Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999998718 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • homozygous in TGP or ExAC
 hyperlink
analysed issue analysis result
name of alteration no title
alteration (phys. location) chr6:10687746G>TN/A show variant in all transcripts   IGV
HGNC symbol C6orf52
Ensembl transcript ID ENST00000259983
Genbank transcript ID NM_001145020
UniProt peptide Q5T4I8
alteration type single base exchange
alteration region CDS
DNA changes c.38C>A
cDNA.162C>A
g.7285C>A
AA changes A13D Score: 126 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 13
frameshift no
known variant Reference ID: rs7749306
databasehomozygous (T/T)heterozygousallele carriers
1000G412391803
ExAC55612901846
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)0.0070.001
0.3870.001
(flanking)-0.3450
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 increased7288wt: 0.9826 / mu: 0.9839 (marginal change - not scored)wt: AGCTCAACAAAATAA
mu: AGATCAACAAAATAA		 CTCA|acaa
distance from splice site 34
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      13AQPESSADFGIAQQNNYYCYWQSL
mutated  not conserved    13AQPESSADFGIDQQNNYYCYWQS
Ptroglodytes  all identical  ENSPTRG00000017718  13AQPQSSADFGIAQQNNYYCYWQS
Mmulatta  no alignment  ENSMMUG00000018786  n/a
Fcatus  no homologue    
Mmusculus  no homologue    
Ggallus  no alignment  ENSGALG00000001310  n/a
Trubripes  no homologue    
Drerio  no alignment  ENSDARG00000036015  n/a
Dmelanogaster  not conserved  FBgn0031607  190KPKSELGGAVGEGNTNYGYGSG
Celegans  no alignment  T07F10.3  n/a
Xtropicalis  no alignment  ENSXETG00000014263  n/a
protein features no protein features affected
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 459 / 459
position (AA) of stopcodon in wt / mu AA sequence 153 / 153
position of stopcodon in wt / mu cDNA 583 / 583
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 125 / 125
chromosome 6
strand -1
last intron/exon boundary 441
theoretical NMD boundary in CDS 266
length of CDS 459
coding sequence (CDS) position 38
cDNA position
(for ins/del: last normal base / first normal base)		 162
gDNA position
(for ins/del: last normal base / first normal base)		 7285
chromosomal position
(for ins/del: last normal base / first normal base)		 10687746
original gDNA sequence snippet TTCTGCAGATTTTGGCATAGCTCAACAAAATAACTATTACT
altered gDNA sequence snippet TTCTGCAGATTTTGGCATAGATCAACAAAATAACTATTACT
original cDNA sequence snippet TTCTGCAGATTTTGGCATAGCTCAACAAAATAACTATTACT
altered cDNA sequence snippet TTCTGCAGATTTTGGCATAGATCAACAAAATAACTATTACT
wildtype AA sequence MAQPESSADF GIAQQNNYYC YWQSLPSAIR VKQEFQPSQS YRYGNWYARQ HGSYLLSGYS
YGCAVDGNGK DCFSAHETPE HTAGTLVMPK ETTPLAENQD EDPLEDPHLH LNIEESNQEF
MVKSEELYDS LMNCHWQPLD TVHSEIPDET PK*
mutated AA sequence MAQPESSADF GIDQQNNYYC YWQSLPSAIR VKQEFQPSQS YRYGNWYARQ HGSYLLSGYS
YGCAVDGNGK DCFSAHETPE HTAGTLVMPK ETTPLAENQD EDPLEDPHLH LNIEESNQEF
MVKSEELYDS LMNCHWQPLD TVHSEIPDET PK*
speed 1.48 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