Yum, tasty mutations...

MutationTaster - study a chromosomal position

MTQE documentation
NEVER press reload or F5 - unless you want to start from the very beginning.
input seems to be ok - now mapping the variant to the different transcripts...
found 2 transcript(s)...
Querying Taster for transcript #1: ENST00000557457
Querying Taster for transcript #2: ENST00000333244
MT speed 2.76 s - this script 6.350602 s

Results


genesymbolpredictionprobabilitymodelprediction
problem
splicingClinVaramino acid changesvariant typedbSNP IDprotein lengthfile
AHNAK2polymorphism_automatic2.99760216648792e-15simple_aaeaffectedV3363Asingle base exchangers4264326show file
AHNAK2polymorphism_automatic2.62133926010044e-07without_aaeaffectedsingle base exchangers4264326show file

Taster files

Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: simple_aae, prob: 0.999999999999997 (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) chr14:105411700A>GN/A show variant in all transcripts   IGV
HGNC symbol AHNAK2
Ensembl transcript ID ENST00000333244
Genbank transcript ID NM_138420
UniProt peptide Q8IVF2
alteration type single base exchange
alteration region CDS
DNA changes c.10088T>C
cDNA.10208T>C
g.32995T>C
AA changes V3363A Score: 64 explain score(s)
position(s) of altered AA
if AA alteration in CDS
3363
frameshift no
known variant Reference ID: rs4264326
databasehomozygous (G/G)heterozygousallele carriers
1000G81511922007
ExAC18668-456914099
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.9790
0.4720
(flanking)-1.0180
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites
effectgDNA positionscorewt detection sequence exon-intron border
Acc marginally increased32995wt: 0.9595 / mu: 0.9641 (marginal change - not scored)wt: CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
mu: CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG
 ctgt|GGAC
Acc marginally increased33002wt: 0.2804 / mu: 0.2934 (marginal change - not scored)wt: CAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTGGCCAGGT
mu: CAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTGGCCAGGT
 cctg|GAGG
Acc marginally increased32997wt: 0.9446 / mu: 0.9458 (marginal change - not scored)wt: GCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTGGC
mu: GCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTGGC
 gtgg|ACCT
Acc increased32992wt: 0.30 / mu: 0.44wt: CCTCAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGG
mu: CCTCAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGG
 cttc|TGTG
