Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999785 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • amino acid sequence changed
  • 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) chr10:134748331C>TN/A show variant in all transcripts   IGV
HGNC symbol CFAP46
Ensembl transcript ID ENST00000368585
Genbank transcript ID N/A
UniProt peptide Q8IYW2
alteration type single base exchange
alteration region CDS
DNA changes c.791G>A
cDNA.1130G>A
g.7997G>A
AA changes S264N Score: 46 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 264
frameshift no
known variant Reference ID: rs12781609
databasehomozygous (T/T)heterozygousallele carriers
1000G36711361503
ExAC102951217722472
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.0760
-1.0340
(flanking)-1.6030
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased7993wt: 0.70 / mu: 0.95wt: GTGACATCAGTGTCA
mu: GTGACATCAATGTCA		 GACA|tcag
distance from splice site 36
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      264KAEQNDLPGDISVILRKAYRHLGH
mutated  all conserved    264KAEQNDLPGDINVILRKAYRHLG
Ptroglodytes  no homologue    
Mmulatta  all identical  ENSMMUG00000007072  264KAEQNDLPGDVSVILRKAYRHLS
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000049571  264KLDKNNLPENLEQILRKMYRDLS
Ggallus  no homologue    
Trubripes  no homologue    
Drerio  no homologue    
Dmelanogaster  no homologue    
Celegans  no homologue    
Xtropicalis  no homologue    
protein features
start (aa)end (aa)featuredetails 
261295REPEATTPR 3.lost
324359REPEATTPR 4.might get lost (downstream of altered splice site)
426459REPEATTPR 5.might get lost (downstream of altered splice site)
469503REPEATTPR 6.might get lost (downstream of altered splice site)
807845REPEATTPR 7.might get lost (downstream of altered splice site)
936969REPEATTPR 8.might get lost (downstream of altered splice site)
11111144REPEATTPR 9.might get lost (downstream of altered splice site)
11741211REPEATTPR 10.might get lost (downstream of altered splice site)
13621401COILEDPotential.might get lost (downstream of altered splice site)
16391672REPEATTPR 11.might get lost (downstream of altered splice site)
17811810COILEDPotential.might get lost (downstream of altered splice site)
23992432REPEATTPR 12.might get lost (downstream of altered splice site)
25042537REPEATTPR 13.might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 1218 / 1218
position (AA) of stopcodon in wt / mu AA sequence 406 / 406
position of stopcodon in wt / mu cDNA 1557 / 1557
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 340 / 340
chromosome 10
strand -1
last intron/exon boundary 1206
theoretical NMD boundary in CDS 816
length of CDS 1218
coding sequence (CDS) position 791
cDNA position
(for ins/del: last normal base / first normal base)		 1130
gDNA position
(for ins/del: last normal base / first normal base)		 7997
chromosomal position
(for ins/del: last normal base / first normal base)		 134748331
original gDNA sequence snippet TGATTTACCAGGTGACATCAGTGTCATTCTGAGGAAGGCCT
altered gDNA sequence snippet TGATTTACCAGGTGACATCAATGTCATTCTGAGGAAGGCCT
original cDNA sequence snippet TGATTTACCAGGTGACATCAGTGTCATTCTGAGGAAGGCCT
altered cDNA sequence snippet TGATTTACCAGGTGACATCAATGTCATTCTGAGGAAGGCCT
wildtype AA sequence MDLVITQELA RAESQQDAAS LKKAYELIKS ANLGKSEFDP SESFSPDLFV LCAEQALKMR
QPEVSEDCIQ MYFKVKAPIT QFLGRAHLCR AQMCAPKSAE NLEEFENCVT EYMKAINFAK
GEPRYYFLVY NASVLYWQMV RPFLKPGYRH HLIPSLSQII NVLSQTEEED KEWRAELMLE
LLECYLQAGR KEEAARFCST AAPFIKSHVP QKYRQIFSVM VRHELMDELQ LKEEKKNSIS
LSVTFYINML KAKAEQNDLP GDISVILRKA YRHLGHYNHQ RFPSISEEKM LLLFELARFS
LTLKCMEISS ACLSDLKKME SKVSGFMTLL PGDEALLTVQ LDKRQRKEEQ FTRPRPPGLR
SVVGTLPSFL PVFCTVAVRW CLQFYTCPFL FTFLVATGPQ HHSCF*
mutated AA sequence MDLVITQELA RAESQQDAAS LKKAYELIKS ANLGKSEFDP SESFSPDLFV LCAEQALKMR
QPEVSEDCIQ MYFKVKAPIT QFLGRAHLCR AQMCAPKSAE NLEEFENCVT EYMKAINFAK
GEPRYYFLVY NASVLYWQMV RPFLKPGYRH HLIPSLSQII NVLSQTEEED KEWRAELMLE
LLECYLQAGR KEEAARFCST AAPFIKSHVP QKYRQIFSVM VRHELMDELQ LKEEKKNSIS
LSVTFYINML KAKAEQNDLP GDINVILRKA YRHLGHYNHQ RFPSISEEKM LLLFELARFS
LTLKCMEISS ACLSDLKKME SKVSGFMTLL PGDEALLTVQ LDKRQRKEEQ FTRPRPPGLR
SVVGTLPSFL PVFCTVAVRW CLQFYTCPFL FTFLVATGPQ HHSCF*
speed 0.13 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