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 9 transcript(s)...
Querying Taster for transcript #1: ENST00000321925
Querying Taster for transcript #2: ENST00000502059
Querying Taster for transcript #3: ENST00000415427
Querying Taster for transcript #4: ENST00000535474
Querying Taster for transcript #5: ENST00000402943
Querying Taster for transcript #6: ENST00000588179
Querying Taster for transcript #7: ENST00000589322
Querying Taster for transcript #8: ENST00000436407
Querying Taster for transcript #9: ENST00000589700
MT speed 0 s - this script 7.696708 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SLC14A1polymorphism_automatic0.907932446725199simple_aaeaffectedE44Ksingle base exchangers2298720show file
SLC14A1polymorphism_automatic0.907932446725199simple_aaeaffectedE100Ksingle base exchangers2298720show file
SLC14A1polymorphism_automatic0.907932446725199simple_aaeaffectedE44Ksingle base exchangers2298720show file
SLC14A1polymorphism_automatic0.907932446725199simple_aaeaffectedE100Ksingle base exchangers2298720show file
SLC14A1polymorphism_automatic0.907932446725199simple_aaeaffectedE44Ksingle base exchangers2298720show file
SLC14A1polymorphism_automatic1without_aaeaffectedsingle base exchangers2298720show file
SLC14A1polymorphism_automatic1without_aaeaffectedsingle base exchangers2298720show file
SLC14A1polymorphism_automatic1without_aaeaffectedsingle base exchangers2298720show file
SLC14A1polymorphism_automatic1without_aaeaffectedsingle base exchangers2298720show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0920675532748007 (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 CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000321925
Genbank transcript ID NM_001128588
UniProt peptide Q13336
alteration type single base exchange
alteration region CDS
DNA changes c.130G>A
cDNA.362G>A
g.6324G>A
AA changes E44K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 44
frameshift no
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      44KALGYVTGDMKELANQLKDKPVVL
mutated  all conserved    44KALGYVTGDMKKLANQLKDKPVV
Ptroglodytes  all identical  ENSPTRG00000009988  100KALGYVTGDMKELANQLKDKPVV
Mmulatta  all identical  ENSMMUG00000011037  44KALGYVTGDMKELANWLKDKPAV
Fcatus  all identical  ENSFCAG00000000240  44KALGYVTGDMKEFASWLKDKPQV
Mmusculus  all identical  ENSMUSG00000059336  100KVLGYVTGDMKEFANWLKDKPVV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1170 / 1170
position (AA) of stopcodon in wt / mu AA sequence 390 / 390
position of stopcodon in wt / mu cDNA 1402 / 1402
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 233 / 233
chromosome 18
strand 1
last intron/exon boundary 1229
theoretical NMD boundary in CDS 946
length of CDS 1170
coding sequence (CDS) position 130
cDNA position
(for ins/del: last normal base / first normal base)		 362
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
KMPLSKVTYP EENRIFYLQA KKRMVESPL*
mutated AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKKLANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
KMPLSKVTYP EENRIFYLQA KKRMVESPL*
speed 1.12 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: 0.0920675532748007 (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 CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000415427
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region CDS
DNA changes c.298G>A
cDNA.463G>A
g.6324G>A
AA changes E100K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100KALGYVTGDMKELANQLKDKPVVL
mutated  all conserved    100KALGYVTGDMKKLANQLKDKPVV
Ptroglodytes  all identical  ENSPTRG00000009988  100KALGYVTGDMKELANQLKDKPVV