Donor increased32999wt: 0.24 / mu: 0.45wt: GTGGACCTGGAGGTC
mu: GCGGACCTGGAGGTC
 GGAC|ctgg
distance from splice site 8047
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
speciesmatchgeneaaalignment
Human      3363KTTDLSIQLPSVDLEVQAGQVDVK
mutated  not conserved    3363PSADLEVQAGQVDV
Ptroglodytes  not conserved  ENSPTRG00000030658  1559KTTDLSIQPPSADLEVQAGQVDV
Mmulatta  not conserved  ENSMMUG00000010579  253ASMSLQLPEADAEVTASESKSSTDV
Fcatus  no homologue    
Mmusculus  no alignment  ENSMUSG00000072812  n/a
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 
47404740CONFLICTE -> G (in Ref. 5; CAD98019).might get lost (downstream of altered splice site)
52695269CONFLICTL -> P (in Ref. 5; CAD98019).might get lost (downstream of altered splice site)
55605560CONFLICTD -> G (in Ref. 5; CAD97904).might get lost (downstream of altered splice site)
55775577CONFLICTI -> V (in Ref. 5; CAD97904).might get lost (downstream of altered splice site)
55905590CONFLICTT -> A (in Ref. 5; CAD97981).might get lost (downstream of altered splice site)
56015601CONFLICTD -> G (in Ref. 5; CAD98034).might get lost (downstream of altered splice site)
length of protein normal
AA sequence altered yes
position of stopcodon in wt / mu CDS 17388 / 17388
position (AA) of stopcodon in wt / mu AA sequence 5796 / 5796
position of stopcodon in wt / mu cDNA 17508 / 17508
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 121 / 121
chromosome 14
strand -1
last intron/exon boundary 772
theoretical NMD boundary in CDS 601
length of CDS 17388
coding sequence (CDS) position 10088
cDNA position
(for ins/del: last normal base / first normal base)
10208
gDNA position
(for ins/del: last normal base / first normal base)
32995
chromosomal position
(for ins/del: last normal base / first normal base)
105411700
original gDNA sequence snippet CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
altered gDNA sequence snippet CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG
original cDNA sequence snippet CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
altered cDNA sequence snippet CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG
wildtype AA sequence MCDCFHMVLP TWPGTPGSVS GRQLQPGEPG AETEDDHSVT EGPADEGIRP RPQGSSPVYE
YTTEAADFGL QEDAPGRQGS AGRRRSWWKR DSGDSRTFFR MSRPEAVQEA TEVTLKTEVE
AGASGYSVTG GGDQGIFVKQ VLKDSSAAKL FNLREGDQLL STTVFFENIK YEDALKILQY
SEPYKVQFKI RRQLPAPQDE EWASSDAQHG PQGKEKEDTD VADGCRETPT KTLEGDGDQE
RLISKPRVGR GRQSQRERLS WPKFQSIKSK RGPGPQRSHS SSEAYEPRDA HDVSPTSTDT
