Yum, tasty mutations...

MutationTaster - study a chromosomal position

 MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 4 transcript(s)...
Querying Taster for transcript #1: ENST00000515425
Querying Taster for transcript #2: ENST00000512049
Querying Taster for transcript #3: ENST00000538184
Querying Taster for transcript #4: ENST00000394358
MT speed 0 s - this script 3.975895 s

Results

genesymbolpredictionprobabilitymodelprediction
problem		splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
SH3TC2polymorphism_automatic2.06926139556529e-08simple_aaeaffectedA468Ssingle base exchangers6875902show file
SH3TC2polymorphism_automatic2.06926139556529e-08simple_aaeaffectedA461Ssingle base exchangers6875902show file
SH3TC2polymorphism_automatic2.06926139556529e-08simple_aaeaffectedA15Ssingle base exchangers6875902show file
SH3TC2polymorphism_automatic2.06926139556529e-08simple_aaeaffectedA353Ssingle base exchangers6875902show file

Taster files

Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999979307386 (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) chr5:148407893C>AN/A show variant in all transcripts   IGV
HGNC symbol SH3TC2
Ensembl transcript ID ENST00000515425
Genbank transcript ID NM_024577
UniProt peptide Q8TF17
alteration type single base exchange
alteration region CDS
DNA changes c.1402G>T
cDNA.1504G>T
g.34834G>T
AA changes A468S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 468
frameshift no
known variant Reference ID: rs6875902
databasehomozygous (A/A)heterozygousallele carriers
1000G126731857
ExAC27391891121650
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1130.272
0.1250.205
(flanking)-0.0850.213
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased34843wt: 0.48 / mu: 0.80wt: CTGAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAG
mu: CTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAG		 atat|TGGC
Acc increased34845wt: 0.62 / mu: 0.86wt: GAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAGGG
mu: GAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAGGG		 attg|GCTT
Acc gained348410.57mu: GGCTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATG ccat|ATTG
distance from splice site 225
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      468STGQEEEAENFAPILAFLDHEGYA
mutated  all conserved    468STGQEEEAENFSPILAFLDHEGY
Ptroglodytes  all identical  ENSPTRG00000017392  468STGQEEEAENFAPILAFLDHEGY
Mmulatta  not conserved  ENSMMUG00000019820  468STDQEEEAENFTPILAFLDHEGY
Fcatus  all identical  ENSFCAG00000007955  469NTGQEEEEAENFAPMLAFLDHKGY
Mmusculus  all identical  ENSMUSG00000045629  467STSLEEDDVEHFAPILAFLDHEG
Ggallus  no alignment  ENSGALG00000002806  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089917  470GIWETEEAERCDPILTLLNLEYF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
528561REPEATTPR 1.might get lost (downstream of altered splice site)
757790REPEATTPR 2.might get lost (downstream of altered splice site)
836869REPEATTPR 3.might get lost (downstream of altered splice site)
10011037REPEATTPR 4.might get lost (downstream of altered splice site)
