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 6 transcript(s)...
Querying Taster for transcript #1: ENST00000265808
Querying Taster for transcript #2: ENST00000276373
Querying Taster for transcript #3: ENST00000519026
Querying Taster for transcript #4: ENST00000381608
Querying Taster for transcript #5: ENST00000440926
Querying Taster for transcript #6: ENST00000437980
MT speed 0 s - this script 4.366207 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SLC18A1polymorphism_automatic0.00102104731585895simple_aaeaffectedI136Tsingle base exchangers1390938show file
SLC18A1polymorphism_automatic0.00102104731585895simple_aaeaffectedI136Tsingle base exchangers1390938show file
SLC18A1polymorphism_automatic0.00102104731585895simple_aaeaffectedI136Tsingle base exchangers1390938show file
SLC18A1polymorphism_automatic0.00102104731585895simple_aaeaffectedI136Tsingle base exchangers1390938show file
SLC18A1polymorphism_automatic0.00102104731585895simple_aaeaffectedI136Tsingle base exchangers1390938show file
SLC18A1polymorphism_automatic0.00102104731585895simple_aaeaffectedI136Tsingle base exchangers1390938show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998978952684141 (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 CM067794)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:20036713A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC18A1
Ensembl transcript ID ENST00000265808
Genbank transcript ID NM_001142324
UniProt peptide P54219
alteration type single base exchange
alteration region CDS
DNA changes c.407T>C
cDNA.787T>C
g.4005T>C
AA changes I136T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1390938
databasehomozygous (G/G)heterozygousallele carriers
1000G14328632295
ExAC32644-32521123

known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.320.141
2.9340.991
(flanking)4.4271
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased4000wt: 0.63 / mu: 0.84wt: GAGGAAGAGATTACC
mu: GAGGAAGAGACTACC		 GGAA|gaga
Donor marginally increased4007wt: 0.7091 / mu: 0.7694 (marginal change - not scored)wt: AGATTACCCGGGTCG
mu: AGACTACCCGGGTCG		 ATTA|cccg
Donor increased3996wt: 0.41 / mu: 0.45wt: CTTGGAGGAAGAGAT
mu: CTTGGAGGAAGAGAC		 TGGA|ggaa
Donor increased3997wt: 0.86 / mu: 0.95wt: TTGGAGGAAGAGATT
mu: TTGGAGGAAGAGACT		 GGAG|gaag
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136CLQGTGFLEEEITRVGVLFASKAV
mutated  not conserved    136CLQGTGFLEEETTRVGVLFASKA
Ptroglodytes  not conserved  ENSPTRG00000020039  136CLQGTEFLEEENTRVGILFASKA
Mmulatta  not conserved  ENSMMUG00000019999  136CLQGTEFLEEENTRVGILFASKA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036330  133CLQGIEFLEEENVRIGILFASKA
Ggallus  not conserved  ENSGALG00000001693  138CPQGEEFLTQENMRVGLLFASKA
Trubripes  not conserved  ENSTRUG00000012619  139CLQDSLFLEEENVRVGFLFASKA
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0260964  237-ETVEVGLLFASKA
Celegans  not conserved  W01C8.6  157EEERHKLLASENVHVGLMFGSKA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
43138TOPO_DOMLumenal, vesicle (Potential).lost
139158TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
159167TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168188TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
189197TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219227TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
228250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251256TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
257279TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280299TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
300319TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320335TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
336360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387397TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
419422TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
423443TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
444448TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
449470TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
471525TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1482 / 1482
position (AA) of stopcodon in wt / mu AA sequence 494 / 494
position of stopcodon in wt / mu cDNA 1862 / 1862
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 381 / 381
chromosome 8
strand -1
last intron/exon boundary 1749
theoretical NMD boundary in CDS 1318
length of CDS 1482
coding sequence (CDS) position 407
cDNA position
(for ins/del: last normal base / first normal base)		 787