EAQLTVERQE QKAGPGSQRR RKFLNLRFRT GSGQGPSSTG QPGRGFQSGV GRAGVLEELG
PWGDSLEETG AATGSRREER AEQDREVMPA QSMPLPTELG DPRLCEGTPQ EGGLRAARLH
GKTLEGQAQE TAVAQRKPRA QPTPGMSREG EGEGLQSLEI GIARLSLRDT TEGGTQIGPP
EIRVRVHDLK TPKFAFSTEK EPERERRLST PQRGKRQDAS SKAGTGLKGE EVEGAGWMPG
REPTTHAEAQ GDEGDGEEGL QRTRITEEQD KGREDTEGQI RMPKFKIPSL GWSPSKHTKT
GREKATEDTE QGREGEATAT ADRREQRRTE EGLKDKEDSD SMTNTTKIQL IHDEKRLKKE
QILTEKEVAT KDSKFKMPKF KMPLFGASAP GKSMEASVDV SAPKVEADVS LLSMQGDLKT
TDLSVQTPSA DLEVQDGQVD VKLPEGPLPE GASLKGHLPK VQRPSLKMPK VDLKGPKLDL
KGPKAEVTAP DVKMSLSSME VDVQAPRAKL DGARLEGDLS LADKEVTAKD SKFKMPKFKM
PSFGVSAPGK SMEDSVDVSA PKVEADVSLS SMQGDLKATD LSIQPPSADL EVQAGQVDVK
LPEGPVPEGA GPKVHLPKVE MPSFKMPKVD LKGPQIDVKG PKLDLKGPKA EVTAPDGEVS
LPSMEVDVQA QKAKLDGAWL EGDLSLADKD VTAKDSKFKM PKFKMPSFGV SAPGKSIKAL
VDVSAPKVEA DLSLPSMQGD LKTTDLSIQP ASTDLKVQAD QVDVKLPEGH LPEGAGLKGH
LPKVEMPSFK MPKVALKGPQ VDVKGPKLDL KSPKAEVTAP DVEVSLPSVE VDVEAPGAKL
DSARLEGELS LADKDVTAKD SRFKMPKFKM PSFGASAPGK SIEASVDVSA PKVEADVSLP
SMQGDLKTTD LSIQPPSADL EVHAGQVDVK LLEGHVPEGA GFKGHLPKVQ MPSLKMPKVD
LKGPQVEVRG PKLDLKGHKA EVTAHEVAVS LPSVEVDMQA PGAKLDGAQL DGDLSLADKD
VTAKDSKFKM PKFKMPSFGV SAPGKSIEAS VDLSAPKVEA DMSLPSMQGD LKTTDLSIQP
PSTDLELQAG QLDVKLPEGP VPEGAGLKGH LPKLQMPSFK VPKVDLKGPE IDIKGPKLDL
KDPKVEVTAP DVEVSLPSVE VDVEAPGAKL DGGRLEEDMS LADKDLTTKD SKFKMPKFKM
PSFGVSAPGK SIEASVDVSA PKVEADVSLP SMQGDLKATD LSIQPPSADL EVQAGQVDVK
LPEGPVSEGA GLKGHLPKVQ MPSFKMPKVD LKGPQIDVKG PKLDLKGPKV EVTAPDVKMS
LSSMEVDVQA PRAKLDGAQL EGDLSLADKA VTAKDSKFKM PKFKMPSFGV SAPGKSIEAS
VDVSEPKVEA DVSLPSMQGD LKTTDLSIQS PSADLEVQAG QVNVKLPEGP LPEGAGFKGH
LPKVQMPSLK MPKVALKGPQ MDVKGPKLDL KGPKAEVMAP DVEVSLPSVE VDVEAPGAKL
DSVRLEGDLS LADKDVTAKD SKFKMPKFKM PSFGVSAPGK SIEASVDVSA PKVEAEVSLP
SMQGDLKTTD LCIPLPSADL VVQAGQVDMK LPEGQVPEGA GLKGHLPKVD MPSFKMPKVD
LKGPQTDVKG AKLDLKGPKA EVTAPDVEVS LPSMEVDVQA QKAKLDGARL EGDLSLADKD
MTAKDSKFKM PKFKMPSFGV SAPGRSIEAS VDVPAPKVEA DVSLPSMQGD LKTTDLSIQP
PSADLKVQTG QVDVKLPEGH VPEGAGLKGH LPKVEMPSLK MPKVDLKGPQ VDIKGPKLDL
KDPKVEMRVP DVEVSLPSME VDVQAPRAKL DSAHLQGDLT LANKDLTTKD SKFKMPKFKM
PSFGVSAPGK SIEASVDVSP PKVEADMSLP SMQGDLKTTD LSIQPLSADV KVQAGQVDVK
LLEGPVPEEV GLKGHLPKLQ MPSFKVPKVD LKGPEIDIKG PKLDLKDPKV EVTAPDVEVS
LPSVEVDVKA PGAKLDGARL EGDMSLADKD VTAKDSKFKM PKFKMLSFGV SALGKSIEAS
ADVSALKVEA DVSLPSMQGD LKTTDLSVQP PSADLEVQAG QVDVKLPEGP VPEGAGLKGH
LPKLQMPSFK MPKVDLKGPQ IDVKGPKLDL KGPKTDVMAP DVEVSQPSVE VDVEAPGAKL
DGAWLEGDLS VADKDVTTKD SRFKIPKFKM PSFGVSAPGK SIEASVDVSA PKVEADGSLS
SMQGDLKATD LSIQPPSADL EVQAGQVDVK LPEGPVPEGA GLKGHLPKVQ MPSFKMPEMD
