stopcodon in wt / mu cDNA 363 / 363
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 22 / 22
chromosome 5
strand -1
last intron/exon boundary 292
theoretical NMD boundary in CDS 220
length of CDS 342
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 146
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGCTTATGGTGAAGGCTCTG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGCTTATGGTGAAGGCTCTG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ CRGAEGSWEG AMESHPAGYS HIL*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LRAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ CRGAEGSWEG AMESHPAGYS HIL*
speed 1.16 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: 0.999999879806979 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000292586
Genbank transcript ID NM_016175
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.216A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQAYGEGSGADCRR
mutated  all conserved    42CKACGEKQSFLRAYGEGSGADCR
Ptroglodytes  all conserved  ENSPTRG00000017627  42CKACGEKQSFLRAYGEGSGADCR
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  42CKACGEKQSFLRXXXXXXXXXXX
Mmusculus  all conserved  ENSMUSG00000020381  42CKACGEKQSFVRAYGEGSGADCR
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGSGRDCR
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1032 / 1032
position (AA) of stopcodon in wt / mu AA sequence 344 / 344
position of stopcodon in wt / mu cDNA 1123 / 1123
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now		 N/A
position of start ATG in wt / mu cDNA 92 / 92
chromosome 5
strand -1
last intron/exon boundary 629
theoretical NMD boundary in CDS 487
length of CDS 1032
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 216
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGCTTATGGTGAAGGCTCTG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGCTTATGGTGAAGGCTCTG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ AGNVKQQEKS QPSESRWLKY LEKDSQELEL
EGTGVCFSKQ PSSKMEEPGP RFSQDLPRKR KWSRSTVQPP CSRGVQDSGG SEVAWGPQKG
QAGLTWKVKQ GSSPCLQENS ADCSAGELRG PGKELWSPIQ QVTATSSKWA QFVLPPRKSS
HVDSEQPRSL QRDPRPAGPA QAKQGTPRAQ ASREGLSRPT AAVQLPRATH PVTSGSERPC
GKTSWDARTP WAEGGPLVLE AQNPRPTRLC DLFITGEDFD DDV*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LRAYGEGSGA DCRRHVQKLN
LLQGQVSELP LRSLEETVSA SEEENVGHQQ AGNVKQQEKS QPSESRWLKY LEKDSQELEL
EGTGVCFSKQ PSSKMEEPGP RFSQDLPRKR KWSRSTVQPP CSRGVQDSGG SEVAWGPQKG
QAGLTWKVKQ GSSPCLQENS ADCSAGELRG PGKELWSPIQ QVTATSSKWA QFVLPPRKSS
HVDSEQPRSL QRDPRPAGPA QAKQGTPRAQ ASREGLSRPT AAVQLPRATH PVTSGSERPC
GKTSWDARTP WAEGGPLVLE AQNPRPTRLC DLFITGEDFD DDV*
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: 0.999999680211896 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000520698
Genbank transcript ID N/A
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.126A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQEKSQPSESRWLK
mutated  all conserved    42CKACGEKQSFLREKSQPSESRWL
Ptroglodytes  not conserved  ENSPTRG00000017627  63LLQGQVSELPLRSLEETVSASEEENVGHQQAGNVKQQEKSQPSESRWL
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  61XXXXXXXXXXXXSLEEPVNIDEEDNAEPQQAEHVSSQEKPQSSENRWL
Mmusculus  all conserved  ENSMUSG00000020381  42CKACGEKQSFVRAYGEGSGADCR
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGS
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR-V
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 525 / 525
position (AA) of stopcodon in wt / mu AA sequence 175 / 175
position of stopcodon in wt / mu cDNA 526 / 526
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 2 / 2
chromosome 5
strand -1
last intron/exon boundary 500
theoretical NMD boundary in CDS 448
length of CDS 525
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 126
