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 5 transcript(s)...
Querying Taster for transcript #1: ENST00000426034
Querying Taster for transcript #2: ENST00000357203
Querying Taster for transcript #3: ENST00000449241
Querying Taster for transcript #4: ENST00000441239
Querying Taster for transcript #5: ENST00000422619
MT speed 0 s - this script 7.142146 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
C3orf18polymorphism_automatic0.999993938224279simple_aaeaffectedA162Vsingle base exchangers1034405show file
C3orf18polymorphism_automatic0.999993938224279simple_aaeaffectedA162Vsingle base exchangers1034405show file
C3orf18polymorphism_automatic0.999993938224279simple_aaeaffectedA162Vsingle base exchangers1034405show file
C3orf18polymorphism_automatic0.999993938224279simple_aaeaffectedA142Vsingle base exchangers1034405show file
C3orf18polymorphism_automatic0.999993938224279simple_aaeaffectedA110Vsingle base exchangers1034405show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 6.06177572093911e-06 (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) chr3:50597092G>AN/A show variant in all transcripts   IGV
HGNC symbol C3orf18
Ensembl transcript ID ENST00000426034
Genbank transcript ID NM_001171740
UniProt peptide Q9UK00
alteration type single base exchange
alteration region CDS
DNA changes c.485C>T
cDNA.850C>T
g.11367C>T
AA changes A162V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
162
frameshift no
known variant Reference ID: rs1034405
databasehomozygous (A/A)heterozygousallele carriers
1000G17746222396
ExAC27687-226075080
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5840.577
5.0851
(flanking)3.5211
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 164)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased11371wt: 0.56 / mu: 0.72wt: GCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGCCTGG
mu: GCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGCCTGG
 gtga|GTGG
Donor marginally increased11360wt: 0.8623 / mu: 0.9488 (marginal change - not scored)wt: ATGCCATCCATGCGT
mu: ATGCCATCCATGTGT
 GCCA|tcca
distance from splice site 77
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      162LVFTDVANAIHA*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000014965  162LVFTDVANAIHA
Mmulatta  all identical  ENSMMUG00000010499  162LVFTDVANAIHA
Fcatus  all identical  ENSFCAG00000007017  162LVFTDVANAIHA
Mmusculus  all identical  ENSMUSG00000037977  164LVFTDVANAIHA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012231  168LVFTDVAKALNA
Drerio  all identical  ENSDARG00000078609  119LVFTDVADAINA
Dmelanogaster  no homologue    
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 489 / 489
position (AA) of stopcodon in wt / mu AA sequence 163 / 163
position of stopcodon in wt / mu cDNA 854 / 854
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 366 / 366
chromosome 3
strand -1
last intron/exon boundary 774
theoretical NMD boundary in CDS 358
length of CDS 489
coding sequence (CDS) position 485
cDNA position
(for ins/del: last normal base / first normal base)
850
gDNA position
(for ins/del: last normal base / first normal base)
11367
chromosomal position
(for ins/del: last normal base / first normal base)
50597092
original gDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered gDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
original cDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered cDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
wildtype AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVG
TMLLSFGIIT VIGLAVALVL YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD
AASVQAATSV QAMQGKTTLP SQGPLQRPSR LVFTDVANAI HA*
mutated AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVG
TMLLSFGIIT VIGLAVALVL YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD
AASVQAATSV QAMQGKTTLP SQGPLQRPSR LVFTDVANAI HV*
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: 6.06177572093911e-06 (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) chr3:50597092G>AN/A show variant in all transcripts   IGV
HGNC symbol C3orf18
Ensembl transcript ID ENST00000449241
Genbank transcript ID NM_001171741
UniProt peptide Q9UK00
alteration type single base exchange
alteration region CDS
DNA changes c.485C>T
cDNA.736C>T
g.11367C>T
AA changes A162V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
162
frameshift no
known variant Reference ID: rs1034405
databasehomozygous (A/A)heterozygousallele carriers
1000G17746222396
ExAC27687-226075080
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5840.577
5.0851
(flanking)3.5211
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 164)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased11371wt: 0.56 / mu: 0.72wt: GCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGCCTGG
mu: GCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGCCTGG
 gtga|GTGG
Donor marginally increased11360wt: 0.8623 / mu: 0.9488 (marginal change - not scored)wt: ATGCCATCCATGCGT
mu: ATGCCATCCATGTGT
 GCCA|tcca
distance from splice site 77
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      162LVFTDVANAIHA*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000014965  162LVFTDVANAIHA
