Yum, tasty mutations...

mutation t@sting

 documentation

Prediction

polymorphism

 Model: simple_aae, prob: 0.999999999999986 (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) chr9:117103973A>GN/A show variant in all transcripts   IGV
HGNC symbol AKNA
Ensembl transcript ID ENST00000223791
Genbank transcript ID N/A
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.2287T>C
cDNA.3112T>C
g.52713T>C
AA changes S763P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 763
frameshift no
known variant Reference ID: rs2250242
databasehomozygous (G/G)heterozygousallele carriers
1000G101810202038
ExAC17473-217915294
regulatory features H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
H4K20me1, Histone, Histone 4 Lysine 20 mono-methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)1.1080.007
00
(flanking)-0.1210
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Donor increased52714wt: 0.55 / mu: 0.84wt: AGCATCTTCAACTCC
mu: AGCACCTTCAACTCC		 CATC|ttca
Donor marginally increased52704wt: 0.9988 / mu: 0.9988 (marginal change - not scored)wt: CGAGGAGAAAAGCAT
mu: CGAGGAGAAAAGCAC		 AGGA|gaaa
distance from splice site 33
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      763GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    763GAEKATTRRKAPSTPSPKQRSKQ
Ptroglodytes  not conserved  ENSPTRG00000021288  1250GAEKATTRRKAPSTPSPKQRSKQ
Mmulatta  not conserved  ENSMMUG00000008018  1303GAEKATKRRKAPSTPSPKQRSKQ
Fcatus  no homologue    
Mmusculus  not conserved  ENSMUSG00000039158  1276--EKNTP--KKPSTPILKRKNRQ
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 
771804REGIONPEST.might get lost (downstream of altered splice site)
799799CONFLICTD -> V (in Ref. 3; BAD18725/BAC85132).might get lost (downstream of altered splice site)
816816CONFLICTR -> S (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
839839MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
848848MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
911932REGIONPEST.might get lost (downstream of altered splice site)
10371037CONFLICTL -> F (in Ref. 6; AAK83024).might get lost (downstream of altered splice site)
11031103CONFLICTP -> Q (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
11141114CONFLICTA -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
11151123DNA_BINDA.T hook.might get lost (downstream of altered splice site)
14291429CONFLICTQ -> P (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
14351436CONFLICTGS -> AP (in Ref. 3; BAD18725).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 2700 / 2700
position (AA) of stopcodon in wt / mu AA sequence 900 / 900
position of stopcodon in wt / mu cDNA 3525 / 3525
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 826 / 826
chromosome 9
strand -1
last intron/exon boundary 3273
theoretical NMD boundary in CDS 2397
length of CDS 2700
coding sequence (CDS) position 2287
cDNA position
(for ins/del: last normal base / first normal base)		 3112
gDNA position
(for ins/del: last normal base / first normal base)		 52713
chromosomal position
(for ins/del: last normal base / first normal base)		 117103973
original gDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered gDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
original cDNA sequence snippet CCACCACGAGGAGAAAAGCATCTTCAACTCCCAGCCCCAAG
altered cDNA sequence snippet CCACCACGAGGAGAAAAGCACCTTCAACTCCCAGCCCCAAG
wildtype AA sequence MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KASSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
mutated AA sequence MPTLGWLPEN RDISEDQSSA EQTQALASQA SQFLAKVESF ERLIQAGRLM PQDQVKGFQR
LKAAHAALEE EYLKACREQH PAQPLAGSKG TPGRFDPRRE LEAEIYRLGS CLEELKEHID
QTQQEPEPPG SDSALDSTPA LPCLHQPTHL PAPSGQAPMP AIKTSCPEPA TTTAAASTGP
CPLHVNVEVS SGNSEVEDRP QDPLARLRHK ELQMEQVYHG LMERYLSVKS LPEAMRMEEE
EEGEEEEEEE GGGDSLEVDG VAATPGKAEA TRVLPRQCPV QAEKSHGAPL EEATEKMVSM
KPPGFQASLA RDGHMSGLGK AEAAPPGPGV PPHPPGTKSA ASHQSSMTSL EGSGISERLP
QKPLHRGGGP HLEETWMASP ETDSGFVGSE TSRVSPLTQT PEHRLSHIST AGTLAQPFAA
SVPRDGASYP KARGSLIPRR ATEPSTPRSQ AQRYLSSPSG PLRQRAPNFS LERTLAAEMA
VPGSEFEGHK RISEQPLPNK TISPPPAPAP AAAPLPCGPT ETIPSFLLTR AGRDQAICEL
QEEVSRLRLR LEDSLHQPLQ GSPTRPASAF DRPARTRGRP ADSPATWGSH YGSKSTERLP
GEPRGEEQIV PPGRQRARSS SVPREVLRLS LSSESELPSL PLFSEKSKTT KDSPQAARDG
KRGVGSAGWP DRVTFRGQYT GHEYHVLSPK AVPKGNGTVS CPHCRPIRTQ DAGGAVTGDP
LGPPPADTLQ CPLCGQVGSP PEADGPGSAT SGAEKATTRR KAPSTPSPKQ RSKQAGSSPR
PPPGLWYLAT APPAPAPPAF AYISSVPIMP YPPAAVYYAP AGPTSAQPAA KWPPTASPPP
ARRHRHSIQL DLGDLEELNK ALSRAVQAAE SVRSTTRQMR SSLSADLRQA HSLRGSCLF*
speed 0.71 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