10841118REPEATTPR 5.might get lost (downstream of altered splice site)
11191152REPEATTPR 6.might get lost (downstream of altered splice site)
11581158CONFLICTV -> I (in Ref. 6; BAB85571).might get lost (downstream of altered splice site)
11661199REPEATTPR 7.might get lost (downstream of altered splice site)
12101244REPEATTPR 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3867 / 3867
position (AA) of stopcodon in wt / mu AA sequence 1289 / 1289
position of stopcodon in wt / mu cDNA 3969 / 3969
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 103 / 103
chromosome 5
strand -1
last intron/exon boundary 3778
theoretical NMD boundary in CDS 3625
length of CDS 3867
coding sequence (CDS) position 1402
cDNA position
(for ins/del: last normal base / first normal base)		 1504
gDNA position
(for ins/del: last normal base / first normal base)		 34834
chromosomal position
(for ins/del: last normal base / first normal base)		 148407893
original gDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered gDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
original cDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered cDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
wildtype AA sequence MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS
RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW
KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL VEDTEIQVSV DDKHLETIYL GLLIQEGHFF
CRALCSVTPP AEKEGECLTL CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL
PFHQWFLKNY PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF
VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL ALGSDKQTEC
SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK EVRPGRAWEE HQAVGSRQSS
SSEDSSLEEE LLSATSDSYR LPEPDDLDDP ELLMDLSTGQ EEEAENFAPI LAFLDHEGYA
DHFKSLYDFS FSFLTSSFYS FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR
KVKLSQARVY FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA
CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE EVLPFAERLQ
LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS AQGMSLPIWQ VHLVLQNTTK
LLGFPSPGWG EVSALACPML RQALAACEEL ADRSTQRALC LILSKVYLEH RSPDGAIHYL
SQALVLGQLL GEQESFESSL CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN
LLGLALQGEG RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL
QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG LRHRHLKSQL
QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME GRLLESLGQL YRNLNTARSL
RRSLTCIKES LRIFIDLGET DKAAEAWLGA GRLHYLMQED ELVELCLQAA IQTALKSEEP
LLALKLYEEA GDVFFNGTRH RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE
GYEKALEFAT LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL
QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ DTIRSRLDNI
CQSPLWHSRP SGCSSERARW LSGGGLAL*
mutated AA sequence MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS
RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW
KFSTYLNLGY VSMCLEHLLF DHKYWLNCIL VEDTEIQVSV DDKHLETIYL GLLIQEGHFF
CRALCSVTPP AEKEGECLTL CKNELISVKM AEAGSELEGV SLVTGQRGLV LVSALEPLPL
PFHQWFLKNY PGSCGLSRKR DWTGSYQIGR GRCKALTGYE PGEKDELNFY QGESIEIIGF
VIPGLQWFIG KSTSSGQVGF VPTRNIDPDS YSPMSRNSAF LSDEERCSLL ALGSDKQTEC