gDNA position
(for ins/del: last normal base / first normal base)		 4005
chromosomal position
(for ins/del: last normal base / first normal base)		 20036713
original gDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered gDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
original cDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered cDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
wildtype AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGLAF LPASVSYLIG TNLFGVLANK MGRWLCSLIG MLVVGTSLLC VPLAHNIFGL
IGPNAGLGLA IGMVDSSMMP IMGHLVDLRH TSVYGSVYAI ADVAFCMGFA IGPSTGGAIV
KAIGFPWLMV ITGVINIVYA PLCYYLRSPP AKEEKLAILS QDCPMETRMY ATQKPTKEFP
LGEDSDEEPD HEE*
mutated AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGLAF LPASVSYLIG TNLFGVLANK MGRWLCSLIG MLVVGTSLLC VPLAHNIFGL
IGPNAGLGLA IGMVDSSMMP IMGHLVDLRH TSVYGSVYAI ADVAFCMGFA IGPSTGGAIV
KAIGFPWLMV ITGVINIVYA PLCYYLRSPP AKEEKLAILS QDCPMETRMY ATQKPTKEFP
LGEDSDEEPD HEE*
speed 0.69 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.998978952684141 (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 CM067794)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:20036713A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC18A1
Ensembl transcript ID ENST00000276373
Genbank transcript ID NM_003053
UniProt peptide P54219
alteration type single base exchange
alteration region CDS
DNA changes c.407T>C
cDNA.674T>C
g.4005T>C
AA changes I136T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1390938
databasehomozygous (G/G)heterozygousallele carriers
1000G14328632295
ExAC32644-32521123

known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.320.141
2.9340.991
(flanking)4.4271
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased4000wt: 0.63 / mu: 0.84wt: GAGGAAGAGATTACC
mu: GAGGAAGAGACTACC		 GGAA|gaga
Donor marginally increased4007wt: 0.7091 / mu: 0.7694 (marginal change - not scored)wt: AGATTACCCGGGTCG
mu: AGACTACCCGGGTCG		 ATTA|cccg
Donor increased3996wt: 0.41 / mu: 0.45wt: CTTGGAGGAAGAGAT
mu: CTTGGAGGAAGAGAC		 TGGA|ggaa
Donor increased3997wt: 0.86 / mu: 0.95wt: TTGGAGGAAGAGATT
mu: TTGGAGGAAGAGACT		 GGAG|gaag
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136CLQGTGFLEEEITRVGVLFASKAV
mutated  not conserved    136CLQGTGFLEEETTRVGVLFASKA
Ptroglodytes  not conserved  ENSPTRG00000020039  136CLQGTEFLEEENTRVGILFASKA
Mmulatta  not conserved  ENSMMUG00000019999  136CLQGTEFLEEENTRVGILFASKA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036330  133CLQGIEFLEEENVRIGILFASKA
Ggallus  not conserved  ENSGALG00000001693  138CPQGEEFLTQENMRVGLLFASKA
Trubripes  not conserved  ENSTRUG00000012619  139CLQDSLFLEEENVRVGFLFASKA
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0260964  237-ETVEVGLLFASKA
Celegans  not conserved  W01C8.6  157EEERHKLLASENVHVGLMFGSKA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
43138TOPO_DOMLumenal, vesicle (Potential).lost
139158TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
159167TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168188TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
189197TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219227TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
228250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251256TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
257279TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280299TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
300319TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320335TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
336360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387397TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
419422TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
423443TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
444448TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
449470TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
471525TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1578 / 1578
position (AA) of stopcodon in wt / mu AA sequence 526 / 526
position of stopcodon in wt / mu cDNA 1845 / 1845
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 268 / 268
chromosome 8
strand -1
last intron/exon boundary 1732
theoretical NMD boundary in CDS 1414
length of CDS 1578
coding sequence (CDS) position 407
cDNA position
(for ins/del: last normal base / first normal base)		 674
gDNA position
(for ins/del: last normal base / first normal base)		 4005
chromosomal position
(for ins/del: last normal base / first normal base)		 20036713
original gDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered gDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
original cDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered cDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
wildtype AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGPSTGGA IVKAIGFPWL MVITGVINIV YAPLCYYLRS
PPAKEEKLAI LSQDCPMETR MYATQKPTKE FPLGEDSDEE PDHEE*
mutated AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGPSTGGA IVKAIGFPWL MVITGVINIV YAPLCYYLRS
PPAKEEKLAI LSQDCPMETR MYATQKPTKE FPLGEDSDEE PDHEE*
speed 0.88 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: 0.998978952684141 (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 CM067794)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:20036713A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC18A1
Ensembl transcript ID ENST00000519026
Genbank transcript ID N/A
UniProt peptide P54219
alteration type single base exchange
alteration region CDS
DNA changes c.407T>C
cDNA.640T>C
g.4005T>C
AA changes I136T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1390938
databasehomozygous (G/G)heterozygousallele carriers
1000G14328632295
ExAC32644-32521123

known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.320.141
2.9340.991
(flanking)4.4271
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased4000wt: 0.63 / mu: 0.84wt: GAGGAAGAGATTACC
mu: GAGGAAGAGACTACC		 GGAA|gaga
Donor marginally increased4007wt: 0.7091 / mu: 0.7694 (marginal change - not scored)wt: AGATTACCCGGGTCG
mu: AGACTACCCGGGTCG		 ATTA|cccg
Donor increased3996wt: 0.41 / mu: 0.45wt: CTTGGAGGAAGAGAT
mu: CTTGGAGGAAGAGAC		 TGGA|ggaa
Donor increased3997wt: 0.86 / mu: 0.95wt: TTGGAGGAAGAGATT
mu: TTGGAGGAAGAGACT		 GGAG|gaag
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136CLQGTGFLEEEITRVGVLFASKAV
mutated  not conserved    136CLQGTGFLEEETTRVGVLFASKA
Ptroglodytes  not conserved  ENSPTRG00000020039  136CLQGTEFLEEENTRVGILFASKA
Mmulatta  not conserved  ENSMMUG00000019999  136CLQGTEFLEEENTRVGILFASKA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036330  133CLQGIEFLEEENVRIGILFASKA
Ggallus  not conserved  ENSGALG00000001693  138CPQGEEFLTQENMRVGLLFASKA
Trubripes  not conserved  ENSTRUG00000012619  139CLQDSLFLEEENVRVGFLFASKA
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0260964  237-ETVEVGLLFASKA
Celegans  not conserved  W01C8.6  157EEERHKLLASENVHVGLMFGSKA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
43138TOPO_DOMLumenal, vesicle (Potential).lost
139158TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
159167TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168188TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
189197TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219227TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
228250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251256TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
257279TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280299TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
300319TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320335TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
336360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387397TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
419422TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
423443TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
444448TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
449470TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
471525TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1482 / 1482
position (AA) of stopcodon in wt / mu AA sequence 494 / 494
position of stopcodon in wt / mu cDNA 1715 / 1715
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 234 / 234
chromosome 8
strand -1
last intron/exon boundary 1602
theoretical NMD boundary in CDS 1318
length of CDS 1482
coding sequence (CDS) position 407
cDNA position
(for ins/del: last normal base / first normal base)		 640
gDNA position
(for ins/del: last normal base / first normal base)		 4005
chromosomal position
(for ins/del: last normal base / first normal base)		 20036713
original gDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered gDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
original cDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered cDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
wildtype AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGLAF LPASVSYLIG TNLFGVLANK MGRWLCSLIG MLVVGTSLLC VPLAHNIFGL
