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 0.71 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