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 4 transcript(s)...
Querying Taster for transcript #1: ENST00000460779
Querying Taster for transcript #2: ENST00000467632
Querying Taster for transcript #3: ENST00000295881
Querying Taster for transcript #4: ENST00000383673
MT speed 0 s - this script 7.04684 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
DRD3polymorphism_automatic2.4437948298317e-07simple_aaeaffectedG9Ssingle base exchangers6280show file
DRD3polymorphism_automatic2.4437948298317e-07simple_aaeaffectedG9Ssingle base exchangers6280show file
DRD3polymorphism_automatic2.4437948298317e-07simple_aaeaffectedG9Ssingle base exchangers6280show file
DRD3polymorphism_automatic2.4437948298317e-07simple_aaeaffectedG9Ssingle base exchangers6280show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999755620517 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM033372)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:113890815C>TN/A show variant in all transcripts   IGV
HGNC symbol DRD3
Ensembl transcript ID ENST00000460779
Genbank transcript ID N/A
UniProt peptide P35462
alteration type single base exchange
alteration region CDS
DNA changes c.25G>A
cDNA.315G>A
g.27440G>A
AA changes G9S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs6280
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC15240228717527

known disease mutation at this position, please check HGMD for details (HGMD ID CM033372)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6190.046
0.1340.063
(flanking)0.1110.845
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased27440wt: 0.36 / mu: 0.86wt: TGAGTGGCCACCTGA
mu: TGAGTAGCCACCTGA		 AGTG|gcca
Donor marginally increased27432wt: 0.9944 / mu: 0.9952 (marginal change - not scored)wt: GAGCCAGCTGAGTGG
mu: GAGCCAGCTGAGTAG		 GCCA|gctg
Donor gained274350.88mu: CCAGCTGAGTAGCCA AGCT|gagt
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MASLSQLSGHLNYTCGAENST
mutated  not conserved    9 MASLSQLSSHLNYTCGAENSTG
Ptroglodytes  all identical  ENSPTRG00000015241  9 MAPLSQLSGHLNYTCGAENSTG
Mmulatta  all identical  ENSMMUG00000022936  9 MAPLSQLSGHLNYTCGVENSTG
Fcatus  no alignment  ENSFCAG00000009553  n/a
Mmusculus  not conserved  ENSMUSG00000022705  9 MAPLSQISSHINSTCGAENSTG
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000000584  n/a
Drerio  no alignment  ENSDARG00000032131  n/a
Dmelanogaster  no alignment  FBgn0053517  n/a
Celegans  no alignment  K09G1.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
132TOPO_DOMExtracellular (Probable).lost
1212CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
1919CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
3355TRANSMEMHelical; Name=1.might get lost (downstream of altered splice site)
3556HELIXmight get lost (downstream of altered splice site)
5665TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
6381HELIXmight get lost (downstream of altered splice site)
6688TRANSMEMHelical; Name=2.might get lost (downstream of altered splice site)
8391HELIXmight get lost (downstream of altered splice site)
89104TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
9797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
100133HELIXmight get lost (downstream of altered splice site)
103103DISULFIDmight get lost (downstream of altered splice site)
105126TRANSMEMHelical; Name=3.might get lost (downstream of altered splice site)
110110BINDINGAgonist.might get lost (downstream of altered splice site)
127149TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
135140HELIXmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
147169HELIXmight get lost (downstream of altered splice site)
150170TRANSMEMHelical; Name=4.might get lost (downstream of altered splice site)
170172TURNmight get lost (downstream of altered splice site)
171187TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
186196HELIXmight get lost (downstream of altered splice site)
188212TRANSMEMHelical; Name=5.might get lost (downstream of altered splice site)
189196REGIONAgonist binding.might get lost (downstream of altered splice site)
198216HELIXmight get lost (downstream of altered splice site)
213329TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
322353HELIXmight get lost (downstream of altered splice site)
330351TRANSMEMHelical; Name=6.might get lost (downstream of altered splice site)
342350REGIONAgonist binding.might get lost (downstream of altered splice site)
352366TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
355355DISULFIDmight get lost (downstream of altered splice site)
358358DISULFIDmight get lost (downstream of altered splice site)
