Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999901048844217 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:51919949G>AN/A show variant in all transcripts   IGV
HGNC symbol SIGLEC10
Ensembl transcript ID ENST00000432469
Genbank transcript ID NM_001171160
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.1109C>T
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs9304711
databasehomozygous (A/A)heterozygousallele carriers
1000G2528531105
ExAC49502228927239
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K4me2, Histone, Histone 3 Lysine 4 Di-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.2960
1.4850.002
(flanking)-0.2560
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 increased1109wt: 0.3728 / mu: 0.3755 (marginal change - not scored)wt: GAGCGCACAGAGGAC
mu: GAGCGTACAGAGGAC		 GCGC|acag
Donor marginally increased1114wt: 0.9084 / mu: 0.9130 (marginal change - not scored)wt: CACAGAGGACCGTCC
mu: TACAGAGGACCGTCC		 CAGA|ggac
distance from splice site 7
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features N/A
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 223 / 223
chromosome 19
strand -1
last intron/exon boundary 1510
theoretical NMD boundary in CDS 1237
length of CDS 1560
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)		 1109
chromosomal position
(for ins/del: last normal base / first normal base)		 51919949
original gDNA sequence snippet CTCCAGAAAGGGTGTGAGCGCACAGAGGACCGTCCGACTCC
altered gDNA sequence snippet CTCCAGAAAGGGTGTGAGCGTACAGAGGACCGTCCGACTCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MLLPLLLSSL LGGSQAMDGR FWIRVQESVM VPEGLCISVP CSFSYPRQDW TGSTPAYGYW
FKAVTETTKG APVATNHQSR EVEMSTRGRF QLTGDPAKGN CSLVIRDAQM QDESQYFFRV
ERGSYVRYNF MNDGFFLKVT ALTQKTVRLR VAYAPRDLVI SISRDNTPAL EPQPQGNVPY
LEAQKGQFLR LLCAADSQPP ATLSWVLQNR VLSSSHPWGP RPLGLELPGV KAGDSGRYTC
RAENRLGSQQ RALDLSVQYP PENLRVMVSQ ANRTVLENLG NGTSLPVLEG QSLCLVCVTH
SSPPARLSWT QRGQVLSPSQ PSDPGVLELP RVQVEHEGEF TCHARHPLGS QHVSLSLSVH
YKKGLISTAF SNGAFLGIGI TALLFLCLAL IIMKILPKRR TQTETPRPRF SRHSTILDYI
NVVPTAGPLA QKRNQKATPN SPRTPLPPGA PSPESKKNQK KQYQLPSFPE PKSSTQAPES
QESQEELHYA TLNFPGVRPR PEARMPKGTQ ADYAEVKFQ*
mutated AA sequence N/A
speed 1.08 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