LKGPQLDVKG PKLDLKGPKA EVTAPDVEMS LSSMEVDVQA PRAKLDGARL EGDLSLADKG
VTAKDSKFKM PKFKMPSFRV SAPGESIEAL VDVSELKVEA DMSLPSMQGD LKTTDISIQP
PSAQLEVQAG QVDVKLPEGH VPEGAGLKGH LPKLQMPSFK MPEVDLKGPQ IDVKGPNVDL
KGPKAEVTAP DVKMSLSSME VDVQAPRAKL DGARLEGDLS LADKGMTAKD SKFKMPKFKM
PSFGVSAPGK SIEASVDVSE LKVEADGSFP SMQGDLKTTD IRIQPPSAQL EVQAGQVDVK
LPEGHVPEGA GLKGHLPKVQ MPSFKMPKVD LKGPQIDVKG PKLDLKGPKA EVTAPDVEVS
LPSVEVDVEA PRAKLDGARL EGDLSLADKD VTAKDSKFKM PKFKMPSFGV SAPGKSIEVS
VDVSAPKVEA EVSLPSMQGD LKTTDISIEP PSAQLEVQAG QVDLKLPEGH VPEGAGLKGH
LPKLQMPSFK MPKVDRKGPQ IDVKGPKLDL KGPKTDVTAP DVEVSQPGME VDVEAPGAKL
DGARLEGDLS LADKDVTAKD SKFKMPKFKM PSFGVSAPGK SIEVLVDVSA PKVEADLSLP
SMQGDLKNTD ISIEPPSAQL EVQAGQVDVK LPEGHVLEGA GLKGHLPKLQ MPSFKMPKVD
RKGPQIDIKG PKLDLKGPKM DVTAPDVEVS QPSMEVDVEA PGAKLDGARL EGDLSLADKD
VTAKDSKFKM PKFKMPSYRA SAPGKSIQAS VDVSAPKAEA DVSLPSMQGD LKTTDLSIQL
PSVDLEVQAG QVDVKLPEGH VPEGAGLKGH LPKVEMPSFK MPKVDLKSPQ VDIKGPKLDL
KVPKAEVTVP DVEVSLPSVE VDVQAPRAKL DGARLEGDLS LAEKDVTAKD SKFKMPKFKM
PSFGVSAPGR SIEASLDVSA PKVEADVSLS SMQGDLKATD LSIQPPSADL EVQAVQVDVE
LLEGPVPEGA GLKGHLPKVE MPSLKTPKVD LKGPQIDVKG PKLDLKGPKA EVRVPDVEVS
LPSVEVDVQA PKAKLDAGRL EGDLSLADKD VTAKDSKFKM PKFKMPSFRV SAPGKSMEAS
VDVSAPKVEA DVSLPSMQGD LKTTDLSIQP PSADLKVQAG QMDVKLPEGQ VPEGAGLKEH
LPKVEMPSLK MPKVDLKGPQ VDIKGPKLDL KVSKAEVTAP DVEVSLPSVE VDVQAPRAKL
DSAQLEGDLS LADKDVTAKD SKFKMPKFKM PSFGVSAPGK SIEASVHVSA PKVEADVSLP
SMQGDLKTTD LSIQPHSADL TVQARQVDMK LLEGHVPEEA GLKGHLPKVQ MPSFKMPKVD
LKGPEIDIKG PKLDLKDPKV EVTAPDVEVS LPSVEVDVEA PGAKLDGARL EGDLSLADKD
MTAKDSKFKM PKFKMPSFGV SAPGKSMEAS VDVTAPKVEA DVSLPSMQGD LKATDLSVQP
PSADLEVQAG QVDVKLPEGP VPEGASLKGH LPKVQMPSFK MPKVDLKGPQ IDVKGPKLDL
KGPKAEVTAP DVKMSLSSME VDVQAPRAKL DGVQLEGDLS LADKDVTAKD SKFKMPKFKM
PSFGVSAPGK SMEASVDVSE LKAKADVSLP SMQGDLKTTD LSIQSPSADL EVQAGQVDVK
LPEGPLPKGA GLKGHLPKVQ MPCLKMPKVA LKGPQVDVKG PKLDLKGPKA DVMTPVVEVS
LPSMEVDVEA PGAKLDSVRL EGDLSLADKD MTAKDSKFKM PKFKMPSFGV SAPGKSIEAS
LDVSALKVEA DVSLPSMQGD LKTTHLSIQP PSADLEVQAG QEDVKLPEGP VHEGAGLKGH
LPKLQMPSFK VPKVDLKGPQ IDVNVPKLDL KGPKVEVTSP NLDVSLPSME VDIQAPGAKL
DSTRLEGDLS LADKDVTAKD SKFKMPKFKM PSFGMLSPGK SIEVSVDVSA PKMEADMSIP
SMQGDLKTTD LRIQAPSADL EVQAGQVDLK LPEGHMPEVA GLKGHLPKVE MPSFKMPKVD
LKGPQVDVKG PKLDLKGPKA EVMAPDVEVS LPSVETDVQA PGSMLDGARL EGDLSLAHED
VAGKDSKFQG PKLSTSGFEW SSKKVSMSSS EIEGNVTFHE KTSTFPIVES VVHEGDLHDP
SRDGNLGLAV GEVGMDSKFK KLHFKVPKVS FSSTKTPKDS LVPGAKSSIG LSTIPLSSSE
CSSFELQQVS ACSEPSMQMP KVGFAGFPSS RLDLTGPHFE SSILSPCEDV TLTKYQVTVP
RAALAPELAL EIPSGSQADI PLPKTECSTD LQPPEGVPTS QAESHSGPLN SMIPVSLGQV