SSFLHTLART DITSVYRLSG FESIQNPPND LSASQPEGFK EVRPGRAWEE HQAVGSRQSS
SSEDSSLEEE LLSATSDSYR LPEPDDLDDP ELLMDLSTGQ EEEAENFSPI LAFLDHEGYA
DHFKSLYDFS FSFLTSSFYS FSEEDEFVAY LEASRKWAKK SHMTWAHARL CFLLGRLSIR
KVKLSQARVY FEEAIHILNG AFEDLSLVAT LYINLAAIYL KQRLRHKGSA LLEKAGALLA
CLPDRESSAK HELDVVAYVL RQGIVVGSSP LEARACFLAI RLLLSLGRHE EVLPFAERLQ
LLSGHPPASE AVASVLSFLY DKKYLPHLAV ASVQQHGIQS AQGMSLPIWQ VHLVLQNTTK
LLGFPSPGWG EVSALACPML RQALAACEEL ADRSTQRALC LILSKVYLEH RSPDGAIHYL
SQALVLGQLL GEQESFESSL CLAWAYLLAS QAKKALDVLE PLLCSLKETE SLTQRGVIYN
LLGLALQGEG RVNRAAKSYL RALNRAQEVG DVHNQAVAMA NLGHLSLKSW AQHPARNYLL
QAVRLYCELQ ASKETDMELV QVFLWLAQVL VSGHQLTHGL LCYEMALLFG LRHRHLKSQL
QATKSLCHFY SSVSPNPEAC ITYHEHWLAL AQQLRDREME GRLLESLGQL YRNLNTARSL
RRSLTCIKES LRIFIDLGET DKAAEAWLGA GRLHYLMQED ELVELCLQAA IQTALKSEEP
LLALKLYEEA GDVFFNGTRH RHHAVEYYRA GAVPLARRLK AVRTELRIFN KLTELQISLE
GYEKALEFAT LAARLSTVTG DQRQELVAFH RLATVYYSLH MYEMAEDCYL KTLSLCPPWL
QSPKEALYYA KVYYRLGRLT FCQLKDAHDA TEYFLLALAA AVLLGDEELQ DTIRSRLDNI
CQSPLWHSRP SGCSSERARW LSGGGLAL*
speed 0.79 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: 0.999999979307386 (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) chr5:148407893C>AN/A show variant in all transcripts   IGV
HGNC symbol SH3TC2
Ensembl transcript ID ENST00000512049
Genbank transcript ID N/A
UniProt peptide Q8TF17
alteration type single base exchange
alteration region CDS
DNA changes c.1381G>T
cDNA.1448G>T
g.34834G>T
AA changes A461S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 461
frameshift no
known variant Reference ID: rs6875902
databasehomozygous (A/A)heterozygousallele carriers
1000G126731857
ExAC27391891121650
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1130.272
0.1250.205
(flanking)-0.0850.213
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased34843wt: 0.48 / mu: 0.80wt: CTGAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAG
mu: CTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAG		 atat|TGGC
Acc increased34845wt: 0.62 / mu: 0.86wt: GAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAGGG
mu: GAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAGGG		 attg|GCTT
Acc gained348410.57mu: GGCTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATG ccat|ATTG
distance from splice site 225
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      461STGQEEEAENFAPILAFLDHEGYA
mutated  all conserved    461STGQEEEAENFSPILAFLDHEGY
Ptroglodytes  all identical  ENSPTRG00000017392  468STGQEEEAENFAPILAFLDHEGY
Mmulatta  not conserved  ENSMMUG00000019820  468STDQEEEAENFTPILAFLDHEGY
Fcatus  all identical  ENSFCAG00000007955  469NTGQEEEEAENFAPMLAFLDHKGY
Mmusculus  all identical  ENSMUSG00000045629  467STSLEEDDVEHFAPILAFLDHEG
Ggallus  no alignment  ENSGALG00000002806  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089917  470GIWETEEAERCDPILTLLNLEYF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
528561REPEATTPR 1.might get lost (downstream of altered splice site)
757790REPEATTPR 2.might get lost (downstream of altered splice site)
836869REPEATTPR 3.might get lost (downstream of altered splice site)
10011037REPEATTPR 4.might get lost (downstream of altered splice site)