IGPNAGLGLA IGMVDSSMMP IMGHLVDLRH TSVYGSVYAI ADVAFCMGFA IGPSTGGAIV
KAIGFPWLMV ITGVINIVYA PLCYYLRSPP AKEEKLAILS QDCPMETRMY ATQKPTKEFP
LGEDSDEEPD HEE*
mutated AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGLAF LPASVSYLIG TNLFGVLANK MGRWLCSLIG MLVVGTSLLC VPLAHNIFGL
IGPNAGLGLA IGMVDSSMMP IMGHLVDLRH TSVYGSVYAI ADVAFCMGFA IGPSTGGAIV
KAIGFPWLMV ITGVINIVYA PLCYYLRSPP AKEEKLAILS QDCPMETRMY ATQKPTKEFP
LGEDSDEEPD HEE*
speed 0.57 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: 0.998978952684141 (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 CM067794)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:20036713A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC18A1
Ensembl transcript ID ENST00000381608
Genbank transcript ID N/A
UniProt peptide P54219
alteration type single base exchange
alteration region CDS
DNA changes c.407T>C
cDNA.407T>C
g.4005T>C
AA changes I136T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1390938
databasehomozygous (G/G)heterozygousallele carriers
1000G14328632295
ExAC32644-32521123

known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.320.141
2.9340.991
(flanking)4.4271
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased4000wt: 0.63 / mu: 0.84wt: GAGGAAGAGATTACC
mu: GAGGAAGAGACTACC		 GGAA|gaga
Donor marginally increased4007wt: 0.7091 / mu: 0.7694 (marginal change - not scored)wt: AGATTACCCGGGTCG
mu: AGACTACCCGGGTCG		 ATTA|cccg
Donor increased3996wt: 0.41 / mu: 0.45wt: CTTGGAGGAAGAGAT
mu: CTTGGAGGAAGAGAC		 TGGA|ggaa
Donor increased3997wt: 0.86 / mu: 0.95wt: TTGGAGGAAGAGATT
mu: TTGGAGGAAGAGACT		 GGAG|gaag
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136CLQGTGFLEEEITRVGVLFASKAV
mutated  not conserved    136CLQGTGFLEEETTRVGVLFASKA
Ptroglodytes  not conserved  ENSPTRG00000020039  136CLQGTEFLEEENTRVGILFASKA
Mmulatta  not conserved  ENSMMUG00000019999  136CLQGTEFLEEENTRVGILFASKA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036330  133CLQGIEFLEEENVRIGILFASKA
Ggallus  not conserved  ENSGALG00000001693  138CPQGEEFLTQENMRVGLLFASKA
Trubripes  not conserved  ENSTRUG00000012619  139CLQDSLFLEEENVRVGFLFASKA
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0260964  237-ETVEVGLLFASKA
Celegans  not conserved  W01C8.6  157EEERHKLLASENVHVGLMFGSKA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
43138TOPO_DOMLumenal, vesicle (Potential).lost
139158TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
159167TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168188TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
189197TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219227TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
228250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251256TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
257279TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280299TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
300319TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320335TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
336360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387397TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
419422TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
423443TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
444448TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
449470TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
471525TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1419 / 1419
position (AA) of stopcodon in wt / mu AA sequence 473 / 473
position of stopcodon in wt / mu cDNA 1419 / 1419
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 8
strand -1
last intron/exon boundary 1331
theoretical NMD boundary in CDS 1280
length of CDS 1419
coding sequence (CDS) position 407
cDNA position
(for ins/del: last normal base / first normal base)		 407
gDNA position
(for ins/del: last normal base / first normal base)		 4005
chromosomal position
(for ins/del: last normal base / first normal base)		 20036713
original gDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered gDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
original cDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered cDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
wildtype AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGYSESGL PHGDPDVCNP EAHEGISSGG GQ*
mutated AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGYSESGL PHGDPDVCNP EAHEGISSGG GQ*
