Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 2.02165887326509e-21 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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 ENST00000502059
Genbank transcript ID N/A
UniProt peptide Q13336
alteration type single base exchange
alteration region intron
DNA changes g.6324G>A
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
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 3032
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
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 N/A
AA sequence altered N/A
position of stopcodon in wt / mu CDS N/A
position (AA) of stopcodon in wt / mu AA sequence N/A
position of stopcodon in wt / mu cDNA N/A
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 301 / 301
chromosome 18
strand 1
last intron/exon boundary 973
theoretical NMD boundary in CDS 622
length of CDS 846
coding sequence (CDS) position N/A
cDNA position
(for ins/del: last normal base / first normal base)		 N/A
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 N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGRRNRSLIA SGLYGYNATL VGVLMAVFSD KGDYFWWLLL PVCAMSMTCP IFSSALNSML
SKWDLPVFTL PFNMALSMYL SATGHYNPFF PAKLVIPITT APNISWSDLS ALELLKSIPV
GVGQIYGCDN PWTGGIFLGA ILLSSPLMCL HAAIGSLLGI AAGLSLSAPF EDIYFGLWGF
NSSLACIAMG GMFMALTWQT HLLALGCALF TAYLGVGMAN FMAEVGLPAC TWPFCLATLL
FLIMTTKNSN IYKMPLSKVT YPEENRIFYL QAKKRMVESP L*
mutated AA sequence N/A
speed 0.80 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