Mmulatta  all identical  ENSMMUG00000011037  44KALGYVTGDMKELANWLKDKPAV
Fcatus  all identical  ENSFCAG00000000240  44KALGYVTGDMKEFASWLKDKPQV
Mmusculus  all identical  ENSMUSG00000059336  100KVLGYVTGDMKEFANWLKDKPVV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1338 / 1338
position (AA) of stopcodon in wt / mu AA sequence 446 / 446
position of stopcodon in wt / mu cDNA 1503 / 1503
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 166 / 166
chromosome 18
strand 1
last intron/exon boundary 1330
theoretical NMD boundary in CDS 1114
length of CDS 1338
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 463
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MNGRSLIGGA GDARHGPVWK DPFGTKAGDA ARRGIARLSL ALADGSQEQE PEEEIAMEDS
PTMVRVDSPT MVRGENQVSP CQGRRCFPKA LGYVTGDMKE LANQLKDKPV VLQFIDWILR
GISQVVFVNN PVSGILILVG LLVQNPWWAL TGWLGTVVST LMALLLSQDR SLIASGLYGY
NATLVGVLMA VFSDKGDYFW WLLLPVCAMS MTCPIFSSAL NSMLSKWDLP VFTLPFNMAL
SMYLSATGHY NPFFPAKLVI PITTAPNISW SDLSALELLK SIPVGVGQIY GCDNPWTGGI
FLGAILLSSP LMCLHAAIGS LLGIAAGLSL SAPFEDIYFG LWGFNSSLAC IAMGGMFMAL
TWQTHLLALG CALFTAYLGV GMANFMAEVG LPACTWPFCL ATLLFLIMTT KNSNIYKMPL
SKVTYPEENR IFYLQAKKRM VESPL*
mutated AA sequence MNGRSLIGGA GDARHGPVWK DPFGTKAGDA ARRGIARLSL ALADGSQEQE PEEEIAMEDS
PTMVRVDSPT MVRGENQVSP CQGRRCFPKA LGYVTGDMKK LANQLKDKPV VLQFIDWILR
GISQVVFVNN PVSGILILVG LLVQNPWWAL TGWLGTVVST LMALLLSQDR SLIASGLYGY
NATLVGVLMA VFSDKGDYFW WLLLPVCAMS MTCPIFSSAL NSMLSKWDLP VFTLPFNMAL
SMYLSATGHY NPFFPAKLVI PITTAPNISW SDLSALELLK SIPVGVGQIY GCDNPWTGGI
FLGAILLSSP LMCLHAAIGS LLGIAAGLSL SAPFEDIYFG LWGFNSSLAC IAMGGMFMAL
TWQTHLLALG CALFTAYLGV GMANFMAEVG LPACTWPFCL ATLLFLIMTT KNSNIYKMPL
SKVTYPEENR IFYLQAKKRM VESPL*
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: 0.0920675532748007 (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 CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000589322
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region CDS
DNA changes c.130G>A
cDNA.288G>A
g.6324G>A
AA changes E44K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 44
frameshift no
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      44KALGYVTGDMKELANQLKDKPVVL
mutated  all conserved    44KALGYVTGDMKKLANQLKDKPVV
Ptroglodytes  all identical  ENSPTRG00000009988  100KALGYVTGDMKELANQLKDKPVV
Mmulatta  all identical  ENSMMUG00000011037  44KALGYVTGDMKELANWLKDKPAV
Fcatus  all identical  ENSFCAG00000000240  44KALGYVTGDMKEFASWLKDKPQV
Mmusculus  all identical  ENSMUSG00000059336  100KVLGYVTGDMKEFANWLKDKPVV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1170 / 1170
position (AA) of stopcodon in wt / mu AA sequence 390 / 390
position of stopcodon in wt / mu cDNA 1328 / 1328
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 159 / 159
chromosome 18
strand 1
last intron/exon boundary 1155
theoretical NMD boundary in CDS 946
length of CDS 1170
coding sequence (CDS) position 130
cDNA position
(for ins/del: last normal base / first normal base)		 288
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
KMPLSKVTYP EENRIFYLQA KKRMVESPL*
mutated AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKKLANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
KMPLSKVTYP EENRIFYLQA KKRMVESPL*
speed 1.23 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0920675532748008 (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 CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000436407
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region CDS
DNA changes c.298G>A
cDNA.845G>A
g.6324G>A
AA changes E100K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100KALGYVTGDMKELANQLKDKPVVL
mutated  all conserved    100KALGYVTGDMKKLANQLKDKPVV