10841118REPEATTPR 5.might get lost (downstream of altered splice site)
11191152REPEATTPR 6.might get lost (downstream of altered splice site)
11581158CONFLICTV -> I (in Ref. 6; BAB85571).might get lost (downstream of altered splice site)
11661199REPEATTPR 7.might get lost (downstream of altered splice site)
12101244REPEATTPR 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 3846 / 3846
position (AA) of stopcodon in wt / mu AA sequence 1282 / 1282
position of stopcodon in wt / mu cDNA 3913 / 3913
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 68 / 68
chromosome 5
strand -1
last intron/exon boundary 3722
theoretical NMD boundary in CDS 3604
length of CDS 3846
coding sequence (CDS) position 1381
cDNA position
(for ins/del: last normal base / first normal base)		 1448
gDNA position
(for ins/del: last normal base / first normal base)		 34834
chromosomal position
(for ins/del: last normal base / first normal base)		 148407893
original gDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered gDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
original cDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered cDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
wildtype AA sequence MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS
RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW
KFSTYLNLEH LLFDHKYWLN CILVEDTEIQ VSVDDKHLET IYLGLLIQEG HFFCRALCSV
TPPAEKEGEC LTLCKNELIS VKMAEAGSEL EGVSLVTGQR GLVLVSALEP LPLPFHQWFL
KNYPGSCGLS RKRDWTGSYQ IGRGRCKALT GYEPGEKDEL NFYQGESIEI IGFVIPGLQW
FIGKSTSSGQ VGFVPTRNID PDSYSPMSRN SAFLSDEERC SLLALGSDKQ TECSSFLHTL
ARTDITSVYR LSGFESIQNP PNDLSASQPE GFKEVRPGRA WEEHQAVGSR QSSSSEDSSL
EEELLSATSD SYRLPEPDDL DDPELLMDLS TGQEEEAENF APILAFLDHE GYADHFKSLY
DFSFSFLTSS FYSFSEEDEF VAYLEASRKW AKKSHMTWAH ARLCFLLGRL SIRKVKLSQA
RVYFEEAIHI LNGAFEDLSL VATLYINLAA IYLKQRLRHK GSALLEKAGA LLACLPDRES
SAKHELDVVA YVLRQGIVVG SSPLEARACF LAIRLLLSLG RHEEVLPFAE RLQLLSGHPP
ASEAVASVLS FLYDKKYLPH LAVASVQQHG IQSAQGMSLP IWQVHLVLQN TTKLLGFPSP
GWGEVSALAC PMLRQALAAC EELADRSTQR ALCLILSKVY LEHRSPDGAI HYLSQALVLG
QLLGEQESFE SSLCLAWAYL LASQAKKALD VLEPLLCSLK ETESLTQRGV IYNLLGLALQ
GEGRVNRAAK SYLRALNRAQ EVGDVHNQAV AMANLGHLSL KSWAQHPARN YLLQAVRLYC
ELQASKETDM ELVQVFLWLA QVLVSGHQLT HGLLCYEMAL LFGLRHRHLK SQLQATKSLC
HFYSSVSPNP EACITYHEHW LALAQQLRDR EMEGRLLESL GQLYRNLNTA RSLRRSLTCI
KESLRIFIDL GETDKAAEAW LGAGRLHYLM QEDELVELCL QAAIQTALKS EEPLLALKLY
EEAGDVFFNG TRHRHHAVEY YRAGAVPLAR RLKAVRTELR IFNKLTELQI SLEGYEKALE
FATLAARLST VTGDQRQELV AFHRLATVYY SLHMYEMAED CYLKTLSLCP PWLQSPKEAL
YYAKVYYRLG RLTFCQLKDA HDATEYFLLA LAAAVLLGDE ELQDTIRSRL DNICQSPLWH
SRPSGCSSER ARWLSGGGLA L*
mutated AA sequence MGGCFCIPRE RSLTRGPGKE TPSKDPTVSS ECIASSEYKE KCFLPQNINP DLTLSFCVKS
RSRRCVNGPL QEAARRRLWA LENEDQEVRM LFKDLSARLV SIQSQRAQFL ITFKTMEEIW
KFSTYLNLEH LLFDHKYWLN CILVEDTEIQ VSVDDKHLET IYLGLLIQEG HFFCRALCSV
TPPAEKEGEC LTLCKNELIS VKMAEAGSEL EGVSLVTGQR GLVLVSALEP LPLPFHQWFL
KNYPGSCGLS RKRDWTGSYQ IGRGRCKALT GYEPGEKDEL NFYQGESIEI IGFVIPGLQW
FIGKSTSSGQ VGFVPTRNID PDSYSPMSRN SAFLSDEERC SLLALGSDKQ TECSSFLHTL
ARTDITSVYR LSGFESIQNP PNDLSASQPE GFKEVRPGRA WEEHQAVGSR QSSSSEDSSL
