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 1.19 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