SFPKFYKPKF VFSVPQMAVP EGDLHAAVGA PVMSPLSPGE RVQCPLPSTQ LPSPGTCVSQ
GPEELVASLQ TSVVAPGEAP SEDADHEGKG SPLKMPKIKL PSFRWSPKKE TGPKVDPECS
VEDSKLSLVL DKDEVAPQSA IHMDLPPERD GEKGRSTKPG FAMPKLALPK MKASKSGVSL
PQRDVDPSLS SATAGGSFQD TEKASSDGGR GGLGATASAT GSEGVNLHRP QVHIPSLGFA
KPDLRSSKAK VEVSQPEADL PLPKHDLSTE GDSRGCGLGD VPVSQPCGEG IAPTPEDPLQ
PSCRKPDAEV LTVESPEEEA MTKYSQESWF KMPKFRMPSL RRSFRDRGGA GKLEVAQTQA
PAATGGEAAA KVKEFLVSGS NVEAAMSLQL PEADAEVTAS ESKSSTDILR CDLDSTGLKL
HLSTAGMTGD ELSTSEVRIH PSKGPLPFQM PGMRLPETQV LPGEIDETPL SKPGHDLASM
EDKTEKWSSQ PEGPLKLKAS STDMPSQISV VNVDQLWEDS VLTVKFPKLM VPRFSFPAPS
SEDDVFIPTV REVQCPEANI DTALCKESPG LWGASILKAG AGVPGEQPVD LNLPLEAPPI
SKVRVHIQGA QVESQEVTIH SIVTPEFVDL SVPRTFSTQI VRESEIPTSE IQTPSYGFSL
LKVKIPEPHT QARVYTTMTQ HSRTQEGTEE APIQATPGVD SISGDLQPDT GEPFEMISSS
VNVLGQQTLT FEVPSGHQLA DSCSDEEPAE ILEFPPDDSQ EATTPLADEG RAPKDKPESK
KSGLLWFWLP NIGFSSSVDE TGVDSKNDVQ RSAPIQTQPE ARPEAELPKK QEKAGWFRFP
KLGFSSSPTK KSKSTEDGAE LEEQKLQEET ITFFDARESF SPEEKEEGEL IGPVGTGLDS
RVMVTSAART ELILPEQDRK ADDESKGSGL GPNEG*
mutated AA sequence MCDCFHMVLP TWPGTPGSVS GRQLQPGEPG AETEDDHSVT EGPADEGIRP RPQGSSPVYE
YTTEAADFGL QEDAPGRQGS AGRRRSWWKR DSGDSRTFFR MSRPEAVQEA TEVTLKTEVE
AGASGYSVTG GGDQGIFVKQ VLKDSSAAKL FNLREGDQLL STTVFFENIK YEDALKILQY
SEPYKVQFKI RRQLPAPQDE EWASSDAQHG PQGKEKEDTD VADGCRETPT KTLEGDGDQE
RLISKPRVGR GRQSQRERLS WPKFQSIKSK RGPGPQRSHS SSEAYEPRDA HDVSPTSTDT
EAQLTVERQE QKAGPGSQRR RKFLNLRFRT GSGQGPSSTG QPGRGFQSGV GRAGVLEELG
PWGDSLEETG AATGSRREER AEQDREVMPA QSMPLPTELG DPRLCEGTPQ EGGLRAARLH
GKTLEGQAQE TAVAQRKPRA QPTPGMSREG EGEGLQSLEI GIARLSLRDT TEGGTQIGPP
EIRVRVHDLK TPKFAFSTEK EPERERRLST PQRGKRQDAS SKAGTGLKGE EVEGAGWMPG
REPTTHAEAQ GDEGDGEEGL QRTRITEEQD KGREDTEGQI RMPKFKIPSL GWSPSKHTKT
GREKATEDTE QGREGEATAT ADRREQRRTE EGLKDKEDSD SMTNTTKIQL IHDEKRLKKE
QILTEKEVAT KDSKFKMPKF KMPLFGASAP GKSMEASVDV SAPKVEADVS LLSMQGDLKT
TDLSVQTPSA DLEVQDGQVD VKLPEGPLPE GASLKGHLPK VQRPSLKMPK VDLKGPKLDL
KGPKAEVTAP DVKMSLSSME VDVQAPRAKL DGARLEGDLS LADKEVTAKD SKFKMPKFKM
PSFGVSAPGK SMEDSVDVSA PKVEADVSLS SMQGDLKATD LSIQPPSADL EVQAGQVDVK
LPEGPVPEGA GPKVHLPKVE MPSFKMPKVD LKGPQIDVKG PKLDLKGPKA EVTAPDGEVS
LPSMEVDVQA QKAKLDGAWL EGDLSLADKD VTAKDSKFKM PKFKMPSFGV SAPGKSIKAL
VDVSAPKVEA DLSLPSMQGD LKTTDLSIQP ASTDLKVQAD QVDVKLPEGH LPEGAGLKGH
LPKVEMPSFK MPKVALKGPQ VDVKGPKLDL KSPKAEVTAP DVEVSLPSVE VDVEAPGAKL
DSARLEGELS LADKDVTAKD SRFKMPKFKM PSFGASAPGK SIEASVDVSA PKVEADVSLP
SMQGDLKTTD LSIQPPSADL EVHAGQVDVK LLEGHVPEGA GFKGHLPKVQ MPSLKMPKVD
LKGPQVEVRG PKLDLKGHKA EVTAHEVAVS LPSVEVDMQA PGAKLDGAQL DGDLSLADKD
VTAKDSKFKM PKFKMPSFGV SAPGKSIEAS VDLSAPKVEA DMSLPSMQGD LKTTDLSIQP
