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 ENST00000374075
Genbank transcript ID N/A
UniProt peptide Q7Z591
alteration type single base exchange
alteration region CDS
DNA changes c.3664T>C
cDNA.3736T>C
g.52713T>C
AA changes S1222P Score: 74 explain score(s)
position(s) of altered AA
if AA alteration in CDS		 1222
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      1222GAEKATTRRKASSTPSPKQRSKQA
mutated  not conserved    1222GAEKATTRRKAPSTPSPKQRSKQ
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 
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 4077 / 4077
position (AA) of stopcodon in wt / mu AA sequence 1359 / 1359
position of stopcodon in wt / mu cDNA 4149 / 4149
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 73 / 73
chromosome 9
strand -1
last intron/exon boundary 3897
theoretical NMD boundary in CDS 3774
length of CDS 4077
coding sequence (CDS) position 3664
cDNA position
(for ins/del: last normal base / first normal base)		 3736
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 MLRSEWPVFP EAEAEDVDSP ASSHEPLAWL PQQGRQLDMT EEEPDGTLGS LEVEEAGESS
SRLGYEAGLS LEGHGNTSPM ALGHGQARGW VASGEQASGD KLSEHSEVNP SVELSPARSW
SSGTVSLDHP SDSLDSTWEG ETDGPQPTAL AETLPEGPSH HLLSPDGRTG GSVARATPME
FQDSSAPPAQ SPQHATDRWR RETTRFFCPQ PKEHIWKQTK TSPKPLPSRF IGSISPLNPQ
PRPTRQGRPL PRQGATLAGR SSSNAPKYGR GQLNYPLPDF SKVGPRVRFP KDESYRPPKS
RSHNRKPQAP ARPLIFKSPA EIVQEVLLSS GEAALAKDTP PAHPITRVPQ EFQTPEQATE
LVHQLQEDYH RLLTKYAEAE NTIDQLRLGA KVNLFSDPPQ PNHSIHTGMV PQGTKVLSFT
IPQPRSAEWW PGPAEDPQAS AASGWPSARG DLSPSSLTSM PTLGWLPENR DISEDQSSAE
QTQALASQAS QFLAKVESFE RLIQAGRLMP QDQVKGFQRL KAAHAALEEE YLKACREQHP
AQPLAGSKGT PGRFDPRREL EAEIYRLGSC LEELKEHIDQ TQQEPEPPGS DSALDSTPAL
PCLHQPTHLP APSGQAPMPA IKTSCPEPAT TTAAASTGPC PLHVNVEVSS GNSEVEDRPQ
DPLARLRHKE LQMEQVYHGL MERYLSVKSL PEAMRMEEEE EGEEEEEEEG GGDSLEVDGV
AATPGKAEAT RVLPRQCPVQ AEKSHGAPLE EATEKMVSMK PPGFQASLAR DGHMSGLGKA
EAAPPGPGVP PHPPGTKSAA SHQSSMTSLE GSGISERLPQ KPLHRGGGPH LEETWMASPE
TDSGFVGSET SRVSPLTQTP EHRLSHISTA GTLAQPFAAS VPRDGASYPK ARGSLIPRRA
TEPSTPRSQA QRYLSSPSGP LRQRAPNFSL ERTLAAEMAV PGSEFEGHKR ISEQPLPNKT
ISPPPAPAPA AAPLPCGPTE TIPSFLLTRA GRDQAICELQ EEVSRLRLRL EDSLHQPLQG
SPTRPASAFD RPARTRGRPA DSPATWGSHY GSKSTERLPG EPRGEEQIVP PGRQRARSSS
VPREVLRLSL SSESELPSLP LFSEKSKTTK DSPQAARDGK RGVGSAGWPD RVTFRGQYTG
HEYHVLSPKA VPKGNGTVSC PHCRPIRTQD AGGAVTGDPL GPPPADTLQC PLCGQVGSPP
EADGPGSATS GAEKATTRRK ASSTPSPKQR SKQAGSSPRP PPGLWYLATA PPAPAPPAFA
YISSVPIMPY PPAAVYYAPA GPTSAQPAAK WPPTASPPPA RRHRHSIQLD LGDLEELNKA
LSRAVQAAES VRSTTRQMRS SLSADLRQAH SLRGSCLF*
mutated AA sequence MLRSEWPVFP EAEAEDVDSP ASSHEPLAWL PQQGRQLDMT EEEPDGTLGS LEVEEAGESS
SRLGYEAGLS LEGHGNTSPM ALGHGQARGW VASGEQASGD KLSEHSEVNP SVELSPARSW
SSGTVSLDHP SDSLDSTWEG ETDGPQPTAL AETLPEGPSH HLLSPDGRTG GSVARATPME
FQDSSAPPAQ SPQHATDRWR RETTRFFCPQ PKEHIWKQTK TSPKPLPSRF IGSISPLNPQ
PRPTRQGRPL PRQGATLAGR SSSNAPKYGR GQLNYPLPDF SKVGPRVRFP KDESYRPPKS
RSHNRKPQAP ARPLIFKSPA EIVQEVLLSS GEAALAKDTP PAHPITRVPQ EFQTPEQATE
LVHQLQEDYH RLLTKYAEAE NTIDQLRLGA KVNLFSDPPQ PNHSIHTGMV PQGTKVLSFT
IPQPRSAEWW PGPAEDPQAS AASGWPSARG DLSPSSLTSM PTLGWLPENR DISEDQSSAE
QTQALASQAS QFLAKVESFE RLIQAGRLMP QDQVKGFQRL KAAHAALEEE YLKACREQHP
AQPLAGSKGT PGRFDPRREL EAEIYRLGSC LEELKEHIDQ TQQEPEPPGS DSALDSTPAL
PCLHQPTHLP APSGQAPMPA IKTSCPEPAT TTAAASTGPC PLHVNVEVSS GNSEVEDRPQ
DPLARLRHKE LQMEQVYHGL MERYLSVKSL PEAMRMEEEE EGEEEEEEEG GGDSLEVDGV
AATPGKAEAT RVLPRQCPVQ AEKSHGAPLE EATEKMVSMK PPGFQASLAR DGHMSGLGKA
EAAPPGPGVP PHPPGTKSAA SHQSSMTSLE GSGISERLPQ KPLHRGGGPH LEETWMASPE
TDSGFVGSET SRVSPLTQTP EHRLSHISTA GTLAQPFAAS VPRDGASYPK ARGSLIPRRA
TEPSTPRSQA QRYLSSPSGP LRQRAPNFSL ERTLAAEMAV PGSEFEGHKR ISEQPLPNKT
ISPPPAPAPA AAPLPCGPTE TIPSFLLTRA GRDQAICELQ EEVSRLRLRL EDSLHQPLQG
SPTRPASAFD RPARTRGRPA DSPATWGSHY GSKSTERLPG EPRGEEQIVP PGRQRARSSS
VPREVLRLSL SSESELPSLP LFSEKSKTTK DSPQAARDGK RGVGSAGWPD RVTFRGQYTG
HEYHVLSPKA VPKGNGTVSC PHCRPIRTQD AGGAVTGDPL GPPPADTLQC PLCGQVGSPP
EADGPGSATS GAEKATTRRK APSTPSPKQR SKQAGSSPRP PPGLWYLATA PPAPAPPAFA
YISSVPIMPY PPAAVYYAPA GPTSAQPAAK WPPTASPPPA RRHRHSIQLD LGDLEELNKA
LSRAVQAAES VRSTTRQMRS SLSADLRQAH SLRGSCLF*
speed 1.08 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