Mmulatta  all identical  ENSMMUG00000010499  162LVFTDVANAIHA
Fcatus  all identical  ENSFCAG00000007017  162LVFTDVANAIHA
Mmusculus  all identical  ENSMUSG00000037977  164LVFTDVANAIHA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012231  168LVFTDVAKALNA
Drerio  all identical  ENSDARG00000078609  119LVFTDVADAINA
Dmelanogaster  no homologue    
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 489 / 489
position (AA) of stopcodon in wt / mu AA sequence 163 / 163
position of stopcodon in wt / mu cDNA 740 / 740
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 252 / 252
chromosome 3
strand -1
last intron/exon boundary 660
theoretical NMD boundary in CDS 358
length of CDS 489
coding sequence (CDS) position 485
cDNA position
(for ins/del: last normal base / first normal base)
736
gDNA position
(for ins/del: last normal base / first normal base)
11367
chromosomal position
(for ins/del: last normal base / first normal base)
50597092
original gDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered gDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
original cDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered cDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
wildtype AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVG
TMLLSFGIIT VIGLAVALVL YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD
AASVQAATSV QAMQGKTTLP SQGPLQRPSR LVFTDVANAI HA*
mutated AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVG
TMLLSFGIIT VIGLAVALVL YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD
AASVQAATSV QAMQGKTTLP SQGPLQRPSR LVFTDVANAI HV*
speed 1.30 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: 6.06177572093911e-06 (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) chr3:50597092G>AN/A show variant in all transcripts   IGV
HGNC symbol C3orf18
Ensembl transcript ID ENST00000357203
Genbank transcript ID NM_016210
UniProt peptide Q9UK00
alteration type single base exchange
alteration region CDS
DNA changes c.485C>T
cDNA.1025C>T
g.11367C>T
AA changes A162V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
162
frameshift no
known variant Reference ID: rs1034405
databasehomozygous (A/A)heterozygousallele carriers
1000G17746222396
ExAC27687-226075080
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5840.577
5.0851
(flanking)3.5211
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 164)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased11371wt: 0.56 / mu: 0.72wt: GCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGCCTGG
mu: GCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGCCTGG
 gtga|GTGG
Donor marginally increased11360wt: 0.8623 / mu: 0.9488 (marginal change - not scored)wt: ATGCCATCCATGCGT
mu: ATGCCATCCATGTGT
 GCCA|tcca
distance from splice site 77
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      162LVFTDVANAIHA*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000014965  162LVFTDVANAIHA
Mmulatta  all identical  ENSMMUG00000010499  162LVFTDVANAIHA
Fcatus  all identical  ENSFCAG00000007017  162LVFTDVANAIHA
Mmusculus  all identical  ENSMUSG00000037977  164LVFTDVANAIHA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012231  168LVFTDVAKALNA
Drerio  all identical  ENSDARG00000078609  119LVFTDVADAINA
Dmelanogaster  no homologue    
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 489 / 489
position (AA) of stopcodon in wt / mu AA sequence 163 / 163
position of stopcodon in wt / mu cDNA 1029 / 1029
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 541 / 541
chromosome 3
strand -1
last intron/exon boundary 949
theoretical NMD boundary in CDS 358
length of CDS 489
coding sequence (CDS) position 485
cDNA position
(for ins/del: last normal base / first normal base)
1025
gDNA position
(for ins/del: last normal base / first normal base)
11367
chromosomal position
(for ins/del: last normal base / first normal base)
50597092
original gDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered gDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
original cDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered cDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
wildtype AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVG
TMLLSFGIIT VIGLAVALVL YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD
AASVQAATSV QAMQGKTTLP SQGPLQRPSR LVFTDVANAI HA*
mutated AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVG
TMLLSFGIIT VIGLAVALVL YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD
AASVQAATSV QAMQGKTTLP SQGPLQRPSR LVFTDVANAI HV*
speed 1.17 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: 6.06177572093911e-06 (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) chr3:50597092G>AN/A show variant in all transcripts   IGV
HGNC symbol C3orf18
Ensembl transcript ID ENST00000441239
Genbank transcript ID NM_001171743
UniProt peptide Q9UK00
alteration type single base exchange
alteration region CDS
DNA changes c.425C>T
cDNA.640C>T
g.11367C>T
AA changes A142V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
142
frameshift no
known variant Reference ID: rs1034405
databasehomozygous (A/A)heterozygousallele carriers
1000G17746222396
ExAC27687-226075080
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5840.577
5.0851
(flanking)3.5211