PSTDLELQAG QLDVKLPEGP VPEGAGLKGH LPKLQMPSFK VPKVDLKGPE IDIKGPKLDL
KDPKVEVTAP DVEVSLPSVE VDVEAPGAKL DGGRLEEDMS LADKDLTTKD SKFKMPKFKM
PSFGVSAPGK SIEASVDVSA PKVEADVSLP SMQGDLKATD LSIQPPSADL EVQAGQVDVK
LPEGPVSEGA GLKGHLPKVQ MPSFKMPKVD LKGPQIDVKG PKLDLKGPKV EVTAPDVKMS
LSSMEVDVQA PRAKLDGAQL EGDLSLADKA VTAKDSKFKM PKFKMPSFGV SAPGKSIEAS
VDVSEPKVEA DVSLPSMQGD LKTTDLSIQS PSADLEVQAG QVNVKLPEGP LPEGAGFKGH
LPKVQMPSLK MPKVALKGPQ MDVKGPKLDL KGPKAEVMAP DVEVSLPSVE VDVEAPGAKL
DSVRLEGDLS LADKDVTAKD SKFKMPKFKM PSFGVSAPGK SIEASVDVSA PKVEAEVSLP
SMQGDLKTTD LCIPLPSADL VVQAGQVDMK LPEGQVPEGA GLKGHLPKVD MPSFKMPKVD
LKGPQTDVKG AKLDLKGPKA EVTAPDVEVS LPSMEVDVQA QKAKLDGARL EGDLSLADKD
MTAKDSKFKM PKFKMPSFGV SAPGRSIEAS VDVPAPKVEA DVSLPSMQGD LKTTDLSIQP
PSADLKVQTG QVDVKLPEGH VPEGAGLKGH LPKVEMPSLK MPKVDLKGPQ VDIKGPKLDL
KDPKVEMRVP DVEVSLPSME VDVQAPRAKL DSAHLQGDLT LANKDLTTKD SKFKMPKFKM
PSFGVSAPGK SIEASVDVSP PKVEADMSLP SMQGDLKTTD LSIQPLSADV KVQAGQVDVK
LLEGPVPEEV GLKGHLPKLQ MPSFKVPKVD LKGPEIDIKG PKLDLKDPKV EVTAPDVEVS
LPSVEVDVKA PGAKLDGARL EGDMSLADKD VTAKDSKFKM PKFKMLSFGV SALGKSIEAS
ADVSALKVEA DVSLPSMQGD LKTTDLSVQP PSADLEVQAG QVDVKLPEGP VPEGAGLKGH
LPKLQMPSFK MPKVDLKGPQ IDVKGPKLDL KGPKTDVMAP DVEVSQPSVE VDVEAPGAKL
DGAWLEGDLS VADKDVTTKD SRFKIPKFKM PSFGVSAPGK SIEASVDVSA PKVEADGSLS
SMQGDLKATD LSIQPPSADL EVQAGQVDVK LPEGPVPEGA GLKGHLPKVQ MPSFKMPEMD
LKGPQLDVKG PKLDLKGPKA EVTAPDVEMS LSSMEVDVQA PRAKLDGARL EGDLSLADKG
VTAKDSKFKM PKFKMPSFRV SAPGESIEAL VDVSELKVEA DMSLPSMQGD LKTTDISIQP
PSAQLEVQAG QVDVKLPEGH VPEGAGLKGH LPKLQMPSFK MPEVDLKGPQ IDVKGPNVDL
KGPKAEVTAP DVKMSLSSME VDVQAPRAKL DGARLEGDLS LADKGMTAKD SKFKMPKFKM
PSFGVSAPGK SIEASVDVSE LKVEADGSFP SMQGDLKTTD IRIQPPSAQL EVQAGQVDVK
LPEGHVPEGA GLKGHLPKVQ MPSFKMPKVD LKGPQIDVKG PKLDLKGPKA EVTAPDVEVS
LPSVEVDVEA PRAKLDGARL EGDLSLADKD VTAKDSKFKM PKFKMPSFGV SAPGKSIEVS
VDVSAPKVEA EVSLPSMQGD LKTTDISIEP PSAQLEVQAG QVDLKLPEGH VPEGAGLKGH
LPKLQMPSFK MPKVDRKGPQ IDVKGPKLDL KGPKTDVTAP DVEVSQPGME VDVEAPGAKL
DGARLEGDLS LADKDVTAKD SKFKMPKFKM PSFGVSAPGK SIEVLVDVSA PKVEADLSLP
SMQGDLKNTD ISIEPPSAQL EVQAGQVDVK LPEGHVLEGA GLKGHLPKLQ MPSFKMPKVD
RKGPQIDIKG PKLDLKGPKM DVTAPDVEVS QPSMEVDVEA PGAKLDGARL EGDLSLADKD
VTAKDSKFKM PKFKMPSYRA SAPGKSIQAS VDVSAPKAEA DVSLPSMQGD LKTTDLSIQL
PSADLEVQAG QVDVKLPEGH VPEGAGLKGH LPKVEMPSFK MPKVDLKSPQ VDIKGPKLDL
KVPKAEVTVP DVEVSLPSVE VDVQAPRAKL DGARLEGDLS LAEKDVTAKD SKFKMPKFKM
PSFGVSAPGR SIEASLDVSA PKVEADVSLS SMQGDLKATD LSIQPPSADL EVQAVQVDVE
LLEGPVPEGA GLKGHLPKVE MPSLKTPKVD LKGPQIDVKG PKLDLKGPKA EVRVPDVEVS
LPSVEVDVQA PKAKLDAGRL EGDLSLADKD VTAKDSKFKM PKFKMPSFRV SAPGKSMEAS