362386HELIXmight get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7.might get lost (downstream of altered splice site)
388398HELIXmight get lost (downstream of altered splice site)
389400TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
396396CONFLICTK -> L (in Ref. 7; AAH95510).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1203 / 1203
position (AA) of stopcodon in wt / mu AA sequence 401 / 401
position of stopcodon in wt / mu cDNA 1493 / 1493
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 291 / 291
chromosome 3
strand -1
last intron/exon boundary 1297
theoretical NMD boundary in CDS 956
length of CDS 1203
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 315
gDNA position
(for ins/del: last normal base / first normal base)		 27440
chromosomal position
(for ins/del: last normal base / first normal base)		 113890815
original gDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered gDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
original cDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered cDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
wildtype AA sequence MASLSQLSGH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLSPTI APKLSLEVRK
LSNGRLSTSL KLGPLQPRGV PLREKKATQM VAIVLGAFIV CWLPFFLTHV LNTHCQTCHV
SPELYSATTW LGYVNSALNP VIYTTFNIEF RKAFLKILSC *
mutated AA sequence MASLSQLSSH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLSPTI APKLSLEVRK
LSNGRLSTSL KLGPLQPRGV PLREKKATQM VAIVLGAFIV CWLPFFLTHV LNTHCQTCHV
SPELYSATTW LGYVNSALNP VIYTTFNIEF RKAFLKILSC *
speed 1.29 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: 0.999999755620517 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM033372)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:113890815C>TN/A show variant in all transcripts   IGV
HGNC symbol DRD3
Ensembl transcript ID ENST00000467632
Genbank transcript ID N/A
UniProt peptide P35462
alteration type single base exchange
alteration region CDS
DNA changes c.25G>A
cDNA.370G>A
g.27440G>A
AA changes G9S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs6280
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC15240228717527

known disease mutation at this position, please check HGMD for details (HGMD ID CM033372)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6190.046
0.1340.063
(flanking)0.1110.845
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased27440wt: 0.36 / mu: 0.86wt: TGAGTGGCCACCTGA
mu: TGAGTAGCCACCTGA		 AGTG|gcca
Donor marginally increased27432wt: 0.9944 / mu: 0.9952 (marginal change - not scored)wt: GAGCCAGCTGAGTGG
mu: GAGCCAGCTGAGTAG		 GCCA|gctg
Donor gained274350.88mu: CCAGCTGAGTAGCCA AGCT|gagt
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MASLSQLSGHLNYTCGAENST
mutated  not conserved    9 MASLSQLSSHLNYTCGAENSTG
Ptroglodytes  all identical  ENSPTRG00000015241  9 MAPLSQLSGHLNYTCGAENSTG
Mmulatta  all identical  ENSMMUG00000022936  9 MAPLSQLSGHLNYTCGVENSTG
Fcatus  no alignment  ENSFCAG00000009553  n/a
Mmusculus  not conserved  ENSMUSG00000022705  9 MAPLSQISSHINSTCGAENSTG
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000000584  n/a
Drerio  no alignment  ENSDARG00000032131  n/a
Dmelanogaster  no alignment  FBgn0053517  n/a
Celegans  no alignment  K09G1.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
132TOPO_DOMExtracellular (Probable).lost
1212CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
1919CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
3355TRANSMEMHelical; Name=1.might get lost (downstream of altered splice site)
3556HELIXmight get lost (downstream of altered splice site)
5665TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
6381HELIXmight get lost (downstream of altered splice site)
6688TRANSMEMHelical; Name=2.might get lost (downstream of altered splice site)
8391HELIXmight get lost (downstream of altered splice site)
89104TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
9797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
100133HELIXmight get lost (downstream of altered splice site)
103103DISULFIDmight get lost (downstream of altered splice site)
105126TRANSMEMHelical; Name=3.might get lost (downstream of altered splice site)
110110BINDINGAgonist.might get lost (downstream of altered splice site)
127149TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
135140HELIXmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
147169HELIXmight get lost (downstream of altered splice site)
150170TRANSMEMHelical; Name=4.might get lost (downstream of altered splice site)
170172TURNmight get lost (downstream of altered splice site)
171187TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