EEELLSATSD SYRLPEPDDL DDPELLMDLS TGQEEEAENF SPILAFLDHE GYADHFKSLY
DFSFSFLTSS FYSFSEEDEF VAYLEASRKW AKKSHMTWAH ARLCFLLGRL SIRKVKLSQA
RVYFEEAIHI LNGAFEDLSL VATLYINLAA IYLKQRLRHK GSALLEKAGA LLACLPDRES
SAKHELDVVA YVLRQGIVVG SSPLEARACF LAIRLLLSLG RHEEVLPFAE RLQLLSGHPP
ASEAVASVLS FLYDKKYLPH LAVASVQQHG IQSAQGMSLP IWQVHLVLQN TTKLLGFPSP
GWGEVSALAC PMLRQALAAC EELADRSTQR ALCLILSKVY LEHRSPDGAI HYLSQALVLG
QLLGEQESFE SSLCLAWAYL LASQAKKALD VLEPLLCSLK ETESLTQRGV IYNLLGLALQ
GEGRVNRAAK SYLRALNRAQ EVGDVHNQAV AMANLGHLSL KSWAQHPARN YLLQAVRLYC
ELQASKETDM ELVQVFLWLA QVLVSGHQLT HGLLCYEMAL LFGLRHRHLK SQLQATKSLC
HFYSSVSPNP EACITYHEHW LALAQQLRDR EMEGRLLESL GQLYRNLNTA RSLRRSLTCI
KESLRIFIDL GETDKAAEAW LGAGRLHYLM QEDELVELCL QAAIQTALKS EEPLLALKLY
EEAGDVFFNG TRHRHHAVEY YRAGAVPLAR RLKAVRTELR IFNKLTELQI SLEGYEKALE
FATLAARLST VTGDQRQELV AFHRLATVYY SLHMYEMAED CYLKTLSLCP PWLQSPKEAL
YYAKVYYRLG RLTFCQLKDA HDATEYFLLA LAAAVLLGDE ELQDTIRSRL DNICQSPLWH
SRPSGCSSER ARWLSGGGLA L*
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: simple_aae, prob: 0.999999979307386 (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) chr5:148407893C>AN/A show variant in all transcripts   IGV
HGNC symbol SH3TC2
Ensembl transcript ID ENST00000538184
Genbank transcript ID N/A
UniProt peptide Q8TF17
alteration type single base exchange
alteration region CDS
DNA changes c.43G>T
cDNA.932G>T
g.34834G>T
AA changes A15S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 15
frameshift no
known variant Reference ID: rs6875902
databasehomozygous (A/A)heterozygousallele carriers
1000G126731857
ExAC27391891121650
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1130.272
0.1250.205
(flanking)-0.0850.213
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased34843wt: 0.48 / mu: 0.80wt: CTGAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAG
mu: CTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAG		 atat|TGGC
Acc increased34845wt: 0.62 / mu: 0.86wt: GAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAGGG
mu: GAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAGGG		 attg|GCTT
Acc gained348410.57mu: GGCTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATG ccat|ATTG
distance from splice site 225
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      15STGQEEEAENFAPILAFLDHEGYA
mutated  all conserved    15STGQEEEAENFSPILAFLDHEGY
Ptroglodytes  all identical  ENSPTRG00000017392  468STGQEEEAENFAPILAFLDHEGY
Mmulatta  not conserved  ENSMMUG00000019820  468STDQEEEAENFTPILAFLDHEGY
Fcatus  all identical  ENSFCAG00000007955  469NTGQEEEEAENFAPMLAFLDHKGY
Mmusculus  all identical  ENSMUSG00000045629  468STSLEEDDVEHFAPILAFLDHEGY
Ggallus  no alignment  ENSGALG00000002806  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089917  470GIWETEEAERCDPILTLLNLEYF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
104104MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
268331DOMAINSH3.might get lost (downstream of altered splice site)
334334CONFLICTM -> R (in Ref. 6; BAB85571).might get lost (downstream of altered splice site)
528561REPEATTPR 1.might get lost (downstream of altered splice site)