VDVSAPKVEA DVSLPSMQGD LKTTDLSIQP PSADLKVQAG QMDVKLPEGQ VPEGAGLKEH
LPKVEMPSLK MPKVDLKGPQ VDIKGPKLDL KVSKAEVTAP DVEVSLPSVE VDVQAPRAKL
DSAQLEGDLS LADKDVTAKD SKFKMPKFKM PSFGVSAPGK SIEASVHVSA PKVEADVSLP
SMQGDLKTTD LSIQPHSADL TVQARQVDMK LLEGHVPEEA GLKGHLPKVQ MPSFKMPKVD
LKGPEIDIKG PKLDLKDPKV EVTAPDVEVS LPSVEVDVEA PGAKLDGARL EGDLSLADKD
MTAKDSKFKM PKFKMPSFGV SAPGKSMEAS VDVTAPKVEA DVSLPSMQGD LKATDLSVQP
PSADLEVQAG QVDVKLPEGP VPEGASLKGH LPKVQMPSFK MPKVDLKGPQ IDVKGPKLDL
KGPKAEVTAP DVKMSLSSME VDVQAPRAKL DGVQLEGDLS LADKDVTAKD SKFKMPKFKM
PSFGVSAPGK SMEASVDVSE LKAKADVSLP SMQGDLKTTD LSIQSPSADL EVQAGQVDVK
LPEGPLPKGA GLKGHLPKVQ MPCLKMPKVA LKGPQVDVKG PKLDLKGPKA DVMTPVVEVS
LPSMEVDVEA PGAKLDSVRL EGDLSLADKD MTAKDSKFKM PKFKMPSFGV SAPGKSIEAS
LDVSALKVEA DVSLPSMQGD LKTTHLSIQP PSADLEVQAG QEDVKLPEGP VHEGAGLKGH
LPKLQMPSFK VPKVDLKGPQ IDVNVPKLDL KGPKVEVTSP NLDVSLPSME VDIQAPGAKL
DSTRLEGDLS LADKDVTAKD SKFKMPKFKM PSFGMLSPGK SIEVSVDVSA PKMEADMSIP
SMQGDLKTTD LRIQAPSADL EVQAGQVDLK LPEGHMPEVA GLKGHLPKVE MPSFKMPKVD
LKGPQVDVKG PKLDLKGPKA EVMAPDVEVS LPSVETDVQA PGSMLDGARL EGDLSLAHED
VAGKDSKFQG PKLSTSGFEW SSKKVSMSSS EIEGNVTFHE KTSTFPIVES VVHEGDLHDP
SRDGNLGLAV GEVGMDSKFK KLHFKVPKVS FSSTKTPKDS LVPGAKSSIG LSTIPLSSSE
CSSFELQQVS ACSEPSMQMP KVGFAGFPSS RLDLTGPHFE SSILSPCEDV TLTKYQVTVP
RAALAPELAL EIPSGSQADI PLPKTECSTD LQPPEGVPTS QAESHSGPLN SMIPVSLGQV
SFPKFYKPKF VFSVPQMAVP EGDLHAAVGA PVMSPLSPGE RVQCPLPSTQ LPSPGTCVSQ
GPEELVASLQ TSVVAPGEAP SEDADHEGKG SPLKMPKIKL PSFRWSPKKE TGPKVDPECS
VEDSKLSLVL DKDEVAPQSA IHMDLPPERD GEKGRSTKPG FAMPKLALPK MKASKSGVSL
PQRDVDPSLS SATAGGSFQD TEKASSDGGR GGLGATASAT GSEGVNLHRP QVHIPSLGFA
KPDLRSSKAK VEVSQPEADL PLPKHDLSTE GDSRGCGLGD VPVSQPCGEG IAPTPEDPLQ
PSCRKPDAEV LTVESPEEEA MTKYSQESWF KMPKFRMPSL RRSFRDRGGA GKLEVAQTQA
PAATGGEAAA KVKEFLVSGS NVEAAMSLQL PEADAEVTAS ESKSSTDILR CDLDSTGLKL
HLSTAGMTGD ELSTSEVRIH PSKGPLPFQM PGMRLPETQV LPGEIDETPL SKPGHDLASM
EDKTEKWSSQ PEGPLKLKAS STDMPSQISV VNVDQLWEDS VLTVKFPKLM VPRFSFPAPS
SEDDVFIPTV REVQCPEANI DTALCKESPG LWGASILKAG AGVPGEQPVD LNLPLEAPPI
SKVRVHIQGA QVESQEVTIH SIVTPEFVDL SVPRTFSTQI VRESEIPTSE IQTPSYGFSL
LKVKIPEPHT QARVYTTMTQ HSRTQEGTEE APIQATPGVD SISGDLQPDT GEPFEMISSS
VNVLGQQTLT FEVPSGHQLA DSCSDEEPAE ILEFPPDDSQ EATTPLADEG RAPKDKPESK
KSGLLWFWLP NIGFSSSVDE TGVDSKNDVQ RSAPIQTQPE ARPEAELPKK QEKAGWFRFP
KLGFSSSPTK KSKSTEDGAE LEEQKLQEET ITFFDARESF SPEEKEEGEL IGPVGTGLDS
RVMVTSAART ELILPEQDRK ADDESKGSGL GPNEG*
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
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Yum, tasty mutations...