186196HELIXmight get lost (downstream of altered splice site)
188212TRANSMEMHelical; Name=5.might get lost (downstream of altered splice site)
189196REGIONAgonist binding.might get lost (downstream of altered splice site)
198216HELIXmight get lost (downstream of altered splice site)
213329TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
322353HELIXmight get lost (downstream of altered splice site)
330351TRANSMEMHelical; Name=6.might get lost (downstream of altered splice site)
342350REGIONAgonist binding.might get lost (downstream of altered splice site)
352366TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
355355DISULFIDmight get lost (downstream of altered splice site)
358358DISULFIDmight get lost (downstream of altered splice site)
362386HELIXmight get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7.might get lost (downstream of altered splice site)
388398HELIXmight get lost (downstream of altered splice site)
389400TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
396396CONFLICTK -> L (in Ref. 7; AAH95510).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1203 / 1203
position (AA) of stopcodon in wt / mu AA sequence 401 / 401
position of stopcodon in wt / mu cDNA 1548 / 1548
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 346 / 346
chromosome 3
strand -1
last intron/exon boundary 1352
theoretical NMD boundary in CDS 956
length of CDS 1203
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 370
gDNA position
(for ins/del: last normal base / first normal base)		 27440
chromosomal position
(for ins/del: last normal base / first normal base)		 113890815
original gDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered gDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
original cDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered cDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
wildtype AA sequence MASLSQLSGH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLSPTI APKLSLEVRK
LSNGRLSTSL KLGPLQPRGV PLREKKATQM VAIVLGAFIV CWLPFFLTHV LNTHCQTCHV
SPELYSATTW LGYVNSALNP VIYTTFNIEF RKAFLKILSC *
mutated AA sequence MASLSQLSSH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLSPTI APKLSLEVRK
LSNGRLSTSL KLGPLQPRGV PLREKKATQM VAIVLGAFIV CWLPFFLTHV LNTHCQTCHV
SPELYSATTW LGYVNSALNP VIYTTFNIEF RKAFLKILSC *
speed 1.24 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: 0.999999755620517 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM033372)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:113890815C>TN/A show variant in all transcripts   IGV
HGNC symbol DRD3
Ensembl transcript ID ENST00000295881
Genbank transcript ID NM_033663
UniProt peptide P35462
alteration type single base exchange
alteration region CDS
DNA changes c.25G>A
cDNA.456G>A
g.27440G>A
AA changes G9S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs6280
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC15240228717527

known disease mutation at this position, please check HGMD for details (HGMD ID CM033372)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6190.046
0.1340.063
(flanking)0.1110.845
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased27440wt: 0.36 / mu: 0.86wt: TGAGTGGCCACCTGA
mu: TGAGTAGCCACCTGA		 AGTG|gcca
Donor marginally increased27432wt: 0.9944 / mu: 0.9952 (marginal change - not scored)wt: GAGCCAGCTGAGTGG
mu: GAGCCAGCTGAGTAG		 GCCA|gctg
Donor gained274350.88mu: CCAGCTGAGTAGCCA AGCT|gagt
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MASLSQLSGHLNYTCGAENST
mutated  not conserved    9 MASLSQLSSHLNYTCGAENSTG
Ptroglodytes  all identical  ENSPTRG00000015241  9 MAPLSQLSGHLNYTCGAENSTG
Mmulatta  all identical  ENSMMUG00000022936  9 MAPLSQLSGHLNYTCGVENSTG
Fcatus  no alignment  ENSFCAG00000009553  n/a
Mmusculus  not conserved  ENSMUSG00000022705  9 MAPLSQISSHINSTCGAENSTG
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000000584  n/a
Drerio  no alignment  ENSDARG00000032131  n/a
Dmelanogaster  no alignment  FBgn0053517  n/a
Celegans  no alignment  K09G1.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
132TOPO_DOMExtracellular (Probable).lost
1212CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
1919CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
3355TRANSMEMHelical; Name=1.might get lost (downstream of altered splice site)
3556HELIXmight get lost (downstream of altered splice site)
5665TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
6381HELIXmight get lost (downstream of altered splice site)
6688TRANSMEMHelical; Name=2.might get lost (downstream of altered splice site)
8391HELIXmight get lost (downstream of altered splice site)
