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 2 transcript(s)...
Querying Taster for transcript #1: ENST00000283441
Querying Taster for transcript #2: ENST00000424784
MT speed 2.15 s - this script 5.541451 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
ZDHHC11polymorphism_automatic1.84963155902551e-13simple_aaeaffectedR341Qsingle base exchangers1809008show file
ZDHHC11polymorphism_automatic1.84963155902551e-13simple_aaeaffectedR341Qsingle base exchangers1809008show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999815 (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) chr5:825280C>TN/A show variant in all transcripts   IGV
HGNC symbol ZDHHC11
Ensembl transcript ID ENST00000283441
Genbank transcript ID NM_024786
UniProt peptide Q9H8X9
alteration type single base exchange
alteration region CDS
DNA changes c.1022G>A
cDNA.1406G>A
g.25822G>A
AA changes R341Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
341
frameshift no
known variant Reference ID: rs1809008
databasehomozygous (T/T)heterozygousallele carriers
1000G35311681521
ExAC31492044523594
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.005
-1.1690.002
(flanking)-1.4350.001
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 lost25823sequence motif lost- wt: ACGG|gtaa
 mu: ACAG.gtaa
Donor marginally increased25822wt: 0.9944 / mu: 0.9976 (marginal change - not scored)wt: GGCACGGGTAAGTTG
mu: GGCACAGGTAAGTTG
 CACG|ggta
Donor gained258180.53mu: CGACGGCACAGGTAA ACGG|caca
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      341TSVNQDGDSTAREGDEDPCPSALG
mutated  all conserved    341TSVNQDGDSTAQEGDEDPCPSAL
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000069189  n/a
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000014203  n/a
Drerio  no alignment  ENSDARG00000076202  n/a
Dmelanogaster  no alignment  FBgn0031239  n/a
Celegans  no alignment  T22E7.2  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1623 / 1623
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 385 / 385
chromosome 5
strand -1
last intron/exon boundary 1631
theoretical NMD boundary in CDS 1196
length of CDS 1239
coding sequence (CDS) position 1022
cDNA position
(for ins/del: last normal base / first normal base)
1406
gDNA position
(for ins/del: last normal base / first normal base)
25822
chromosomal position
(for ins/del: last normal base / first normal base)
825280
original gDNA sequence snippet GGATGGGGATTCGACGGCACGGGTAAGTTGCAGTCACCAGC
altered gDNA sequence snippet GGATGGGGATTCGACGGCACAGGTAAGTTGCAGTCACCAGC
original cDNA sequence snippet GGATGGGGATTCGACGGCACGGGAAGGGGATGAAGACCCGT
altered cDNA sequence snippet GGATGGGGATTCGACGGCACAGGAAGGGGATGAAGACCCGT
wildtype AA sequence MDTRSGSQCS VTPEAILNNE KLVLPPRISR VNGWSLPLHY FQVVTWAVFV GLSSATFGIF
IPFLPHAWKY IAYVVTGGIF SFHLVVHLIA SCIDPADSNV RLMKNYSQPM PLFDRSKHAH
VIQNQFCHLC KVTVNKKTKH CISCNKCVSG FDHHCKWINN CVGSRNYWFF FSTVASATAG
MLCLIAILLY VLVQYLVNPG VLRTDPRYED VKNMNTWLLF LPLFPVQVQT LIVVIIGMLV
LLLDFLGLVH LGQLLIFHIY LKAKKMTTFE YLINNRKEES SKHQAVRKDP YVQMDKGVLQ
QGAGALGSSA QGVKAKSSLL IHKHLCHFCT SVNQDGDSTA REGDEDPCPS ALGAKARNSR
LICRRLCQFS TRVHPDGGSM AQEADDAPSI STLGLQQETT EPMKTDSAES ED*
mutated AA sequence MDTRSGSQCS VTPEAILNNE KLVLPPRISR VNGWSLPLHY FQVVTWAVFV GLSSATFGIF
IPFLPHAWKY IAYVVTGGIF SFHLVVHLIA SCIDPADSNV RLMKNYSQPM PLFDRSKHAH
VIQNQFCHLC KVTVNKKTKH CISCNKCVSG FDHHCKWINN CVGSRNYWFF FSTVASATAG
MLCLIAILLY VLVQYLVNPG VLRTDPRYED VKNMNTWLLF LPLFPVQVQT LIVVIIGMLV
LLLDFLGLVH LGQLLIFHIY LKAKKMTTFE YLINNRKEES SKHQAVRKDP YVQMDKGVLQ
QGAGALGSSA QGVKAKSSLL IHKHLCHFCT SVNQDGDSTA QEGDEDPCPS ALGAKARNSR
