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 3 transcript(s)...
Querying Taster for transcript #1: ENST00000397060
Querying Taster for transcript #2: ENST00000361703
Querying Taster for transcript #3: ENST00000360657
MT speed 0 s - this script 5.393563 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SLC17A3polymorphism_automatic3.8702374638433e-13simple_aaeaffectedA100Tsingle base exchangers1165165show file
SLC17A3polymorphism_automatic3.8702374638433e-13simple_aaeaffectedA100Tsingle base exchangers1165165show file
SLC17A3polymorphism_automatic3.45670159163092e-11simple_aaeaffectedA100Tsingle base exchangers1165165show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999613 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:25862466C>TN/A show variant in all transcripts   IGV
HGNC symbol SLC17A3
Ensembl transcript ID ENST00000361703
Genbank transcript ID NM_006632
UniProt peptide O00476
alteration type single base exchange
alteration region CDS
DNA changes c.298G>A
cDNA.377G>A
g.20049G>A
AA changes A100T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs1165165
databasehomozygous (T/T)heterozygousallele carriers
1000G139806945
ExAC27822005422836
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1120.004
0.6650.012
(flanking)0.7820.014
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased20049wt: 0.76 / mu: 0.88wt: TTCCTGCAAAGGTAA
mu: TTCCTACAAAGGTAA		 CCTG|caaa
Acc gained200520.39mu: CCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGATAT acaa|AGGT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100GGLSKAPKSLPAKSSILGGQFAIW
mutated  not conserved    100GGLSKAPKSLPTKSSILGGQFAI
Ptroglodytes  all conserved  ENSPTRG00000017793  178SQSSILGGQFAI
Mmulatta  all identical  ENSMMUG00000002583  100GNLNKAPESLSAKCSVIGGQFAI
Fcatus  all identical  ENSFCAG00000014671  100GGSNDAPNSLPAEXXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000036083  100GDQHEASKHLPIKAPVYN-----
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000086739  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
126146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
154174TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
179179CONFLICTV -> F (in Ref. 1; AAB53423).might get lost (downstream of altered splice site)
218238TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
256276TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
292314TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
319341TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
357377TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
385405TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1263 / 1263
position (AA) of stopcodon in wt / mu AA sequence 421 / 421
position of stopcodon in wt / mu cDNA 1342 / 1342
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 80 / 80
chromosome 6
strand -1
last intron/exon boundary 1345
theoretical NMD boundary in CDS 1215
length of CDS 1263
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 377
gDNA position
(for ins/del: last normal base / first normal base)		 20049
chromosomal position
(for ins/del: last normal base / first normal base)		 25862466
original gDNA sequence snippet AAGCCCCAAAGAGTCTTCCTGCAAAGGTAAGCAACATAAGA
altered gDNA sequence snippet AAGCCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGA
original cDNA sequence snippet AAGCCCCAAAGAGTCTTCCTGCAAAGTCCTCAATACTTGGG
altered cDNA sequence snippet AAGCCCCAAAGAGTCTTCCTACAAAGTCCTCAATACTTGGG
wildtype AA sequence MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPA KSSILGGQFA IWEKWGPPQE
RSRLCSIALS GMLLGCFTAI LIGGFISETL GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS
YPWISTSEKE YIISSLKQQV GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP
TYISSVYHVN IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF LMGASRGFSS
IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY LIFGEADVQE WAKERKLTRL
*
mutated AA sequence MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPT KSSILGGQFA IWEKWGPPQE
RSRLCSIALS GMLLGCFTAI LIGGFISETL GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS
YPWISTSEKE YIISSLKQQV GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP
TYISSVYHVN IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF LMGASRGFSS
IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY LIFGEADVQE WAKERKLTRL
*
speed 1.34 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
back to results table
Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999613 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:25862466C>TN/A show variant in all transcripts   IGV
HGNC symbol SLC17A3
Ensembl transcript ID ENST00000360657
Genbank transcript ID N/A
UniProt peptide O00476
alteration type single base exchange
alteration region CDS
DNA changes c.298G>A
cDNA.584G>A
g.20049G>A
AA changes A100T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs1165165
databasehomozygous (T/T)heterozygousallele carriers
1000G139806945
ExAC27822005422836
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1120.004
0.6650.012
(flanking)0.7820.014
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased20049wt: 0.76 / mu: 0.88wt: TTCCTGCAAAGGTAA
mu: TTCCTACAAAGGTAA		 CCTG|caaa
Acc gained200520.39mu: CCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGATAT acaa|AGGT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100GGLSKAPKSLPAKSSILGGQFAIW
mutated  not conserved    100GGLSKAPKSLPTKSSILGGQFAI
Ptroglodytes  all conserved  ENSPTRG00000017793  178SQSSILGGQFAI
Mmulatta  all identical  ENSMMUG00000002583  100GNLNKAPESLSAKCSVIGGQFAI
Fcatus  all identical  ENSFCAG00000014671  100GGSNDAPNSLPAEXXXXXXXXXX
Mmusculus  not conserved  ENSMUSG00000036083  100GDQHEASKHLPIKAPVYN-----
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000086739  n/a
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
126146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
154174TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
179179CONFLICTV -> F (in Ref. 1; AAB53423).might get lost (downstream of altered splice site)
218238TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
256276TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
292314TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
319341TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
357377TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
385405TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1263 / 1263
position (AA) of stopcodon in wt / mu AA sequence 421 / 421
position of stopcodon in wt / mu cDNA 1549 / 1549
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 287 / 287
chromosome 6
strand -1
last intron/exon boundary 1552
theoretical NMD boundary in CDS 1215
length of CDS 1263
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 584
gDNA position
(for ins/del: last normal base / first normal base)		 20049
chromosomal position
(for ins/del: last normal base / first normal base)		 25862466
original gDNA sequence snippet AAGCCCCAAAGAGTCTTCCTGCAAAGGTAAGCAACATAAGA
altered gDNA sequence snippet AAGCCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGA
original cDNA sequence snippet AAGCCCCAAAGAGTCTTCCTGCAAAGTCCTCAATACTTGGG
altered cDNA sequence snippet AAGCCCCAAAGAGTCTTCCTACAAAGTCCTCAATACTTGGG
wildtype AA sequence MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPA KSSILGGQFA IWEKWGPPQE
RSRLCSIALS GMLLGCFTAI LIGGFISETL GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS
YPWISTSEKE YIISSLKQQV GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP
TYISSVYHVN IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF LMGASRGFSS
IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY LIFGEADVQE WAKERKLTRL
*
mutated AA sequence MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPT KSSILGGQFA IWEKWGPPQE
RSRLCSIALS GMLLGCFTAI LIGGFISETL GWPFVFYIFG GVGCVCCLLW FVVIYDDPVS
YPWISTSEKE YIISSLKQQV GSSKQPLPIK AMLRSLPIWS ICLGCFSHQW LVSTMVVYIP
TYISSVYHVN IRDNGLLSAL PFIVAWVIGM VGGYLADFLL TKKFRLITVR KIATILGSLP
SSALIVSLPY LNSGYITATA LLTLSCGLST LCQSGIYINV LDIAPRYSSF LMGASRGFSS
IAPVIVPTVS GFLLSQDPEF GWRNVFFLLF AVNLLGLLFY LIFGEADVQE WAKERKLTRL
*
speed 1.37 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: 0.999999999965433 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:25862466C>TN/A show variant in all transcripts   IGV