speed 0.54 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: 0.998978952684141 (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 CM067794)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:20036713A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC18A1
Ensembl transcript ID ENST00000440926
Genbank transcript ID NM_001135691
UniProt peptide P54219
alteration type single base exchange
alteration region CDS
DNA changes c.407T>C
cDNA.878T>C
g.4005T>C
AA changes I136T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1390938
databasehomozygous (G/G)heterozygousallele carriers
1000G14328632295
ExAC32644-32521123

known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.320.141
2.9340.991
(flanking)4.4271
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased4000wt: 0.63 / mu: 0.84wt: GAGGAAGAGATTACC
mu: GAGGAAGAGACTACC		 GGAA|gaga
Donor marginally increased4007wt: 0.7091 / mu: 0.7694 (marginal change - not scored)wt: AGATTACCCGGGTCG
mu: AGACTACCCGGGTCG		 ATTA|cccg
Donor increased3996wt: 0.41 / mu: 0.45wt: CTTGGAGGAAGAGAT
mu: CTTGGAGGAAGAGAC		 TGGA|ggaa
Donor increased3997wt: 0.86 / mu: 0.95wt: TTGGAGGAAGAGATT
mu: TTGGAGGAAGAGACT		 GGAG|gaag
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136CLQGTGFLEEEITRVGVLFASKAV
mutated  not conserved    136CLQGTGFLEEETTRVGVLFASKA
Ptroglodytes  not conserved  ENSPTRG00000020039  136CLQGTEFLEEENTRVGILFASKA
Mmulatta  not conserved  ENSMMUG00000019999  136CLQGTEFLEEENTRVGILFASKA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036330  133CLQGIEFLEEENVRIGILFASKA
Ggallus  not conserved  ENSGALG00000001693  138CPQGEEFLTQENMRVGLLFASKA
Trubripes  not conserved  ENSTRUG00000012619  139CLQDSLFLEEENVRVGFLFASKA
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0260964  237-ETVEVGLLFASKA
Celegans  not conserved  W01C8.6  157EEERHKLLASENVHVGLMFGSKA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
43138TOPO_DOMLumenal, vesicle (Potential).lost
139158TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
159167TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168188TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
189197TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219227TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
228250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251256TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
257279TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280299TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
300319TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320335TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
336360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387397TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
419422TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
423443TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
444448TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
449470TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
471525TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1578 / 1578
position (AA) of stopcodon in wt / mu AA sequence 526 / 526
position of stopcodon in wt / mu cDNA 2049 / 2049
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 472 / 472
chromosome 8
strand -1
last intron/exon boundary 1936
theoretical NMD boundary in CDS 1414
length of CDS 1578
coding sequence (CDS) position 407
cDNA position
(for ins/del: last normal base / first normal base)		 878
gDNA position
(for ins/del: last normal base / first normal base)		 4005
chromosomal position
(for ins/del: last normal base / first normal base)		 20036713
original gDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered gDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
original cDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered cDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
wildtype AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGPSTGGA IVKAIGFPWL MVITGVINIV YAPLCYYLRS
PPAKEEKLAI LSQDCPMETR MYATQKPTKE FPLGEDSDEE PDHEE*
mutated AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGPSTGGA IVKAIGFPWL MVITGVINIV YAPLCYYLRS
PPAKEEKLAI LSQDCPMETR MYATQKPTKE FPLGEDSDEE PDHEE*
speed 0.59 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: 0.998978952684141 (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 CM067794)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr8:20036713A>GN/A show variant in all transcripts   IGV
HGNC symbol SLC18A1
Ensembl transcript ID ENST00000437980
Genbank transcript ID NM_001142325
UniProt peptide P54219
alteration type single base exchange
alteration region CDS
DNA changes c.407T>C
cDNA.878T>C
g.4005T>C