mutation t@sting

documentation

Prediction

polymorphism

Model: without_aae, prob: 0.999999737866074 (classification due to TGP/ExAC, real probability is shown anyway)      (explain)
Summary
  • 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) chr14:105411700A>GN/A show variant in all transcripts   IGV
HGNC symbol AHNAK2
Ensembl transcript ID ENST00000557457
Genbank transcript ID N/A
UniProt peptide Q8IVF2
alteration type single base exchange
alteration region intron
DNA changes g.32995T>C
AA changes N/A
position(s) of altered AA
if AA alteration in CDS
N/A
frameshift N/A
known variant Reference ID: rs4264326
databasehomozygous (G/G)heterozygousallele carriers
1000G81511922007
ExAC18668-456914099
regulatory features H3K27me3, Histone, Histone 3 Lysine 27 Tri-Methylation
H3K36me3, Histone, Histone 3 Lysine 36 Tri-Methylation
phyloP / phastCons
PhyloPPhastCons
(flanking)-1.9790
0.4720
(flanking)-1.0180
explain score(s) and/or inspect your position(s) in in UCSC Genome Browser
splice sites splice site change before start ATG (at aa -72) |
effectgDNA positionscoredetection sequence  exon-intron border
Acc marginally increased32995wt: 0.9595 / mu: 0.9641 (marginal change - not scored)wt: CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
mu: CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG
 ctgt|GGAC
Acc marginally increased33002wt: 0.2804 / mu: 0.2934 (marginal change - not scored)wt: CAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTGGCCAGGT
mu: CAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTGGCCAGGT
 cctg|GAGG
Acc marginally increased32997wt: 0.9446 / mu: 0.9458 (marginal change - not scored)wt: GCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTGGC
mu: GCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTGGC
 gtgg|ACCT
Acc increased32992wt: 0.30 / mu: 0.44wt: CCTCAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGG
mu: CCTCAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGG
 cttc|TGTG
Donor increased32999wt: 0.24 / mu: 0.45wt: GTGGACCTGGAGGTC
mu: GCGGACCTGGAGGTC
 GGAC|ctgg
distance from splice site 4385
Kozak consensus sequence altered? N/A
conservation
protein level for non-synonymous changes
N/A
protein features
start (aa)end (aa)featuredetails 
112193DOMAINPDZ.might get lost (downstream of altered splice site)
280280MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
294294MOD_RESPhosphoserine.might get lost (downstream of altered splice site)
25002500MOD_RESN6-acetyllysine.might get lost (downstream of altered splice site)
31953195CONFLICTP -> L (in Ref. 4; BAC23115).might get lost (downstream of altered splice site)
31983198CONFLICTA -> V (in Ref. 4; BAC23115).might get lost (downstream of altered splice site)
47404740CONFLICTE -> G (in Ref. 5; CAD98019).might get lost (downstream of altered splice site)
52695269CONFLICTL -> P (in Ref. 5; CAD98019).might get lost (downstream of altered splice site)
55605560CONFLICTD -> G (in Ref. 5; CAD97904).might get lost (downstream of altered splice site)
55775577CONFLICTI -> V (in Ref. 5; CAD97904).might get lost (downstream of altered splice site)
55905590CONFLICTT -> A (in Ref. 5; CAD97981).might get lost (downstream of altered splice site)
56015601CONFLICTD -> G (in Ref. 5; CAD98034).might get lost (downstream of altered splice site)
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 245 / 245
chromosome 14
strand -1
last intron/exon boundary 130
theoretical NMD boundary in CDS cannot be calculated, too little distance between start ATG and last intron/exon boundary
length of CDS 2382
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)
32995
chromosomal position
(for ins/del: last normal base / first normal base)
105411700
original gDNA sequence snippet CAGCATTCAGCTCCCTTCTGTGGACCTGGAGGTCCAGGCTG
altered gDNA sequence snippet CAGCATTCAGCTCCCTTCTGCGGACCTGGAGGTCCAGGCTG
original cDNA sequence snippet N/A
altered cDNA sequence snippet N/A
wildtype AA sequence MDLPPERDGE KGRSTKPGFA MPKLALPKMK ASKSGVSLPQ RDVDPSLSSA TAGGSFQDTE
KASSDGGRGG LGATASATGS EGVNLHRPQV HIPSLGFAKP DLRSSKAKVE VSQPEADLPL
PKHDLSTEGD SRGCGLGDVP VSQPCGEGIA PTPEDPLQPS CRKPDAEVLT VESPEEEAMT
KYSQESWFKM PKFRMPSLRR SFRDRGGAGK LEVAQTQAPA ATGGEAAAKV KEFLVSGSNV
EAAMSLQLPE ADAEVTASES KSSTDILRCD LDSTGLKLHL STAGMTGDEL STSEVRIHPS
KGPLPFQMPG MRLPETQVLP GEIDETPLSK PGHDLASMED KTEKWSSQPE GPLKLKASST
DMPSQISVVN VDQLWEDSVL TVKFPKLMVP RFSFPAPSSE DDVFIPTVRE VQCPEANIDT
ALCKESPGLW GASILKAGAG VPGEQPVDLN LPLEAPPISK VRVHIQGAQV ESQEVTIHSI
VTPEFVDLSV PRTFSTQIVR ESEIPTSEIQ TPSYGFSLLK VKIPEPHTQA RVYTTMTQHS
RTQEGTEEAP IQATPGVDSI SGDLQPDTGE PFEMISSSVN VLGQQTLTFE VPSGHQLADS
CSDEEPAEIL EFPPDDSQEA TTPLADEGRA PKDKPESKKS GLLWFWLPNI GFSSSVDETG
VDSKNDVQRS APIQTQPEAR PEAELPKKQE KAGWFRFPKL GFSSSPTKKS KSTEDGAELE
EQKLQEETIT FFDARESFSP EEKEEGELIG PVGTGLDSRV MVTSAARTEL ILPEQDRKAD
DESKGSGLGP NEG*
mutated AA sequence N/A
speed 1.28 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
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Problems