89104TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
9797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
100133HELIXmight get lost (downstream of altered splice site)
103103DISULFIDmight get lost (downstream of altered splice site)
105126TRANSMEMHelical; Name=3.might get lost (downstream of altered splice site)
110110BINDINGAgonist.might get lost (downstream of altered splice site)
127149TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
135140HELIXmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
147169HELIXmight get lost (downstream of altered splice site)
150170TRANSMEMHelical; Name=4.might get lost (downstream of altered splice site)
170172TURNmight get lost (downstream of altered splice site)
171187TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
186196HELIXmight get lost (downstream of altered splice site)
188212TRANSMEMHelical; Name=5.might get lost (downstream of altered splice site)
189196REGIONAgonist binding.might get lost (downstream of altered splice site)
198216HELIXmight get lost (downstream of altered splice site)
213329TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
322353HELIXmight get lost (downstream of altered splice site)
330351TRANSMEMHelical; Name=6.might get lost (downstream of altered splice site)
342350REGIONAgonist binding.might get lost (downstream of altered splice site)
352366TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
355355DISULFIDmight get lost (downstream of altered splice site)
358358DISULFIDmight get lost (downstream of altered splice site)
362386HELIXmight get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7.might get lost (downstream of altered splice site)
388398HELIXmight get lost (downstream of altered splice site)
389400TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
396396CONFLICTK -> L (in Ref. 7; AAH95510).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1104 / 1104
position (AA) of stopcodon in wt / mu AA sequence 368 / 368
position of stopcodon in wt / mu cDNA 1535 / 1535
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 432 / 432
chromosome 3
strand -1
last intron/exon boundary 1339
theoretical NMD boundary in CDS 857
length of CDS 1104
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 456
gDNA position
(for ins/del: last normal base / first normal base)		 27440
chromosomal position
(for ins/del: last normal base / first normal base)		 113890815
original gDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered gDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
original cDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered cDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
wildtype AA sequence MASLSQLSGH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLMPLR EKKATQMVAI
VLGAFIVCWL PFFLTHVLNT HCQTCHVSPE LYSATTWLGY VNSALNPVIY TTFNIEFRKA
FLKILSC*
mutated AA sequence MASLSQLSSH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLMPLR EKKATQMVAI
VLGAFIVCWL PFFLTHVLNT HCQTCHVSPE LYSATTWLGY VNSALNPVIY TTFNIEFRKA
FLKILSC*
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
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999755620517 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM033372)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr3:113890815C>TN/A show variant in all transcripts   IGV
HGNC symbol DRD3
Ensembl transcript ID ENST00000383673
Genbank transcript ID NM_000796
UniProt peptide P35462
alteration type single base exchange
alteration region CDS
DNA changes c.25G>A
cDNA.456G>A
g.27440G>A
AA changes G9S Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 9
frameshift no
known variant Reference ID: rs6280
databasehomozygous (T/T)heterozygousallele carriers
1000G---
ExAC15240228717527

known disease mutation at this position, please check HGMD for details (HGMD ID CM033372)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.6190.046
0.1340.063
(flanking)0.1110.845
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased27440wt: 0.36 / mu: 0.86wt: TGAGTGGCCACCTGA
mu: TGAGTAGCCACCTGA		 AGTG|gcca
Donor marginally increased27432wt: 0.9944 / mu: 0.9952 (marginal change - not scored)wt: GAGCCAGCTGAGTGG
mu: GAGCCAGCTGAGTAG		 GCCA|gctg
Donor gained274350.88mu: CCAGCTGAGTAGCCA AGCT|gagt
distance from splice site 60
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      9 MASLSQLSGHLNYTCGAENST
mutated  not conserved    9 MASLSQLSSHLNYTCGAENSTG
Ptroglodytes  all identical  ENSPTRG00000015241  9 MAPLSQLSGHLNYTCGAENSTG
Mmulatta  all identical  ENSMMUG00000022936  9 MAPLSQLSGHLNYTCGVENSTG
Fcatus  no alignment  ENSFCAG00000009553  n/a