Ptroglodytes  all identical  ENSPTRG00000009988  100KALGYVTGDMKELANQLKDKPVV
Mmulatta  all identical  ENSMMUG00000011037  44KALGYVTGDMKELANWLKDKPAV
Fcatus  all identical  ENSFCAG00000000240  44KALGYVTGDMKEFASWLKDKPQV
Mmusculus  all identical  ENSMUSG00000059336  100KVLGYVTGDMKEFANWLKDKPVV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1338 / 1338
position (AA) of stopcodon in wt / mu AA sequence 446 / 446
position of stopcodon in wt / mu cDNA 1885 / 1885
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 548 / 548
chromosome 18
strand 1
last intron/exon boundary 1712
theoretical NMD boundary in CDS 1114
length of CDS 1338
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 845
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MNGRSLIGGA GDARHGPVWK DPFGTKAGDA ARRGIARLSL ALADGSQEQE PEEEIAMEDS
PTMVRVDSPT MVRGENQVSP CQGRRCFPKA LGYVTGDMKE LANQLKDKPV VLQFIDWILR
GISQVVFVNN PVSGILILVG LLVQNPWWAL TGWLGTVVST LMALLLSQDR SLIASGLYGY
NATLVGVLMA VFSDKGDYFW WLLLPVCAMS MTCPIFSSAL NSMLSKWDLP VFTLPFNMAL
SMYLSATGHY NPFFPAKLVI PITTAPNISW SDLSALELLK SIPVGVGQIY GCDNPWTGGI
FLGAILLSSP LMCLHAAIGS LLGIAAGLSL SAPFEDIYFG LWGFNSSLAC IAMGGMFMAL
TWQTHLLALG CALFTAYLGV GMANFMAEVG LPACTWPFCL ATLLFLIMTT KNSNIYKMPL
SKVTYPEENR IFYLQAKKRM VESPL*
mutated AA sequence MNGRSLIGGA GDARHGPVWK DPFGTKAGDA ARRGIARLSL ALADGSQEQE PEEEIAMEDS
PTMVRVDSPT MVRGENQVSP CQGRRCFPKA LGYVTGDMKK LANQLKDKPV VLQFIDWILR
GISQVVFVNN PVSGILILVG LLVQNPWWAL TGWLGTVVST LMALLLSQDR SLIASGLYGY
NATLVGVLMA VFSDKGDYFW WLLLPVCAMS MTCPIFSSAL NSMLSKWDLP VFTLPFNMAL
SMYLSATGHY NPFFPAKLVI PITTAPNISW SDLSALELLK SIPVGVGQIY GCDNPWTGGI
FLGAILLSSP LMCLHAAIGS LLGIAAGLSL SAPFEDIYFG LWGFNSSLAC IAMGGMFMAL
TWQTHLLALG CALFTAYLGV GMANFMAEVG LPACTWPFCL ATLLFLIMTT KNSNIYKMPL
SKVTYPEENR IFYLQAKKRM VESPL*
speed 1.01 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: 0.0920675532748007 (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 CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000589700
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region CDS
DNA changes c.130G>A
cDNA.130G>A
g.6324G>A
AA changes E44K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 44
frameshift no
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      44KALGYVTGDMKELANQLKDKPVVL
mutated  all conserved    44KALGYVTGDMKKLANQLKDKPVV
Ptroglodytes  all identical  ENSPTRG00000009988  100KALGYVTGDMKELANQLKDKPVV
Mmulatta  all identical  ENSMMUG00000011037  44KALGYVTGDMKELANWLKDKPAV
Fcatus  all identical  ENSFCAG00000000240  44KALGYVTGDMKEFASWLKDKPQV
Mmusculus  all identical  ENSMUSG00000059336  100KVLGYVTGDMKEFANWLKDKPVV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 909 / 909
position (AA) of stopcodon in wt / mu AA sequence 303 / 303
position of stopcodon in wt / mu cDNA 909 / 909
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 1 / 1
chromosome 18
strand 1
last intron/exon boundary 849
theoretical NMD boundary in CDS 798
length of CDS 909
coding sequence (CDS) position 130
cDNA position
(for ins/del: last normal base / first normal base)		 130
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL EDSVFQPHLR TSTLDSGVST
ALWPALQWEE CSWRSPGKPT SWLLAVPCSR PILESAWQTL WLRLDCQLVP GPSVWPRYCS
SS*
mutated AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKKLANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL EDSVFQPHLR TSTLDSGVST
ALWPALQWEE CSWRSPGKPT SWLLAVPCSR PILESAWQTL WLRLDCQLVP GPSVWPRYCS
SS*
speed 1.18 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: 2.02165887326509e-21 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000502059
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region intron