757790REPEATTPR 2.might get lost (downstream of altered splice site)
836869REPEATTPR 3.might get lost (downstream of altered splice site)
10011037REPEATTPR 4.might get lost (downstream of altered splice site)
10841118REPEATTPR 5.might get lost (downstream of altered splice site)
11191152REPEATTPR 6.might get lost (downstream of altered splice site)
11581158CONFLICTV -> I (in Ref. 6; BAB85571).might get lost (downstream of altered splice site)
11661199REPEATTPR 7.might get lost (downstream of altered splice site)
12101244REPEATTPR 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2181 / 2181
position (AA) of stopcodon in wt / mu AA sequence 727 / 727
position of stopcodon in wt / mu cDNA 3070 / 3070
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 890 / 890
chromosome 5
strand -1
last intron/exon boundary 3198
theoretical NMD boundary in CDS 2258
length of CDS 2181
coding sequence (CDS) position 43
cDNA position
(for ins/del: last normal base / first normal base)		 932
gDNA position
(for ins/del: last normal base / first normal base)		 34834
chromosomal position
(for ins/del: last normal base / first normal base)		 148407893
original gDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered gDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
original cDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered cDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
wildtype AA sequence MDLSTGQEEE AENFAPILAF LDHEGYADHF KSLYDFSFSF LTSSFYSFSE EDEFVAYLEA
SRKWAKKSHM TWAHARLCFL LGRLSIRKVK LSQARVYFEE AIHILNGAFE DLSLVATLYI
NLAAIYLKQR LRHKGSALLE KAGALLACLP DRESSAKHEL DVVAYVLRQG IVVGSSPLEA
RACFLAIRLL LSLGRHEEVL PFAERLQLLS GHPPASEAVA SVLSFLYDKK YLPHLAVASV
QQHGIQSAQG MSLPIWQVHL VLQNTTKLLG FPSPGWGEVS ALACPMLRQA LAACEELADR
STQRALCLIL SKVYLEHRSP DGAIHYLSQA LVLGQLLGEQ ESFESSLCLA WAYLLASQAK
KALDVLEPLL CSLKETESLT QRGVIYNLLG LALQGEGRVN RAAKSYLRAL NRAQEVGDVH
NQAVAMANLG HLSLKSWAQH PARNYLLQAV RLYCELQASK ETDMELVQVF LWLAQVLVSG
HQLTHGLLCY EMALLFGLRH RHLKSQLQAT KSLCHFYSSV SPNPEACITY HEHWLALAQQ
LRDREMEGRL LESLGQLYRN LNTARSLRRS LTCIKESLRI FIDLGETDKA AEAWLGAGRL
HYLMQEDELV ELCLQAAIQT ALKSEEPLLA LKLYEEAGDV FFNGTRHRHH AVEYYRAGAV
PLARRLKAVR TELRIFNKLT ELQISLEGYE KALEFATLAA RLSTVTEARA GGLSPPGYSV
LLPAHV*
mutated AA sequence MDLSTGQEEE AENFSPILAF LDHEGYADHF KSLYDFSFSF LTSSFYSFSE EDEFVAYLEA
SRKWAKKSHM TWAHARLCFL LGRLSIRKVK LSQARVYFEE AIHILNGAFE DLSLVATLYI
NLAAIYLKQR LRHKGSALLE KAGALLACLP DRESSAKHEL DVVAYVLRQG IVVGSSPLEA
RACFLAIRLL LSLGRHEEVL PFAERLQLLS GHPPASEAVA SVLSFLYDKK YLPHLAVASV
QQHGIQSAQG MSLPIWQVHL VLQNTTKLLG FPSPGWGEVS ALACPMLRQA LAACEELADR
STQRALCLIL SKVYLEHRSP DGAIHYLSQA LVLGQLLGEQ ESFESSLCLA WAYLLASQAK
KALDVLEPLL CSLKETESLT QRGVIYNLLG LALQGEGRVN RAAKSYLRAL NRAQEVGDVH
NQAVAMANLG HLSLKSWAQH PARNYLLQAV RLYCELQASK ETDMELVQVF LWLAQVLVSG
HQLTHGLLCY EMALLFGLRH RHLKSQLQAT KSLCHFYSSV SPNPEACITY HEHWLALAQQ
LRDREMEGRL LESLGQLYRN LNTARSLRRS LTCIKESLRI FIDLGETDKA AEAWLGAGRL
HYLMQEDELV ELCLQAAIQT ALKSEEPLLA LKLYEEAGDV FFNGTRHRHH AVEYYRAGAV
PLARRLKAVR TELRIFNKLT ELQISLEGYE KALEFATLAA RLSTVTEARA GGLSPPGYSV
LLPAHV*
speed 0.30 s
All positions are in basepairs (bp) if not explicitly stated differently.
