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 ENST00000535474
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 splice site change before start ATG (at aa -17) |
effectgDNA positionscoredetection 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 3824
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 210 / 210
chromosome 18
strand 1
last intron/exon boundary 810
theoretical NMD boundary in CDS 550
length of CDS 774
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 MAVFSDKGDY FWWLLLPVCA MSMTCPIFSS ALNSMLSKWD LPVFTLPFNM ALSMYLSATG
HYNPFFPAKL VIPITTAPNI SWSDLSALEL LKSIPVGVGQ IYGCDNPWTG GIFLGAILLS
SPLMCLHAAI GSLLGIAAGL SLSAPFEDIY FGLWGFNSSL ACIAMGGMFM ALTWQTHLLA
LGCALFTAYL GVGMANFMAE VGLPACTWPF CLATLLFLIM TTKNSNIYKM PLSKVTYPEE
NRIFYLQAKK RMVESPL*
mutated AA sequence N/A
speed 0.85 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