DNA changes g.6324G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 3032
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 301 / 301
chromosome 18
strand 1
last intron/exon boundary 973
theoretical NMD boundary in CDS 622
length of CDS 846
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGRRNRSLIA SGLYGYNATL VGVLMAVFSD KGDYFWWLLL PVCAMSMTCP IFSSALNSML
SKWDLPVFTL PFNMALSMYL SATGHYNPFF PAKLVIPITT APNISWSDLS ALELLKSIPV
GVGQIYGCDN PWTGGIFLGA ILLSSPLMCL HAAIGSLLGI AAGLSLSAPF EDIYFGLWGF
NSSLACIAMG GMFMALTWQT HLLALGCALF TAYLGVGMAN FMAEVGLPAC TWPFCLATLL
FLIMTTKNSN IYKMPLSKVT YPEENRIFYL QAKKRMVESP L*
mutated AA sequence N/A
speed 0.85 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: 2.02165887326509e-21 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000535474
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region intron
DNA changes g.6324G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -17) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 3824
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 210 / 210
chromosome 18
strand 1
last intron/exon boundary 810
theoretical NMD boundary in CDS 550
length of CDS 774
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MAVFSDKGDY FWWLLLPVCA MSMTCPIFSS ALNSMLSKWD LPVFTLPFNM ALSMYLSATG
HYNPFFPAKL VIPITTAPNI SWSDLSALEL LKSIPVGVGQ IYGCDNPWTG GIFLGAILLS
SPLMCLHAAI GSLLGIAAGL SLSAPFEDIY FGLWGFNSSL ACIAMGGMFM ALTWQTHLLA
LGCALFTAYL GVGMANFMAE VGLPACTWPF CLATLLFLIM TTKNSNIYKM PLSKVTYPEE
NRIFYLQAKK RMVESPL*
mutated AA sequence N/A
speed 0.89 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: 2.02165887326509e-21 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000402943
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region intron
DNA changes g.6324G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -54) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 565
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 319 / 319
chromosome 18
strand 1
last intron/exon boundary 1000
theoretical NMD boundary in CDS 631
length of CDS 855
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MALLLSQDRS LIASGLYGYN ATLVGVLMAV FSDKGDYFWW LLLPVCAMSM TCPIFSSALN
SMLSKWDLPV FTLPFNMALS MYLSATGHYN PFFPAKLVIP ITTAPNISWS DLSALELLKS
IPVGVGQIYG CDNPWTGGIF LGAILLSSPL MCLHAAIGSL LGIAAGLSLS APFEDIYFGL
WGFNSSLACI AMGGMFMALT WQTHLLALGC ALFTAYLGVG MANFMAEVGL PACTWPFCLA
TLLFLIMTTK NSNIYKMPLS KVTYPEENRI FYLQAKKRMV ESPL*
mutated AA sequence N/A
speed 0.94 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: without_aae, prob: 1.18709729676046e-22 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000588179
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region 5'UTR
DNA changes cDNA.451G>A
g.6324G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -108) |
effectgDNA positionscoredetection sequence  exon-intron border
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
distance from splice site 22
Kozak consensus sequence altered? no
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
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 771 / 771
chromosome 18
strand 1
last intron/exon boundary 1125
theoretical NMD boundary in CDS 304
length of CDS 528
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 451
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MCYVHDLLLK SIPVGVGQIY GCDNPWTGGI FLGAILLSSP LMCLHAAIGS LLGIAAGLSL
SAPFEDIYFG LWGFNSSLAC IAMGGMFMAL TWQTHLLALG CALFTAYLGV GMANFMAEVG
LPACTWPFCL ATLLFLIMTT KNSNIYKMPL SKVTYPEENR IFYLQAKKRM VESPL*
mutated AA sequence N/A
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
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Problems