Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999997575041 (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
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:133105120C>TN/A show variant in all transcripts   IGV
HGNC symbol SLC18B1
Ensembl transcript ID ENST00000275227
Genbank transcript ID NM_052831
UniProt peptide Q6NT16
alteration type single base exchange
alteration region CDS
DNA changes c.610G>A
cDNA.707G>A
g.14582G>A
AA changes V204I Score: 29 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 204
frameshift no
known variant Reference ID: rs6926101
databasehomozygous (T/T)heterozygousallele carriers
1000G201532733
ExAC138383799762
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)2.8570.575
-2.1470.04
(flanking)1.1160.795
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor marginally increased14574wt: 0.8879 / mu: 0.9641 (marginal change - not scored)wt: TGTTCTGGGATGCGT
mu: TGTTCTGGGATGCAT		 TTCT|ggga
distance from splice site 49
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      204GYEVPFIVLGCVVLLMVPLNMYIL
mutated  all conserved    204GYEVPFIVLGCIVLLMVPLNMYI
Ptroglodytes  all conserved  ENSPTRG00000018616  204GYEVPFIVLGCIVLLMVPLNMYI
Mmulatta  all conserved  ENSMMUG00000013236  204GYEVPFIVLGCIVLLMVPLNMYI
Fcatus  all conserved  ENSFCAG00000011135  204GYEVPFIFLGCIVLLMVPLNMYI
Mmusculus  all conserved  ENSMUSG00000037455  204GYEVPFIFLGCIVLLMIPLNLYI
Ggallus  no alignment  ENSGALG00000019961  n/a
Trubripes  not conserved  ENSTRUG00000001854  185LLGCFLLVMVPFNIYVLPA
Drerio  all conserved  ENSDARG00000044047  195GYEIPFVFTGCLLFATVPLNMWI
Dmelanogaster  no homologue    
Celegans  all identical  F55A4.8  396LGIVLLVASVLAFFL
Xtropicalis  all identical  ENSXETG00000000108  227GYEIPFIVLGCVVLLM
protein features
start (aa)end (aa)featuredetails 
196216TRANSMEMHelical; (Potential).lost
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1371 / 1371
position (AA) of stopcodon in wt / mu AA sequence 457 / 457
position of stopcodon in wt / mu cDNA 1468 / 1468
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 98 / 98
chromosome 6
strand -1
last intron/exon boundary 1402
theoretical NMD boundary in CDS 1254
length of CDS 1371
coding sequence (CDS) position 610
cDNA position
(for ins/del: last normal base / first normal base)		 707
gDNA position
(for ins/del: last normal base / first normal base)		 14582
chromosomal position
(for ins/del: last normal base / first normal base)		 133105120
original gDNA sequence snippet CTTTTATTGTTCTGGGATGCGTCGTTTTGCTGATGGTACCA
altered gDNA sequence snippet CTTTTATTGTTCTGGGATGCATCGTTTTGCTGATGGTACCA
original cDNA sequence snippet CTTTTATTGTTCTGGGATGCGTCGTTTTGCTGATGGTACCA
altered cDNA sequence snippet CTTTTATTGTTCTGGGATGCATCGTTTTGCTGATGGTACCA
wildtype AA sequence MEALGDLEGP RAPGGDDPAG SAGETPGWLS REQVFVLISA ASVNLGSMMC YSILGPFFPK
EAEKKGASNT IIGMIFGCFA LFELLASLVF GNYLVHIGAK FMFVAGMFVS GGVTILFGVL
DRVPDGPVFI AMCFLVRVMD AVSFAAAMTA SSSILAKAFP NNVATVLGSL ETFSGLGLIL
GPPVGGFLYQ SFGYEVPFIV LGCVVLLMVP LNMYILPNYE SDPGEHSFWK LIALPKVGLI
AFVINSLSSC FGFLDPTLSL FVLEKFNLPA GYVGLVFLGM ALSYAISSPL FGLLSDKRPP
LRKWLLVFGN LITAGCYMLL GPVPILHIKS QLWLLVLILV VSGLSAGMSI IPTFPEILSC
AHENGFEEGL STLGLVSGLF SAMWSIGAFM GPTLGGFLYE KIGFEWAAAI QGLWALISGL
AMGLFYLLEY SRRKRSKSQN ILSTEEERTT LLPNET*
mutated AA sequence MEALGDLEGP RAPGGDDPAG SAGETPGWLS REQVFVLISA ASVNLGSMMC YSILGPFFPK
EAEKKGASNT IIGMIFGCFA LFELLASLVF GNYLVHIGAK FMFVAGMFVS GGVTILFGVL
DRVPDGPVFI AMCFLVRVMD AVSFAAAMTA SSSILAKAFP NNVATVLGSL ETFSGLGLIL
GPPVGGFLYQ SFGYEVPFIV LGCIVLLMVP LNMYILPNYE SDPGEHSFWK LIALPKVGLI
AFVINSLSSC FGFLDPTLSL FVLEKFNLPA GYVGLVFLGM ALSYAISSPL FGLLSDKRPP
LRKWLLVFGN LITAGCYMLL GPVPILHIKS QLWLLVLILV VSGLSAGMSI IPTFPEILSC
AHENGFEEGL STLGLVSGLF SAMWSIGAFM GPTLGGFLYE KIGFEWAAAI QGLWALISGL
AMGLFYLLEY SRRKRSKSQN ILSTEEERTT LLPNET*
speed 0.95 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