AA/aa: amino acid; CDS: coding sequence; mu: mutated; NMD: nonsense-mediated mRNA decay; nt: nucleotide; wt: wildtype; TGP: 1000 Genomes Project
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Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999979307386 (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) chr5:148407893C>AN/A show variant in all transcripts   IGV
HGNC symbol SH3TC2
Ensembl transcript ID ENST00000394358
Genbank transcript ID N/A
UniProt peptide Q8TF17
alteration type single base exchange
alteration region CDS
DNA changes c.1057G>T
cDNA.1510G>T
g.34834G>T
AA changes A353S Score: 99 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 353
frameshift no
known variant Reference ID: rs6875902
databasehomozygous (A/A)heterozygousallele carriers
1000G126731857
ExAC27391891121650
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1130.272
0.1250.205
(flanking)-0.0850.213
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased34843wt: 0.48 / mu: 0.80wt: CTGAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAG
mu: CTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAG		 atat|TGGC
Acc increased34845wt: 0.62 / mu: 0.86wt: GAGAACTTCGCCCCCATATTGGCTTTTCTGGATCATGAGGG
mu: GAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATGAGGG		 attg|GCTT
Acc gained348410.57mu: GGCTGAGAACTTCTCCCCCATATTGGCTTTTCTGGATCATG ccat|ATTG
distance from splice site 225
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      353STGQEEEAENFAPILAFLDHEGYA
mutated  all conserved    353STGQEEEAENFSPILAFLD
Ptroglodytes  all identical  ENSPTRG00000017392  468STGQEEEAENFAPILAFLD
Mmulatta  not conserved  ENSMMUG00000019820  468STDQEEEAENFTPILAFLD
Fcatus  all identical  ENSFCAG00000007955  469NTGQEEEEAENFAPMLAFLDHKGY
Mmusculus  all identical  ENSMUSG00000045629  467STSLEEDDVEHFAPILAF
Ggallus  no alignment  ENSGALG00000002806  n/a
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000089917  470CDPILTLLNLEYF
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
528561REPEATTPR 1.might get lost (downstream of altered splice site)
757790REPEATTPR 2.might get lost (downstream of altered splice site)
836869REPEATTPR 3.might get lost (downstream of altered splice site)
10011037REPEATTPR 4.might get lost (downstream of altered splice site)
10841118REPEATTPR 5.might get lost (downstream of altered splice site)
11191152REPEATTPR 6.might get lost (downstream of altered splice site)
11581158CONFLICTV -> I (in Ref. 6; BAB85571).might get lost (downstream of altered splice site)
11661199REPEATTPR 7.might get lost (downstream of altered splice site)
12101244REPEATTPR 8.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2805 / 2805
position (AA) of stopcodon in wt / mu AA sequence 935 / 935
position of stopcodon in wt / mu cDNA 3258 / 3258
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 454 / 454
