Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.0920675532748007 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
  • known disease mutation at this position (HGMD CM1111866)
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr18:43310415G>AN/A show variant in all transcripts   IGV
HGNC symbol SLC14A1
Ensembl transcript ID ENST00000589322
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region CDS
DNA changes c.130G>A
cDNA.288G>A
g.6324G>A
AA changes E44K Score: 56 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 44
frameshift no
known variant Reference ID: rs2298720
databasehomozygous (A/A)heterozygousallele carriers
1000G1718371008
ExAC19841392715911

known disease mutation at this position, please check HGMD for details (HGMD ID CM1111866)
regulatory features H2BK120ac, Histone, Histone 2B Lysine 120 Acetylation
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2220.985
2.9681
(flanking)1.3741
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased6319wt: 0.22 / mu: 0.99wt: TGACATGAAAGAACT
mu: TGACATGAAAAAACT		 ACAT|gaaa
Donor marginally increased6329wt: 0.9455 / mu: 0.9457 (marginal change - not scored)wt: GAACTTGCCAACCAG
mu: AAACTTGCCAACCAG		 ACTT|gcca
Donor marginally increased6321wt: 0.8148 / mu: 0.8253 (marginal change - not scored)wt: ACATGAAAGAACTTG
mu: ACATGAAAAAACTTG		 ATGA|aaga
distance from splice site 22
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      44KALGYVTGDMKELANQLKDKPVVL
mutated  all conserved    44KALGYVTGDMKKLANQLKDKPVV
Ptroglodytes  all identical  ENSPTRG00000009988  100KALGYVTGDMKELANQLKDKPVV
Mmulatta  all identical  ENSMMUG00000011037  44KALGYVTGDMKELANWLKDKPAV
Fcatus  all identical  ENSFCAG00000000240  44KALGYVTGDMKEFASWLKDKPQV
Mmusculus  all identical  ENSMUSG00000059336  100KVLGYVTGDMKEFANWLKDKPVV
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
4949CONFLICTL -> M (in Ref. 5; BAF82297).might get lost (downstream of altered splice site)
5373TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
6464CONFLICTR -> Q (in Ref. 8; ACV91713).might get lost (downstream of altered splice site)
7898TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
116136TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
143163TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
173193TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
211211CARBOHYDN-linked (GlcNAc...) (Potential).might get lost (downstream of altered splice site)
231231CONFLICTG -> GVG (in Ref. 1).might get lost (downstream of altered splice site)
243263TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
281301TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
310330TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
333353TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1170 / 1170
position (AA) of stopcodon in wt / mu AA sequence 390 / 390
position of stopcodon in wt / mu cDNA 1328 / 1328
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 159 / 159
chromosome 18
strand 1
last intron/exon boundary 1155
theoretical NMD boundary in CDS 946
length of CDS 1170
coding sequence (CDS) position 130
cDNA position
(for ins/del: last normal base / first normal base)		 288
gDNA position
(for ins/del: last normal base / first normal base)		 6324
chromosomal position
(for ins/del: last normal base / first normal base)		 43310415
original gDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered gDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
original cDNA sequence snippet ATGTCACCGGTGACATGAAAGAACTTGCCAACCAGCTTAAA
altered cDNA sequence snippet ATGTCACCGGTGACATGAAAAAACTTGCCAACCAGCTTAAA
wildtype AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKELANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
KMPLSKVTYP EENRIFYLQA KKRMVESPL*
mutated AA sequence MEDSPTMVRV DSPTMVRGEN QVSPCQGRRC FPKALGYVTG DMKKLANQLK DKPVVLQFID
WILRGISQVV FVNNPVSGIL ILVGLLVQNP WWALTGWLGT VVSTLMALLL SQDRSLIASG
LYGYNATLVG VLMAVFSDKG DYFWWLLLPV CAMSMTCPIF SSALNSMLSK WDLPVFTLPF
NMALSMYLSA TGHYNPFFPA KLVIPITTAP NISWSDLSAL ELLKSIPVGV GQIYGCDNPW
TGGIFLGAIL LSSPLMCLHA AIGSLLGIAA GLSLSAPFED IYFGLWGFNS SLACIAMGGM
FMALTWQTHL LALGCALFTA YLGVGMANFM AEVGLPACTW PFCLATLLFL IMTTKNSNIY
KMPLSKVTYP EENRIFYLQA KKRMVESPL*
speed 1.31 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