Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: without_aae, prob: 0.999999752163778 (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) chr3:194842785C>GN/A show variant in all transcripts   IGV
HGNC symbol XXYLT1
Ensembl transcript ID ENST00000310380
Genbank transcript ID NM_152531
UniProt peptide N/A
alteration type single base exchange
alteration region intron
DNA changes g.149112G>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS		 N/A
frameshift N/A
known variant Reference ID: rs60922537
databasehomozygous (G/G)heterozygousallele carriers
1000G3519981349
ExAC35321562509
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-0.5150
-1.5010
(flanking)1.0110.001
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 increased149103wt: 0.3095 / mu: 0.3389 (marginal change - not scored)wt: GAATCAGTGGGCACG
mu: GAATCAGTGGGCACC		 ATCA|gtgg
distance from splice site 34393
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 110 / 110
chromosome 3
strand -1
last intron/exon boundary 895
theoretical NMD boundary in CDS 735
length of CDS 1182
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)		 149112
chromosomal position
(for ins/del: last normal base / first normal base)		 194842785
original gDNA sequence snippet GACACAGAATCAGTGGGCACGTTGGTCTTGGACTTCCCAGC
altered gDNA sequence snippet GACACAGAATCAGTGGGCACCTTGGTCTTGGACTTCCCAGC
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MGLLRGGLPC ARAMARLGAV RSHYCALLLA AALAVCAFYY LGSGRETFSS ATKRLKEARA
GAPAAPSPPA LELARGSVAP APGAKAKSLE GGGAGPVDYH LLMMFTKAEH NAALQAKARV
ALRSLLRLAK FEAHEVLNLH FVSEEASREV AKGLLRELLP PAAGFKCKVI FHDVAVLTDK
LFPIVEAMQK HFSAGLGTYY SDSIFFLSVA MHQIMPKEIL QIIQLDLDLK FKTNIRELFE
EFDSFLPGAI IGIAREMQPV YRHTFWQFRH ENPQTRVGGP PPEGLPGFNS GVMLLNLEAM
RQSPLYSRLL EPAQVQQLAD KYHFRGHLGD QDFFTMIGME HPKLFHVLDC TWNRQLCTWW
RDHGYSDVFE AYFRCEGHVK IYHGNCNTPI PED*
mutated AA sequence N/A
speed 0.97 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