Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999526117 (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) chr6:25776949G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC17A4
Ensembl transcript ID ENST00000377905
Genbank transcript ID NM_005495
UniProt peptide Q9Y2C5
alteration type single base exchange
alteration region CDS
DNA changes c.1114G>A
cDNA.1233G>A
g.22023G>A
AA changes A372T Score: 58 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 372
frameshift no
known variant Reference ID: rs11754288
databasehomozygous (A/A)heterozygousallele carriers
1000G2458121057
ExAC91991436923568
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.4960.005
-0.6730
(flanking)0.7720
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc increased22026wt: 0.60 / mu: 0.75wt: TCAGGAAACTCTTCACTGCCATTGGTAAGGGAGAGACTGGA
mu: TCAGGAAACTCTTCACTACCATTGGTAAGGGAGAGACTGGA		 gcca|TTGG
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      372LRLITIRKLFTAIGVLFPSVILVS
mutated  not conserved    372LRLITIRKLFTTIGVLFPSVILV
Ptroglodytes  all identical  ENSPTRG00000017791  372LRLITIRKLFTAIGVLFPSVILV
Mmulatta  all identical  ENSMMUG00000002579  372LRLITIRKLFTAIGVLFPSVILV
Fcatus  no alignment  ENSFCAG00000014669  n/a
Mmusculus  all identical  ENSMUSG00000021336  369LRLVTIRKLFTAVGVLASSGILL
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  not conserved  ENSDARG00000086739  379LSVTAVRKIFTFIGLFLPAAFLL
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
368388TRANSMEMHelical; (Potential).lost
398418TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
431451TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
461481TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1494 / 1494
position (AA) of stopcodon in wt / mu AA sequence 498 / 498
position of stopcodon in wt / mu cDNA 1613 / 1613
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 120 / 120
chromosome 6
strand 1
last intron/exon boundary 1479
theoretical NMD boundary in CDS 1309
length of CDS 1494
coding sequence (CDS) position 1114
cDNA position
(for ins/del: last normal base / first normal base)		 1233
gDNA position
(for ins/del: last normal base / first normal base)		 22023
chromosomal position
(for ins/del: last normal base / first normal base)		 25776949
original gDNA sequence snippet CCATCAGGAAACTCTTCACTGCCATTGGTAAGGGAGAGACT
altered gDNA sequence snippet CCATCAGGAAACTCTTCACTACCATTGGTAAGGGAGAGACT
original cDNA sequence snippet CCATCAGGAAACTCTTCACTGCCATTGGGGTTCTCTTCCCA
altered cDNA sequence snippet CCATCAGGAAACTCTTCACTACCATTGGGGTTCTCTTCCCA
wildtype AA sequence MSTGPDVKAT VGDISSDGNL NVAQEECSRK GFCSVRHGLA LILQLCNFSI YTQQMNLSIA
IPAMVNNTAP PSQPNASTER PSTDSQGYWN ETLKEFKAMA PAYDWSPEIQ GIILSSLNYG
SFLAPIPSGY VAGIFGAKYV VGAGLFISSF LTLFIPLAAN AGVALLIVLR IVQGIAQVMV
LTGQYSIWVK WAPPLERSQL TTIAGSGSML GSFIVLLAGG LLCQTIGWPY VFYIFGGIGC
ACCPLWFPLI YDDPVNHPFI SAGEKRYIVC SLAQQDCSPG WSLPIRAMIK SLPLWAILVS
YFCEYWLFYT IMAYTPTYIS SVLQANLRDS GILSALPFVV GCICIILGGL LADFLLSRKI
LRLITIRKLF TAIGVLFPSV ILVSLPWVRS SHSMTMTFLV LSSAISSFCE SGALVNFLDI
APRYTGFLKG LLQVFAHIAG AISPTAAGFF ISQDSEFGWR NVFLLSAAVN ISGLVFYLIF
GRADVQDWAK EQTFTHL*
mutated AA sequence MSTGPDVKAT VGDISSDGNL NVAQEECSRK GFCSVRHGLA LILQLCNFSI YTQQMNLSIA
IPAMVNNTAP PSQPNASTER PSTDSQGYWN ETLKEFKAMA PAYDWSPEIQ GIILSSLNYG
SFLAPIPSGY VAGIFGAKYV VGAGLFISSF LTLFIPLAAN AGVALLIVLR IVQGIAQVMV
LTGQYSIWVK WAPPLERSQL TTIAGSGSML GSFIVLLAGG LLCQTIGWPY VFYIFGGIGC
ACCPLWFPLI YDDPVNHPFI SAGEKRYIVC SLAQQDCSPG WSLPIRAMIK SLPLWAILVS
YFCEYWLFYT IMAYTPTYIS SVLQANLRDS GILSALPFVV GCICIILGGL LADFLLSRKI
LRLITIRKLF TTIGVLFPSV ILVSLPWVRS SHSMTMTFLV LSSAISSFCE SGALVNFLDI
APRYTGFLKG LLQVFAHIAG AISPTAAGFF ISQDSEFGWR NVFLLSAAVN ISGLVFYLIF
GRADVQDWAK EQTFTHL*
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