Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999844543317 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • homozygous in TGP or ExAC
  • protein features (might be) affected
  • splice site changes
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr19:51170706A>GN/A show variant in all transcripts   IGV
HGNC symbol SYT3
Ensembl transcript ID ENST00000544769
Genbank transcript ID N/A
UniProt peptide Q9BQG1
alteration type single base exchange
alteration region intron
DNA changes g.946T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs3745521
databasehomozygous (G/G)heterozygousallele carriers
1000G13818332214
ExAC7702610213804
regulatory features DNase1, Open Chromatin, DNase1 Hypersensitive Site
H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.2460
0.0820
(flanking)-0.1440
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -171) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased946wt: 0.2747 / mu: 0.2802 (marginal change - not scored)wt: CTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCC
mu: CTGCCAGCCCCGGGCCCCTGCGACGAGCGGAAGGGGTCCCC		 ctgt|GACG
Donor marginally increased946wt: 0.9240 / mu: 0.9771 (marginal change - not scored)wt: CCCTGTGACGAGCGG
mu: CCCTGCGACGAGCGG		 CTGT|gacg
Donor marginally increased944wt: 0.9904 / mu: 0.9907 (marginal change - not scored)wt: GCCCCTGTGACGAGC
mu: GCCCCTGCGACGAGC		 CCCT|gtga
Donor increased951wt: 0.72 / mu: 0.83wt: TGACGAGCGGAAGGG
mu: CGACGAGCGGAAGGG		 ACGA|gcgg
distance from splice site 904
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes		 N/A
protein features
start (aa)end (aa)featuredetails 
154TOPO_DOMVesicular (Potential).might get lost (downstream of altered splice site)
5575TRANSMEMHelical; (Potential).might get lost (downstream of altered splice site)
76590TOPO_DOMCytoplasmic (Potential).might get lost (downstream of altered splice site)
8282CONFLICTP -> H (in Ref. 2; AAH31067).might get lost (downstream of altered splice site)
301402DOMAINC2 1.might get lost (downstream of altered splice site)
324324CONFLICTL -> M (in Ref. 2; AAH28379).might get lost (downstream of altered splice site)
330330METALCalcium 2 (By similarity).might get lost (downstream of altered splice site)
330330METALCalcium 1 (By similarity).might get lost (downstream of altered splice site)
336336METALCalcium 1 (By similarity).might get lost (downstream of altered splice site)
388388METALCalcium 1 (By similarity).might get lost (downstream of altered splice site)
388388METALCalcium 2 (By similarity).might get lost (downstream of altered splice site)
389389METALCalcium 1; via carbonyl oxygen (By similarity).might get lost (downstream of altered splice site)
390390METALCalcium 2 (By similarity).might get lost (downstream of altered splice site)
390390METALCalcium 1 (By similarity).might get lost (downstream of altered splice site)
390390METALCalcium 3 (By similarity).might get lost (downstream of altered splice site)
393393METALCalcium 3 (By similarity).might get lost (downstream of altered splice site)
396396METALCalcium 2 (By similarity).might get lost (downstream of altered splice site)
396396METALCalcium 3 (By similarity).might get lost (downstream of altered splice site)
433536DOMAINC2 2.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 560 / 560
chromosome 19
strand -1
last intron/exon boundary 2336
theoretical NMD boundary in CDS 1726
length of CDS 1773
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)		 946
chromosomal position
(for ins/del: last normal base / first normal base)		 51170706
original gDNA sequence snippet CTGCCAGCCCCGGGCCCCTGTGACGAGCGGAAGGGGTCCCC
altered gDNA sequence snippet CTGCCAGCCCCGGGCCCCTGCGACGAGCGGAAGGGGTCCCC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MSGDYEDDLC RRALILVSDL CARVRDADTN DRCQEFNDRI RGYPRGPDAD ISVSLLSVIV
TFCGIVLLGV SLFVSWKLCW VPWRDKGGSA VGGGPLRKDL GPGVGLAGLV GGGGHHLAAG
LGGHPLLGGP HHHAHAAHHP PFAELLEPGS LGGSDTPEPS YLDMDSYPEA AAAAVAAGVK
PSQTSPELPS EGGAGSGLLL LPPSGGGLPS AQSHQQVTSL APTTRYPALP RPLTQQTLTS
QPDPSSEERP PALPLPLPGG EEKAKLIGQI KPELYQGTGP GGRRSGGGPG SGEAGTGAPC
GRISFALRYL YGSDQLVVRI LQALDLPAKD SNGFSDPYVK IYLLPDRKKK FQTKVHRKTL
NPVFNETFQF SVPLAELAQR KLHFSVYDFD RFSRHDLIGQ VVLDNLLELA EQPPDRPLWR
DIVEGGSEKA DLGELNFSLC YLPTAGRLTV TIIKASNLKA MDLTGFSDPY VKASLISEGR
RLKKRKTSIK KNTLNPTYNE ALVFDVAPES VENVGLSIAV VDYDCIGHNE VIGVCRVGPD
AADPHGREHW AEMLANPRKP VEHWHQLVEE KTVTSFTKGS KGLSEKENSE *
mutated AA sequence N/A
speed 0.65 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