HGNC symbol SLC17A3
Ensembl transcript ID ENST00000397060
Genbank transcript ID NM_001098486
UniProt peptide O00476
alteration type single base exchange
alteration region CDS
DNA changes c.298G>A
cDNA.408G>A
g.20049G>A
AA changes A100T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 100
frameshift no
known variant Reference ID: rs1165165
databasehomozygous (T/T)heterozygousallele carriers
1000G139806945
ExAC27822005422836
regulatory features N/A
phyloP / phastCons
PhyloPPhastCons
(flanking)0.1120.004
0.6650.012
(flanking)0.7820.014
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased20049wt: 0.76 / mu: 0.88wt: TTCCTGCAAAGGTAA
mu: TTCCTACAAAGGTAA		 CCTG|caaa
Acc gained200520.39mu: CCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGATAT acaa|AGGT
distance from splice site 6
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      100GGLSKAPKSLPAKAPVYDWSPQIQ
mutated  not conserved    100GGLSKAPKSLPTKAPVYDWSPQI
Ptroglodytes  all identical  ENSPTRG00000017793  100GGLSKAPKSLPAKAPVYDWSPQI
Mmulatta  all identical  ENSMMUG00000002583  100GNLNKAPESLSAKCSVIGGQFAIWEKWGPPH
Fcatus  all identical  ENSFCAG00000014671  100GGSNDAPNSLPAE
Mmusculus  not conserved  ENSMUSG00000036083  100GDQHEASKHLPIKAPVYNWSPQT
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086739  103AHNNNSQSSEQPEGIPRYPWNSET
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
126146TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
154174TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
179179CONFLICTV -> F (in Ref. 1; AAB53423).might get lost (downstream of altered splice site)
218238TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
256276TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
292314TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
319341TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
357377TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
385405TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1497 / 1497
position (AA) of stopcodon in wt / mu AA sequence 499 / 499
position of stopcodon in wt / mu cDNA 1607 / 1607
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 111 / 111
chromosome 6
strand -1
last intron/exon boundary 1610
theoretical NMD boundary in CDS 1449
length of CDS 1497
coding sequence (CDS) position 298
cDNA position
(for ins/del: last normal base / first normal base)		 408
gDNA position
(for ins/del: last normal base / first normal base)		 20049
chromosomal position
(for ins/del: last normal base / first normal base)		 25862466
original gDNA sequence snippet AAGCCCCAAAGAGTCTTCCTGCAAAGGTAAGCAACATAAGA
altered gDNA sequence snippet AAGCCCCAAAGAGTCTTCCTACAAAGGTAAGCAACATAAGA
original cDNA sequence snippet AAGCCCCAAAGAGTCTTCCTGCAAAGGCTCCTGTGTATGAC
altered cDNA sequence snippet AAGCCCCAAAGAGTCTTCCTACAAAGGCTCCTGTGTATGAC
wildtype AA sequence MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPA KAPVYDWSPQ IQGIIFGAVG
YGGILTMAPS GYLAGRVGTK RVVGISLFAT SFLTLCIPLA TDFGIVLLIV TRIVQGLSQS
SILGGQFAIW EKWGPPQERS RLCSIALSGM LLGCFTAILI GGFISETLGW PFVFYIFGGV
GCVCCLLWFV VIYDDPVSYP WISTSEKEYI ISSLKQQVGS SKQPLPIKAM LRSLPIWSIC
LGCFSHQWLV STMVVYIPTY ISSVYHVNIR DNGLLSALPF IVAWVIGMVG GYLADFLLTK
KFRLITVRKI ATILGSLPSS ALIVSLPYLN SGYITATALL TLSCGLSTLC QSGIYINVLD
IAPRYSSFLM GASRGFSSIA PVIVPTVSGF LLSQDPEFGW RNVFFLLFAV NLLGLLFYLI
FGEADVQEWA KERKLTRL*
mutated AA sequence MATKTELSPT ARESKNAQDM QVDETLIPRK VPSLCSARYG IALVLHFCNF TTIAQNVIMN
ITMVAMVNST SPQSQLNDSS EVLPVDSFGG LSKAPKSLPT KAPVYDWSPQ IQGIIFGAVG
YGGILTMAPS GYLAGRVGTK RVVGISLFAT SFLTLCIPLA TDFGIVLLIV TRIVQGLSQS
SILGGQFAIW EKWGPPQERS RLCSIALSGM LLGCFTAILI GGFISETLGW PFVFYIFGGV
GCVCCLLWFV VIYDDPVSYP WISTSEKEYI ISSLKQQVGS SKQPLPIKAM LRSLPIWSIC
LGCFSHQWLV STMVVYIPTY ISSVYHVNIR DNGLLSALPF IVAWVIGMVG GYLADFLLTK
KFRLITVRKI ATILGSLPSS ALIVSLPYLN SGYITATALL TLSCGLSTLC QSGIYINVLD
IAPRYSSFLM GASRGFSSIA PVIVPTVSGF LLSQDPEFGW RNVFFLLFAV NLLGLLFYLI
FGEADVQEWA KERKLTRL*
speed 1.20 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

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