Mmusculus  not conserved  ENSMUSG00000022705  9 MAPLSQISSHINSTCGAENSTG
Ggallus  no homologue    
Trubripes  no alignment  ENSTRUG00000000584  n/a
Drerio  no alignment  ENSDARG00000032131  n/a
Dmelanogaster  no alignment  FBgn0053517  n/a
Celegans  no alignment  K09G1.4  n/a
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
132TOPO_DOMExtracellular (Probable).lost
1212CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
1919CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
3355TRANSMEMHelical; Name=1.might get lost (downstream of altered splice site)
3556HELIXmight get lost (downstream of altered splice site)
5665TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
6381HELIXmight get lost (downstream of altered splice site)
6688TRANSMEMHelical; Name=2.might get lost (downstream of altered splice site)
8391HELIXmight get lost (downstream of altered splice site)
89104TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
9797CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
100133HELIXmight get lost (downstream of altered splice site)
103103DISULFIDmight get lost (downstream of altered splice site)
105126TRANSMEMHelical; Name=3.might get lost (downstream of altered splice site)
110110BINDINGAgonist.might get lost (downstream of altered splice site)
127149TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
135140HELIXmight get lost (downstream of altered splice site)
143145STRANDmight get lost (downstream of altered splice site)
147169HELIXmight get lost (downstream of altered splice site)
150170TRANSMEMHelical; Name=4.might get lost (downstream of altered splice site)
170172TURNmight get lost (downstream of altered splice site)
171187TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
173173CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
181181DISULFIDmight get lost (downstream of altered splice site)
186196HELIXmight get lost (downstream of altered splice site)
188212TRANSMEMHelical; Name=5.might get lost (downstream of altered splice site)
189196REGIONAgonist binding.might get lost (downstream of altered splice site)
198216HELIXmight get lost (downstream of altered splice site)
213329TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
322353HELIXmight get lost (downstream of altered splice site)
330351TRANSMEMHelical; Name=6.might get lost (downstream of altered splice site)
342350REGIONAgonist binding.might get lost (downstream of altered splice site)
352366TOPO_DOMExtracellular.might get lost (downstream of altered splice site)
355355DISULFIDmight get lost (downstream of altered splice site)
358358DISULFIDmight get lost (downstream of altered splice site)
362386HELIXmight get lost (downstream of altered splice site)
367388TRANSMEMHelical; Name=7.might get lost (downstream of altered splice site)
388398HELIXmight get lost (downstream of altered splice site)
389400TOPO_DOMCytoplasmic.might get lost (downstream of altered splice site)
396396CONFLICTK -> L (in Ref. 7; AAH95510).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1203 / 1203
position (AA) of stopcodon in wt / mu AA sequence 401 / 401
position of stopcodon in wt / mu cDNA 1634 / 1634
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 432 / 432
chromosome 3
strand -1
last intron/exon boundary 1438
theoretical NMD boundary in CDS 956
length of CDS 1203
coding sequence (CDS) position 25
cDNA position
(for ins/del: last normal base / first normal base)		 456
gDNA position
(for ins/del: last normal base / first normal base)		 27440
chromosomal position
(for ins/del: last normal base / first normal base)		 113890815
original gDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered gDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
original cDNA sequence snippet CATCTCTGAGCCAGCTGAGTGGCCACCTGAACTACACCTGT
altered cDNA sequence snippet CATCTCTGAGCCAGCTGAGTAGCCACCTGAACTACACCTGT
wildtype AA sequence MASLSQLSGH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLSPTI APKLSLEVRK
LSNGRLSTSL KLGPLQPRGV PLREKKATQM VAIVLGAFIV CWLPFFLTHV LNTHCQTCHV
SPELYSATTW LGYVNSALNP VIYTTFNIEF RKAFLKILSC *
mutated AA sequence MASLSQLSSH LNYTCGAENS TGASQARPHA YYALSYCALI LAIVFGNGLV CMAVLKERAL
QTTTNYLVVS LAVADLLVAT LVMPWVVYLE VTGGVWNFSR ICCDVFVTLD VMMCTASILN
LCAISIDRYT AVVMPVHYQH GTGQSSCRRV ALMITAVWVL AFAVSCPLLF GFNTTGDPTV
CSISNPDFVI YSSVVSFYLP FGVTVLVYAR IYVVLKQRRR KRILTRQNSQ CNSVRPGFPQ
QTLSPDPAHL ELKRYYSICQ DTALGGPGFQ ERGGELKREE KTRNSLSPTI APKLSLEVRK
LSNGRLSTSL KLGPLQPRGV PLREKKATQM VAIVLGAFIV CWLPFFLTHV LNTHCQTCHV
SPELYSATTW LGYVNSALNP VIYTTFNIEF RKAFLKILSC *
speed 1.22 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