LICRRLCQFS TRVHPDGGSM AQEADDAPSI STLGLQQETT EPMKTDSAES ED*
speed 0.99 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: 0.999999999999815 (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) chr5:825280C>TN/A show variant in all transcripts   IGV
HGNC symbol ZDHHC11
Ensembl transcript ID ENST00000424784
Genbank transcript ID N/A
UniProt peptide Q9H8X9
alteration type single base exchange
alteration region CDS
DNA changes c.1022G>A
cDNA.1025G>A
g.25822G>A
AA changes R341Q Score: 43 explain score(s)
position(s) of altered AA
if AA alteration in CDS
341
frameshift no
known variant Reference ID: rs1809008
databasehomozygous (T/T)heterozygousallele carriers
1000G35311681521
ExAC31492044523594
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1780.005
-1.1690.002
(flanking)-1.4350.001
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 lost25823sequence motif lost- wt: ACGG|gtaa
 mu: ACAG.gtaa
Donor marginally increased25822wt: 0.9944 / mu: 0.9976 (marginal change - not scored)wt: GGCACGGGTAAGTTG
mu: GGCACAGGTAAGTTG
 CACG|ggta
Donor gained258180.53mu: CGACGGCACAGGTAA ACGG|caca
distance from splice site 2
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      341TSVNQDGDSTAREGDEDPCPSALG
mutated  all conserved    341TSVNQDGDSTAQEGDEDPCPSAL
Ptroglodytes  no homologue    
Mmulatta  no homologue    
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000069189  n/a
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000014203  n/a
Drerio  no alignment  ENSDARG00000076202  n/a
Dmelanogaster  no alignment  FBgn0031239  n/a
Celegans  no alignment  T22E7.2  n/a
Xtropicalis  no homologue    
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1239 / 1239
position (AA) of stopcodon in wt / mu AA sequence 413 / 413
position of stopcodon in wt / mu cDNA 1242 / 1242
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 4 / 4
chromosome 5
strand -1
last intron/exon boundary 2008
theoretical NMD boundary in CDS 1954
length of CDS 1239
coding sequence (CDS) position 1022
cDNA position
(for ins/del: last normal base / first normal base)
1025
gDNA position
(for ins/del: last normal base / first normal base)
25822
chromosomal position
(for ins/del: last normal base / first normal base)
825280
original gDNA sequence snippet GGATGGGGATTCGACGGCACGGGTAAGTTGCAGTCACCAGC
altered gDNA sequence snippet GGATGGGGATTCGACGGCACAGGTAAGTTGCAGTCACCAGC
original cDNA sequence snippet GGATGGGGATTCGACGGCACGGGAAGGGGATGAAGACCCGT
altered cDNA sequence snippet GGATGGGGATTCGACGGCACAGGAAGGGGATGAAGACCCGT
wildtype AA sequence MDTRSGSQCS VTPEAILNNE KLVLPPRISR VNGWSLPLHY FQVVTWAVFV GLSSATFGIF
IPFLPHAWKY IAYVVTGGIF SFHLVVHLIA SCIDPADSNV RLMKNYSQPM PLFDRSKHAH
VIQNQFCHLC KVTVNKKTKH CISCNKCVSG FDHHCKWINN CVGSRNYWFF FSTVASATAG
MLCLIAILLY VLVQYLVNPG VLRTDPRYED VKNMNTWLLF LPLFPVQVQT LIVVIIGMLV
LLLDFLGLVH LGQLLIFHIY LKAKKMTTFE YLINNRKEES SKHQAVRKDP YVQMDKGVLQ
QGAGALGSSA QGVKAKSSLL IHKHLCHFCT SVNQDGDSTA REGDEDPCPS ALGAKARNSR
LICRRLCQFS TRVHPDGGSM AQEADDAPSI STLGLQQETT EPMKTDSAES ED*
mutated AA sequence MDTRSGSQCS VTPEAILNNE KLVLPPRISR VNGWSLPLHY FQVVTWAVFV GLSSATFGIF
IPFLPHAWKY IAYVVTGGIF SFHLVVHLIA SCIDPADSNV RLMKNYSQPM PLFDRSKHAH
VIQNQFCHLC KVTVNKKTKH CISCNKCVSG FDHHCKWINN CVGSRNYWFF FSTVASATAG
MLCLIAILLY VLVQYLVNPG VLRTDPRYED VKNMNTWLLF LPLFPVQVQT LIVVIIGMLV
LLLDFLGLVH LGQLLIFHIY LKAKKMTTFE YLINNRKEES SKHQAVRKDP YVQMDKGVLQ
QGAGALGSSA QGVKAKSSLL IHKHLCHFCT SVNQDGDSTA QEGDEDPCPS ALGAKARNSR
LICRRLCQFS TRVHPDGGSM AQEADDAPSI STLGLQQETT EPMKTDSAES ED*
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

Problems