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 1.30 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