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 144)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased11371wt: 0.56 / mu: 0.72wt: GCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGCCTGG
mu: GCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGCCTGG
 gtga|GTGG
Donor marginally increased11360wt: 0.8623 / mu: 0.9488 (marginal change - not scored)wt: ATGCCATCCATGCGT
mu: ATGCCATCCATGTGT
 GCCA|tcca
distance from splice site 77
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      142LVFTDVANAIHA*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000014965  162LVFTDVANAIHA
Mmulatta  all identical  ENSMMUG00000010499  162LVFTDVANAIHA
Fcatus  all identical  ENSFCAG00000007017  162LVFTDVANAIHA
Mmusculus  all identical  ENSMUSG00000037977  164LVFTDVANAIHA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012231  168LVFTDVAKALNA
Drerio  all identical  ENSDARG00000078609  118LVFTDVADAINA
Dmelanogaster  no homologue    
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 429 / 429
position (AA) of stopcodon in wt / mu AA sequence 143 / 143
position of stopcodon in wt / mu cDNA 644 / 644
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 216 / 216
chromosome 3
strand -1
last intron/exon boundary 564
theoretical NMD boundary in CDS 298
length of CDS 429
coding sequence (CDS) position 425
cDNA position
(for ins/del: last normal base / first normal base)
640
gDNA position
(for ins/del: last normal base / first normal base)
11367
chromosomal position
(for ins/del: last normal base / first normal base)
50597092
original gDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered gDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
original cDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered cDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
wildtype AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVL
YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD AASVQAATSV QAMQGKTTLP
SQGPLQRPSR LVFTDVANAI HA*
mutated AA sequence MNSRTASARG WFSSRPPTSE SDLEPATDGP ASETTTLSPE ATTFNDTRIP DAAGGTAGVL
YIRKKKRLEK LRHQLMPMYN FDPTEEQDEL EQELLEHGRD AASVQAATSV QAMQGKTTLP
SQGPLQRPSR LVFTDVANAI HV*
speed 1.34 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: 6.06177572093911e-06 (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) chr3:50597092G>AN/A show variant in all transcripts   IGV
HGNC symbol C3orf18
Ensembl transcript ID ENST00000422619
Genbank transcript ID N/A
UniProt peptide Q9UK00
alteration type single base exchange
alteration region CDS
DNA changes c.329C>T
cDNA.415C>T
g.11367C>T
AA changes A110V Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
110
frameshift no
known variant Reference ID: rs1034405
databasehomozygous (A/A)heterozygousallele carriers
1000G17746222396
ExAC27687-226075080
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.5840.577
5.0851
(flanking)3.5211
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change occurs after stopcodon (at aa 112)
effectgDNA positionscoredetection sequence  exon-intron border
Acc increased11371wt: 0.56 / mu: 0.72wt: GCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGCCTGG
mu: GCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGCCTGG
 gtga|GTGG
Donor marginally increased11360wt: 0.8623 / mu: 0.9488 (marginal change - not scored)wt: ATGCCATCCATGCGT
mu: ATGCCATCCATGTGT
 GCCA|tcca
distance from splice site 77
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      110LVFTDVANAIHA*
mutated  no alignment    n/a
Ptroglodytes  all identical  ENSPTRG00000014965  162LVFTDVANAIHA
Mmulatta  all identical  ENSMMUG00000010499  162LVFTDVANAIHA
Fcatus  all identical  ENSFCAG00000007017  162LVFTDVANAIHA
Mmusculus  all identical  ENSMUSG00000037977  164LVFTDVANAIHA
Ggallus  no homologue    
Trubripes  all identical  ENSTRUG00000012231  168LVFTDVAKALNA
Drerio  all identical  ENSDARG00000078609  118LVFTDVADAINA
Dmelanogaster  no homologue    
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 333 / 333
position (AA) of stopcodon in wt / mu AA sequence 111 / 111
position of stopcodon in wt / mu cDNA 419 / 419
poly(A) signal N/A
conservation
nucleotide level for all changes - no scoring up to now
N/A
position of start ATG in wt / mu cDNA 87 / 87
chromosome 3
strand -1
last intron/exon boundary 339
theoretical NMD boundary in CDS 202
length of CDS 333
coding sequence (CDS) position 329
cDNA position
(for ins/del: last normal base / first normal base)
415
gDNA position
(for ins/del: last normal base / first normal base)
11367
chromosomal position
(for ins/del: last normal base / first normal base)
50597092
original gDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered gDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
original cDNA sequence snippet TGTGGCCAATGCCATCCATGCGTGAGTGGCCTGGGACAAGC
altered cDNA sequence snippet TGTGGCCAATGCCATCCATGTGTGAGTGGCCTGGGACAAGC
wildtype AA sequence MSPSRRAAGF LRASSPCHLM LLLLLQVLYI RKKKRLEKLR HQLMPMYNFD PTEEQDELEQ
ELLEHGRDAA SVQAATSVQA MQGKTTLPSQ GPLQRPSRLV FTDVANAIHA *
mutated AA sequence MSPSRRAAGF LRASSPCHLM LLLLLQVLYI RKKKRLEKLR HQLMPMYNFD PTEEQDELEQ
ELLEHGRDAA SVQAATSVQA MQGKTTLPSQ GPLQRPSRLV FTDVANAIHV *
speed 1.34 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