AA changes I136T Score: 89 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 136
frameshift no
known variant Reference ID: rs1390938
databasehomozygous (G/G)heterozygousallele carriers
1000G14328632295
ExAC32644-32521123

known disease mutation at this position, please check HGMD for details (HGMD ID CM067794)
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.320.141
2.9340.991
(flanking)4.4271
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased4000wt: 0.63 / mu: 0.84wt: GAGGAAGAGATTACC
mu: GAGGAAGAGACTACC		 GGAA|gaga
Donor marginally increased4007wt: 0.7091 / mu: 0.7694 (marginal change - not scored)wt: AGATTACCCGGGTCG
mu: AGACTACCCGGGTCG		 ATTA|cccg
Donor increased3996wt: 0.41 / mu: 0.45wt: CTTGGAGGAAGAGAT
mu: CTTGGAGGAAGAGAC		 TGGA|ggaa
Donor increased3997wt: 0.86 / mu: 0.95wt: TTGGAGGAAGAGATT
mu: TTGGAGGAAGAGACT		 GGAG|gaag
distance from splice site 82
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      136CLQGTGFLEEEITRVGVLFASKAV
mutated  not conserved    136CLQGTGFLEEETTRVGVLFASKA
Ptroglodytes  not conserved  ENSPTRG00000020039  136CLQGTEFLEEENTRVGILFASKA
Mmulatta  not conserved  ENSMMUG00000019999  136CLQGTEFLEEENTRVGILFASKA
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000036330  133CLQGIEFLEEENVRIGILFASKA
Ggallus  not conserved  ENSGALG00000001693  138CPQGEEFLTQENMRVGLLFASKA
Trubripes  not conserved  ENSTRUG00000012619  139CLQDSLFLEEENVRVGFLFASKA
Drerio  no homologue    
Dmelanogaster  not conserved  FBgn0260964  237-ETVEVGLLFASKA
Celegans  not conserved  W01C8.6  157EEERHKLLASENVHVGLMFGSKA
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
43138TOPO_DOMLumenal, vesicle (Potential).lost
139158TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
159167TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
168188TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
189197TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
198218TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
219227TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
228250TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
251256TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
257279TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
280299TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
300319TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
320335TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
336360TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
361365TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
366386TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
387397TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
419422TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
423443TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
444448TOPO_DOMLumenal, vesicle (Potential).might get lost (downstream of altered splice site)
449470TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
471525TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1419 / 1419
position (AA) of stopcodon in wt / mu AA sequence 473 / 473
position of stopcodon in wt / mu cDNA 1890 / 1890
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 472 / 472
chromosome 8
strand -1
last intron/exon boundary 1802
theoretical NMD boundary in CDS 1280
length of CDS 1419
coding sequence (CDS) position 407
cDNA position
(for ins/del: last normal base / first normal base)		 878
gDNA position
(for ins/del: last normal base / first normal base)		 4005
chromosomal position
(for ins/del: last normal base / first normal base)		 20036713
original gDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered gDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
original cDNA sequence snippet AGGTTTCTTGGAGGAAGAGATTACCCGGGTCGGGGTTCTGT
altered cDNA sequence snippet AGGTTTCTTGGAGGAAGAGACTACCCGGGTCGGGGTTCTGT
wildtype AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEEITRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGYSESGL PHGDPDVCNP EAHEGISSGG GQ*
mutated AA sequence MLRTILDAPQ RLLKEGRASR QLVLVVVFVA LLLDNMLFTV VVPIVPTFLY DMEFKEVNSS
LHLGHAGSSP HALASPAFST IFSFFNNNTV AVEESVPSGI AWMNDTASTI PPPATEAISA
HKNNCLQGTG FLEEETTRVG VLFASKAVMQ LLVNPFVGPL TNRIGYHIPM FAGFVIMFLS
TVMFAFSGTY TLLFVARTLQ GIGSSFSSVA GLGMLASVYT DDHERGRAMG TALGGLALGL
LVGAPFGSVM YEFVGKSAPF LILAFLALLD GALQLCILQP SKVSPESAKG TPLFMLLKDP
YILVAAGSIC FANMGVAILE PTLPIWMMQT MCSPKWQLGL AFLPASVSYL IGTNLFGVLA
NKMGRWLCSL IGMLVVGTSL LCVPLAHNIF GLIGPNAGLG LAIGMVDSSM MPIMGHLVDL
RHTSVYGSVY AIADVAFCMG FAIGYSESGL PHGDPDVCNP EAHEGISSGG GQ*
speed 0.82 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