chromosome 5
strand -1
last intron/exon boundary 1286
theoretical NMD boundary in CDS 782
length of CDS 2805
coding sequence (CDS) position 1057
cDNA position
(for ins/del: last normal base / first normal base)		 1510
gDNA position
(for ins/del: last normal base / first normal base)		 34834
chromosomal position
(for ins/del: last normal base / first normal base)		 148407893
original gDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered gDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
original cDNA sequence snippet AGGAGGAGGCTGAGAACTTCGCCCCCATATTGGCTTTTCTG
altered cDNA sequence snippet AGGAGGAGGCTGAGAACTTCTCCCCCATATTGGCTTTTCTG
wildtype AA sequence MEEIWKFSTY LNLGYVSMCL EHLLFDHKYW LNCILVEDTE IQVSVDDKHL ETIYLGLLIQ
EGHFFCRALC SVTPPAEKEG ECLTLCKNEL ISVKMAEAGS ELEGVSLVTG QRGLVLVSAL
EPLPLPFHQW FLKNYPGSCG LSRKRDWTGS YQIGRGRCKA LTGYEPGEKD ELNFYQGESI
EIIGFVIPGL QWFIGKSTSS GQVGFVPTRN IDPDSYSPMS RNSAFLSDEE RCSLLALGSD
KQTECSSFLH TLARTDITSV YRLSGFESIQ NPPNDLSASQ PEGFKEVRPG RAWEEHQAVG
SRQSSSSEDS SLEEELLSAT SDSYRLPEPD DLDDPELLMD LSTGQEEEAE NFAPILAFLD
HEGYADHFKS LYDFSFSFLT SSFYSFSEED EFVAYLEASR KWAKKSHMTW AHARLCFLLG
RLSIRKVKLS QARVYFEEAI HILNGAFEDL SLVATLYINL AAIYLKQRLR HKGSALLEKA
GALLACLPDR ESSAKHELDV VAYVLRQGIV VGSSPLEARA CFLAIRLLLS LGRHEEVLPF
AERLQLLSGH PPASEAVASV LSFLYDKKYL PHLAVASVQQ HGIQSAQGMS LPIWQVHLVL
QNTTKLLGFP SPGWGEVSAL ACPMLRQALA ACEELADRST QRALCLILSK VYLEHRSPDG
AIHYLSQALV LGQLLGEQES FESSLCLAWA YLLASQAKKA LDVLEPLLCS LKETESLTQR
GVIYNLLGLA LQGEGRVNRA AKSYLRALNR AQEVGDVHNQ AVAMANLGHL SLKSWAQHPA
RNYLLQAVRL YCELQASKET DMELVQVFLW LAQVLVSGHQ LTHGLLCYEM ALLFGLRHRH
LKSKYVPCCW EAIEKSVGSS FIHFLSQVIS FMSLLCVQVS FRPPNPSAIS TALCPQTLRH
ASPTMSTGWP WLSNSGTGRW KGGCWSPWGS FIGT*
mutated AA sequence MEEIWKFSTY LNLGYVSMCL EHLLFDHKYW LNCILVEDTE IQVSVDDKHL ETIYLGLLIQ
EGHFFCRALC SVTPPAEKEG ECLTLCKNEL ISVKMAEAGS ELEGVSLVTG QRGLVLVSAL
EPLPLPFHQW FLKNYPGSCG LSRKRDWTGS YQIGRGRCKA LTGYEPGEKD ELNFYQGESI
EIIGFVIPGL QWFIGKSTSS GQVGFVPTRN IDPDSYSPMS RNSAFLSDEE RCSLLALGSD
KQTECSSFLH TLARTDITSV YRLSGFESIQ NPPNDLSASQ PEGFKEVRPG RAWEEHQAVG
SRQSSSSEDS SLEEELLSAT SDSYRLPEPD DLDDPELLMD LSTGQEEEAE NFSPILAFLD
HEGYADHFKS LYDFSFSFLT SSFYSFSEED EFVAYLEASR KWAKKSHMTW AHARLCFLLG
RLSIRKVKLS QARVYFEEAI HILNGAFEDL SLVATLYINL AAIYLKQRLR HKGSALLEKA
GALLACLPDR ESSAKHELDV VAYVLRQGIV VGSSPLEARA CFLAIRLLLS LGRHEEVLPF
AERLQLLSGH PPASEAVASV LSFLYDKKYL PHLAVASVQQ HGIQSAQGMS LPIWQVHLVL
QNTTKLLGFP SPGWGEVSAL ACPMLRQALA ACEELADRST QRALCLILSK VYLEHRSPDG
AIHYLSQALV LGQLLGEQES FESSLCLAWA YLLASQAKKA LDVLEPLLCS LKETESLTQR
GVIYNLLGLA LQGEGRVNRA AKSYLRALNR AQEVGDVHNQ AVAMANLGHL SLKSWAQHPA
RNYLLQAVRL YCELQASKET DMELVQVFLW LAQVLVSGHQ LTHGLLCYEM ALLFGLRHRH
LKSKYVPCCW EAIEKSVGSS FIHFLSQVIS FMSLLCVQVS FRPPNPSAIS TALCPQTLRH
ASPTMSTGWP WLSNSGTGRW KGGCWSPWGS FIGT*
speed 0.76 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