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGAAAAATCGCAGCCCTCAG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGAAAAATCGCAGCCCTCAG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQEKSQPSES RWLKYLEKDS
QELELEGTGV CFSKQPSSKM EEPGPRFSQD LPRKRKWSRS TVQPPCSRGV QDSGGSEVAW
GPQKGQAGLT WKVKQGSSPC LQENSADCSA GELRGPGKEL WSPIQQDGYK EILF*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LREKSQPSES RWLKYLEKDS
QELELEGTGV CFSKQPSSKM EEPGPRFSQD LPRKRKWSRS TVQPPCSRGV QDSGGSEVAW
GPQKGQAGLT WKVKQGSSPC LQENSADCSA GELRGPGKEL WSPIQQDGYK EILF*
speed 0.69 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: 0.999993461761269 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000376931
Genbank transcript ID NM_001017987
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.125A>G
cDNA.137A>G
g.8795A>G
AA changes Q42R Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 42
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      42CKACGEKQSFLQEKSQPSESRWLK
mutated  all conserved    42CKACGEKQSFLREKSQPSESRWL
Ptroglodytes  not conserved  ENSPTRG00000017627  63LLQGQVSELPLRSLEETVSASEEENVGHQQAGNVKQQEKSQPSESRWL
Mmulatta  all conserved  ENSMMUG00000021056  42CKACGEKQSFLR
Fcatus  all conserved  ENSFCAG00000014705  61XXXXXXXXXXXXSLEEPVNIDEEDNAEPQQAEHVSSQEKPQSSENRWL
Mmusculus  all identical  ENSMUSG00000020381  63LLQGQVSELSLRSVEEAVNGSEEENAGPLQAEAGSQQAPSKPLESRWL
Ggallus  all conserved  ENSGALG00000005890  40CSVCGQRQALQKVYGQGS
Trubripes  no homologue    
Drerio  all conserved  ENSDARG00000074071  40CKVCGEKQSLIKEFGRGAAADCR
Dmelanogaster  all conserved  FBgn0262987  40CKICRQKQSLLKEFFRGSAAECR-V
Celegans  no homologue    
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 867 / 867
position (AA) of stopcodon in wt / mu AA sequence 289 / 289
position of stopcodon in wt / mu cDNA 879 / 879
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 13 / 13
chromosome 5
strand -1
last intron/exon boundary 385
theoretical NMD boundary in CDS 322
length of CDS 867
coding sequence (CDS) position 125
cDNA position
(for ins/del: last normal base / first normal base)		 137
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGAAAAATCGCAGCCCTCAG
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGAAAAATCGCAGCCCTCAG
wildtype AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LQEKSQPSES RWLKYLEKDS
QELELEGTGV CFSKQPSSKM EEPGPRFSQD LPRKRKWSRS TVQPPCSRGV QDSGGSEVAW
GPQKGQAGLT WKVKQGSSPC LQENSADCSA GELRGPGKEL WSPIQQVTAT SSKWAQFVLP
PRKSSHVDSE QPRSLQRDPR PAGPAQAKQG TPRAQASREG LSRPTAAVQL PRATHPVTSG
SERPCGKTSW DARTPWAEGG PLVLEAQNPR PTRLCDLFIT GEDFDDDV*
mutated AA sequence MASLQRSRVL RCCSCRLFQA HQVKKSVKWT CKACGEKQSF LREKSQPSES RWLKYLEKDS
QELELEGTGV CFSKQPSSKM EEPGPRFSQD LPRKRKWSRS TVQPPCSRGV QDSGGSEVAW
GPQKGQAGLT WKVKQGSSPC LQENSADCSA GELRGPGKEL WSPIQQVTAT SSKWAQFVLP
PRKSSHVDSE QPRSLQRDPR PAGPAQAKQG TPRAQASREG LSRPTAAVQL PRATHPVTSG
SERPCGKTSW DARTPWAEGG PLVLEAQNPR PTRLCDLFIT GEDFDDDV*
speed 1.09 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: without_aae, prob: 4.2197527995458e-12 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000403396
Genbank transcript ID N/A
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region CDS
DNA changes c.171A>G
cDNA.189A>G
g.8795A>G
AA changes no AA changes
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift no
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
length of protein normal
AA sequence altered no
position of stopcodon in wt / mu CDS 816 / 816
position (AA) of stopcodon in wt / mu AA sequence 272 / 272
position of stopcodon in wt / mu cDNA 834 / 834
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 19 / 19
chromosome 5
strand -1
last intron/exon boundary 808
theoretical NMD boundary in CDS 739
length of CDS 816
coding sequence (CDS) position 171
cDNA position
(for ins/del: last normal base / first normal base)		 189
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGAGTTCCCCAGACACGGAGC
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGAGTTCCCCAGACACGGAGC
wildtype AA sequence MQSARAWLPG DCTSRDGVAS AFSGATLLQL PPLPGAPGKK ECQVDMQSLW REAVLFAEFP
RHGAPASELP VPSGSEMDGA ESGKAYGEGS GADCRRHVQK LNLLQGQVSE LPLRSLEETV
SASEEENVGH QQAGNVKQQE KSQPSESRWL KYLEKDSQEL ELEGTGVCFS KQPSSKMEEP
GPRFSQDLPR KRKWSRSTVQ PPCSRGVQDS GGSEVAWGPQ KGQAGLTWKV KQGSSPCLQE
NSADCSAGEL RGPGKELWSP IQQDGYKEIL F*
mutated AA sequence MQSARAWLPG DCTSRDGVAS AFSGATLLQL PPLPGAPGKK ECQVDMQSLW REAVLFAEFP
RHGAPASELP VPSGSEMDGA ESGKAYGEGS GADCRRHVQK LNLLQGQVSE LPLRSLEETV
SASEEENVGH QQAGNVKQQE KSQPSESRWL KYLEKDSQEL ELEGTGVCFS KQPSSKMEEP
GPRFSQDLPR KRKWSRSTVQ PPCSRGVQDS GGSEVAWGPQ KGQAGLTWKV KQGSSPCLQE
NSADCSAGEL RGPGKELWSP IQQDGYKEIL F*
speed 0.78 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: without_aae, prob: 2.47779544195202e-13 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr5:179280379T>CN/A show variant in all transcripts   IGV
HGNC symbol MRNIP
Ensembl transcript ID ENST00000523084
Genbank transcript ID N/A
UniProt peptide Q6NTE8
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.163A>G
g.8795A>G
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs1650893
databasehomozygous (C/C)heterozygousallele carriers
1000G---
ExAC25523-182797244
regulatory features H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H3K27ac, Histone, Histone 3 Lysine 27 Acetylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.1111
0.2840.982
(flanking)0.9060.976
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites alteration within used splice site, likely to disturb normal splicing
splice site change before start ATG (at aa -62) | splice site change before start ATG (at aa -61) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor lost8796sequence motif lost- wt: GCAG|gtga
 mu: GCGG.gtga
Acc marginally decreased8796wt: 0.8480 / mu: 0.8448 (marginal change - not scored)wt: GAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAA
mu: GAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAA		 gcag|GTGA
Acc increased8794wt: 0.22 / mu: 0.49wt: GAGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAG
mu: GAGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAG		 ttgc|AGGT
Acc marginally increased8800wt: 0.9383 / mu: 0.9397 (marginal change - not scored)wt: AGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGAAAGCA
mu: AGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGAAAGCA		 gtga|GTCC
Donor marginally increased8795wt: 0.9897 / mu: 0.9913 (marginal change - not scored)wt: TTTGCAGGTGAGTCC
mu: TTTGCGGGTGAGTCC		 TGCA|ggtg
distance from splice site 2
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features no protein features affected
length of protein N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 352 / 352
chromosome 5
strand -1
last intron/exon boundary 487
theoretical NMD boundary in CDS 85
length of CDS 630
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 163
gDNA position
(for ins/del: last normal base / first normal base)		 8795
chromosomal position
(for ins/del: last normal base / first normal base)		 179280379
original gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTGAGTCCTACAAAACAGA
altered gDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTGAGTCCTACAAAACAGA
original cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCAGGTCTCTAGAAGAAACTGTC
altered cDNA sequence snippet AGAGAAGCAGTCCTTTTTGCGGGTCTCTAGAAGAAACTGTC
wildtype AA sequence MEEPGPRFSQ DLPRKRKWSR STVQPPCSRG VQDSGGSEVA WGPQKGQAGL TWKVKQGSSP
CLQENSADCS AGELRGPGKE LWSPIQQVTA TSSKWAQFVL PPRKSSHVDS EQPRSLQRDP
RPAGPAQAKQ GTPRAQASRE GLSRPTAAVQ LPRATHPVTS GSERPCGKTS WDARTPWAEG
GPLVLEAQNP RPTRLCDLFI TGEDFDDDV*
mutated AA sequence N/A
speed 0.60 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

Problems